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    SYNE2 spectrin repeat containing nuclear envelope protein 2 [ Homo sapiens (human) ]

    Gene ID: 23224, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SYNE2provided by HGNC
    Official Full Name
    spectrin repeat containing nuclear envelope protein 2provided by HGNC
    Primary source
    HGNC:HGNC:17084
    See related
    Ensembl:ENSG00000054654 MIM:608442; AllianceGenome:HGNC:17084
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NUA; EDMD5; KASH2; Nesp2; TROPH; NUANCE; SYNE-2; Nesprin-2
    Summary
    The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in skin (RPKM 13.7), kidney (RPKM 12.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SYNE2 in Genome Data Viewer
    Location:
    14q23.2
    Exon count:
    125
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (63761596..64226449)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (57969282..58434164)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (64319722..64693167)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8517 Neighboring gene RNA, U7 small nuclear 116 pseudogene Neighboring gene eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8518 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene14 Neighboring gene ribosomal protein S28 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8521 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35084 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:64357721-64358428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:64360139-64360663 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35093 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35095 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:64417577-64418140 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:64418141-64418703 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:64503774-64504468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:64526989-64527584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:64540907-64541408 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:64581878-64582065 Neighboring gene microRNA 548h-1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:64649031-64649892 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:64652879-64653670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:64663246-64663842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:64691697-64692198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:64692199-64692698 Neighboring gene uncharacterized LOC124903328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8525 Neighboring gene estrogen receptor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8526 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:64805694-64806376 Neighboring gene testis expressed 21, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mena regulates nesprin-2 to control actin-nuclear lamina associations, trans-nuclear membrane signalling and gene expression.
      Title: Mena regulates nesprin-2 to control actin-nuclear lamina associations, trans-nuclear membrane signalling and gene expression.
    2. Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders.
      Title: Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders.
    3. Silencing of Nesprin-2 inhibits the differentiation of myofibroblasts from fibroblasts induced by mechanical stretch.
      Title: Silencing of Nesprin-2 inhibits the differentiation of myofibroblasts from fibroblasts induced by mechanical stretch.
    4. Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins.
      Title: Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins.
    5. The SUN2-nesprin-2 LINC complex and KIF20A function in the Golgi dispersal.
      Title: The SUN2-nesprin-2 LINC complex and KIF20A function in the Golgi dispersal.
    6. A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy.
      Title: A novel SYNE2 mutation identified by whole exome sequencing in a Korean family with Emery-Dreifuss muscular dystrophy.
    7. Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle.
      Title: Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle.
    8. Results indicate that sperm associated antigen 4 (SPAG4L/SPAG4Lbeta) transcript isoform interacts with spectrin repeat containing nuclear envelope protein 2 (Nesprin2) in the meiotic process.
      Title: SPAG4L/SPAG4Lβ interacts with Nesprin2 to participate in the meiosis of spermatogenesis.
    9. CRISPR/Cas9-mediated knockout of Syne-2 in cell culture led to an overexpression and mislocalization of Pcnt and to ciliogenesis defects. This suggests that the Pcnt-Syne-2 complex is important for ciliogenesis and outer segment formation during retinal development and plays a role in nuclear migration.
      Title: Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis.
    10. Study shows that modulation of matrix pore size or of lamin A expression known to modulate nuclear stiffness directly impinges on levels of MT1-MMP-mediated pericellular collagenolysis by cancer cells. This response requires an intact connection between the nucleus and the centrosome via the linker of nucleoskeleton and cytoskeleton (LINC) complex protein nesprin-2 and dynein adaptor Lis1.
      Title: LINC complex-Lis1 interplay controls MT1-MMP matrix digest-on-demand response for confined tumor cell migration.
    Submit: New GeneRIF Correction See all GeneRIFs (36)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Emery-Dreifuss muscular dystrophy 5, autosomal dominant
    MedGen: C2751805 OMIM: 612999 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study of lung function decline in adults with and without asthma.
    EBI GWAS Catalog
    Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11014, FLJ43727, FLJ45710, FLJ46790, KIAA1011, DKFZp434H2235, DKFZp686H1931, DKFZp686E01115

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables cytoskeleton-nuclear membrane anchor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in centrosome localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nuclear migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nuclear migration along microfilament ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in filopodium membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lamellipodium membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of meiotic nuclear membrane microtubule tethering complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear lumen IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear outer membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    nesprin-2
    Names
    KASH domain-containing protein 2
    nesprin 2
    nesprin-2 spectrin repeats 3-54
    nuclear envelope spectrin repeat protein 2
    nucleus and actin connecting element protein
    polytrophin
    spectrin repeat containing, nuclear envelope 2
    synaptic nuclear envelope protein 2
    synaptic nuclei expressed gene 2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011756.2 RefSeqGene

      Range
      96106..469535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_872

    mRNA and Protein(s)

    1. NM_015180.6 → NP_055995.4  nesprin-2 isoform 1

      See identical proteins and their annotated locations for NP_055995.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 5. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 5.
      Source sequence(s)
      AF435011, AF495911, AI685725, AL355094, DB271849
      Consensus CDS
      CCDS41963.1
      UniProtKB/Swiss-Prot
      B4DND7, B4DPR6, I6XXQ5, Q540G1, Q86YP9, Q8N1S3, Q8NF49, Q8TER7, Q8WWW3, Q8WWW4, Q8WWW5, Q8WXH0, Q8WXH1, Q9UFQ4, Q9Y2L4, Q9Y4R1
      UniProtKB/TrEMBL
      G3V5X4
      Related
      ENSP00000341781.4, ENST00000344113.8
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2417
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6854 → 6885
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    2. NM_182910.2 → NP_878914.1  nesprin-2 isoform 2

      See identical proteins and their annotated locations for NP_878914.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 5. The resulting isoform (2) is shorter at the N-terminus compared to isoform 5.
      Source sequence(s)
      AI685725, AY184204
      UniProtKB/Swiss-Prot
      Q8WXH0
      Related
      ENST00000441438.2
      Conserved Domains (2) summary
      cd00176
      Location:84 → 307
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam10541
      Location:398 → 429
      KASH; Nuclear envelope localization domain

    3. NM_182913.4 → NP_878917.1  nesprin-2 isoform 4

      See identical proteins and their annotated locations for NP_878917.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 5. The resulting isoform (4) is shorter at the N-terminus compared to isoform 5.
      Source sequence(s)
      AI685725, AL355094, AY061758
      Consensus CDS
      CCDS45124.1
      UniProtKB/Swiss-Prot
      Q8WXH0
      Related
      ENSP00000391937.2, ENST00000458046.6
      Conserved Domains (2) summary
      cd00176
      Location:210 → 433
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam10541
      Location:525 → 556
      KASH; Nuclear envelope localization domain

    4. NM_182914.3 → NP_878918.2  nesprin-2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (5).
      Source sequence(s)
      AL162832, AL355094, AL359235
      Consensus CDS
      CCDS9761.2
      UniProtKB/TrEMBL
      G3V5X4
      Related
      ENSP00000450831.2, ENST00000555002.6
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2417
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6876 → 6907
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      63761596..64226449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431152.1 → XP_047287108.1  nesprin-2 isoform X1

    2. XM_011536576.3 → XP_011534878.1  nesprin-2 isoform X1

      See identical proteins and their annotated locations for XP_011534878.1

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2369
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6905 → 6936
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    3. XM_047431149.1 → XP_047287105.1  nesprin-2 isoform X1

    4. XM_011536574.2 → XP_011534876.1  nesprin-2 isoform X1

      See identical proteins and their annotated locations for XP_011534876.1

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2369
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6905 → 6936
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    5. XM_011536578.2 → XP_011534880.1  nesprin-2 isoform X2

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2369
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6904 → 6935
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    6. XM_011536579.2 → XP_011534881.1  nesprin-2 isoform X3

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2369
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6891 → 6922
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    7. XM_011536580.3 → XP_011534882.1  nesprin-2 isoform X6

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2369
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6890 → 6921
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    8. XM_005267454.2 → XP_005267511.1  nesprin-2 isoform X4

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2417
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6891 → 6922
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    9. XM_005267456.2 → XP_005267513.1  nesprin-2 isoform X5

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2417
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6890 → 6921
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    10. XM_005267457.2 → XP_005267514.1  nesprin-2 isoform X9

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2417
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6877 → 6908
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    11. XM_011536581.2 → XP_011534883.1  nesprin-2 isoform X7

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2369
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6882 → 6913
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    12. XM_047431153.1 → XP_047287109.1  nesprin-2 isoform X8

    13. XM_047431154.1 → XP_047287110.1  nesprin-2 isoform X11

    14. XM_047431156.1 → XP_047287112.1  nesprin-2 isoform X13

    15. XM_005267458.2 → XP_005267515.1  nesprin-2 isoform X10

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2369
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6868 → 6899
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    16. XM_047431155.1 → XP_047287111.1  nesprin-2 isoform X12

    17. XM_005267459.2 → XP_005267516.1  nesprin-2 isoform X15

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2417
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6853 → 6884
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    18. XM_011536582.2 → XP_011534884.1  nesprin-2 isoform X14

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2417
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6098 → 6311
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6866 → 6897
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5139 → 5345
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    19. XM_047431157.1 → XP_047287113.1  nesprin-2 isoform X16

    20. XM_047431158.1 → XP_047287114.1  nesprin-2 isoform X17

    21. XM_011536577.3 → XP_011534879.1  nesprin-2 isoform X1

      See identical proteins and their annotated locations for XP_011534879.1

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2369
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6905 → 6936
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    22. XM_047431159.1 → XP_047287115.1  nesprin-2 isoform X18

    23. XM_011536584.3 → XP_011534886.1  nesprin-2 isoform X19

      Conserved Domains (5) summary
      COG1196
      Location:2873 → 3746
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      TIGR02168
      Location:1898 → 2639
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      cl02488
      Location:1840 → 2031
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    24. XM_047431151.1 → XP_047287107.1  nesprin-2 isoform X1

    25. XM_047431150.1 → XP_047287106.1  nesprin-2 isoform X1

    26. XM_011536575.3 → XP_011534877.1  nesprin-2 isoform X1

      See identical proteins and their annotated locations for XP_011534877.1

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2369
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6905 → 6936
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    27. XM_017021101.2 → XP_016876590.1  nesprin-2 isoform X1

      UniProtKB/TrEMBL
      G3V5X4
      Conserved Domains (7) summary
      COG0419
      Location:3298 → 3912
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      PRK03918
      Location:1868 → 2369
      PRK03918; chromosome segregation protein; Provisional
      cd00014
      Location:33 → 135
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00176
      Location:6137 → 6350
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      pfam00307
      Location:182 → 281
      CH; Calponin homology (CH) domain
      pfam10541
      Location:6905 → 6936
      KASH; Nuclear envelope localization domain
      cl02488
      Location:5178 → 5384
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    28. XM_047431160.1 → XP_047287116.1  nesprin-2 isoform X20

      Related
      ENST00000394768.6

    29. XM_017021103.3 → XP_016876592.1  nesprin-2 isoform X21

      UniProtKB/TrEMBL
      Q6MZP0

    30. XM_017021104.3 → XP_016876593.1  nesprin-2 isoform X22

      UniProtKB/TrEMBL
      Q6MZP0

    31. XM_047431161.1 → XP_047287117.1  nesprin-2 isoform X23

      Related
      ENST00000555022.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      57969282..58434164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375667.1 → XP_054231642.1  nesprin-2 isoform X1

    2. XM_054375672.1 → XP_054231647.1  nesprin-2 isoform X1

    3. XM_054375669.1 → XP_054231644.1  nesprin-2 isoform X1

    4. XM_054375666.1 → XP_054231641.1  nesprin-2 isoform X1

    5. XM_054375674.1 → XP_054231649.1  nesprin-2 isoform X2

    6. XM_054375675.1 → XP_054231650.1  nesprin-2 isoform X3

    7. XM_054375678.1 → XP_054231653.1  nesprin-2 isoform X6

    8. XM_054375676.1 → XP_054231651.1  nesprin-2 isoform X4

    9. XM_054375677.1 → XP_054231652.1  nesprin-2 isoform X5

    10. XM_054375681.1 → XP_054231656.1  nesprin-2 isoform X9

    11. XM_054375679.1 → XP_054231654.1  nesprin-2 isoform X7

    12. XM_054375680.1 → XP_054231655.1  nesprin-2 isoform X8

    13. XM_054375683.1 → XP_054231658.1  nesprin-2 isoform X11

    14. XM_054375685.1 → XP_054231660.1  nesprin-2 isoform X13

    15. XM_054375682.1 → XP_054231657.1  nesprin-2 isoform X10

    16. XM_054375684.1 → XP_054231659.1  nesprin-2 isoform X12

    17. XM_054375687.1 → XP_054231662.1  nesprin-2 isoform X15

    18. XM_054375686.1 → XP_054231661.1  nesprin-2 isoform X14

    19. XM_054375688.1 → XP_054231663.1  nesprin-2 isoform X16

    20. XM_054375689.1 → XP_054231664.1  nesprin-2 isoform X17

    21. XM_054375690.1 → XP_054231665.1  nesprin-2 isoform X18

    22. XM_054375673.1 → XP_054231648.1  nesprin-2 isoform X1

    23. XM_054375671.1 → XP_054231646.1  nesprin-2 isoform X1

    24. XM_054375668.1 → XP_054231643.1  nesprin-2 isoform X1

    25. XM_054375670.1 → XP_054231645.1  nesprin-2 isoform X1

    26. XM_054375691.1 → XP_054231666.1  nesprin-2 isoform X24

    27. XM_054375692.1 → XP_054231667.1  nesprin-2 isoform X20

    28. XM_054375693.1 → XP_054231668.1  nesprin-2 isoform X21

    29. XM_054375694.1 → XP_054231669.1  nesprin-2 isoform X22

    30. XM_054375695.1 → XP_054231670.1  nesprin-2 isoform X23

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182912.1: Suppressed sequence

      Description
      NM_182912.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXH0.3 GenPept UniProtKB/Swiss-Prot:Q8WXH0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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