U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    NEB nebulin [ Homo sapiens (human) ]

    Gene ID: 4703, updated on 3-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    NEBprovided by HGNC
    Official Full Name
    nebulinprovided by HGNC
    Primary source
    HGNC:HGNC:7720
    See related
    Ensembl:ENSG00000183091 MIM:161650; AllianceGenome:HGNC:7720
    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
    AMC6; NEM2; NEB177D
    Summary
    This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
    Expression
    Biased expression in prostate (RPKM 10.5), esophagus (RPKM 3.3) and 4 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See NEB in Genome Data Viewer
    Location:
    2q23.3
    Exon count:
    183
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (151485339..151734476, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (151937128..152186240, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (152341853..152590990, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16636 Neighboring gene microRNA 4773-1 Neighboring gene microRNA 4773-2 Neighboring gene RNA, 7SL, cytoplasmic 124, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:152265327-152266025 Neighboring gene TNF alpha induced protein 6 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:152266026-152266724 Neighboring gene replication timing regulatory factor 1 Neighboring gene uncharacterized LOC124906081 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:152410007-152411206 Neighboring gene Sharpr-MPRA regulatory region 15124 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:152560612-152561164 Neighboring gene CRISPRi-validated cis-regulatory element chr2.5074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12007 Neighboring gene NEB-ARL5A intergenic CAGE-defined B cell enhancer Neighboring gene Sharpr-MPRA regulatory region 4301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16640 Neighboring gene ARF like GTPase 5A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:152731461-152732134 Neighboring gene calcium voltage-gated channel auxiliary subunit beta 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:152770214-152770417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152771361-152771862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152835433-152835977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152857391-152857891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16642 Neighboring gene NANOG hESC enhancer GRCh37_chr2:152890844-152891419 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:152906636-152907257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:152910243-152910744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12010

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. Jin HS, et al. J Hum Genet, 2014 Dec. PMID 25296583
    2. Nebulin: the nebulous, multifunctional giant of striated muscle. McElhinny AS, et al. Trends Cardiovasc Med, 2003 Jul. PMID 12837582
    3. Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Anderson SL, et al. Hum Genet, 2004 Aug. PMID 15221447
    4. Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. Feingold-Zadok M, et al. Prenat Diagn, 2017 Feb. PMID 27933661
    5. New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. Piga D, et al. J Mol Neurosci, 2016 Jul. PMID 27105866

    See all (99) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
      Title: Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
    2. Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.
      Title: Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.
    3. Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study.
      Title: Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study.
    4. Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.
      Title: Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.
    5. A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.
      Title: A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.
    6. An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.
      Title: An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.
    7. Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice.
      Title: Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice.
    8. nebulin containing exon 144 is the default isoform early in myogenesis, while regulated expression of nebulin containing exon 143 occurs at later stages of muscle development
      Title: Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation.
    9. Genes associated with Nemaline Myopathy were sequenced. Four mutations in NEB (c.17779_17780delTA, c.11086A>C, c.21076C>T and c.2310+5G>A) and one mutation in ACTA1 (c.871A>T) were found in four patients. Three of the four mutations in NEB were novel. A cDNA sequencing assay of the novel variants c.17779_17780delTA, c.11086A>C and c.2310+5G>A revealed that the intronic variant c.2310+5G>A affected the splicing process.
      Title: New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.
    10. NEB gene should be included in genetic panels for fetal akinesia/arthrogryposis multiplex congenital cases.
      Title: Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    Phenotypes

    Go to the top of the page Help

    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
    Arthrogryposis multiplex congenita 6
    MedGen: C5543431 OMIM: 619334 GeneReviews: Not available
    		Compare labs
    Nemaline myopathy 2
    MedGen: C1850569 OMIM: 256030 GeneReviews: Not available
    		Compare labs

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ11505, FLJ36536, FLJ39568, FLJ39584, DKFZp686C1456

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cardiac muscle thin filament assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in muscle organ development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of actin filament length NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in somatic muscle development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    nebulin
    Names
    nemaline myopathy type 2

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_009382.2 RefSeqGene

      Range
      5001..254149
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_202

    mRNA and Protein(s)

    1. NM_001164507.2 → NP_001157979.2  nebulin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents a transcript with all known exons of the nebulin gene except for exon 144. The RefSeq Project created this record to better support clinical studies but the combination of exons and splice sites still needs to be experimentally confirmed. The predicted protein (isoform 1) is 8525 aa long.
      Source sequence(s)
      AC009497, AC107052, AC116650
      Consensus CDS
      CCDS54408.1
      Related
      ENSP00000416578.2, ENST00000427231.7
      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8468 → 8525
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:616 → 643
      Nebulin; Nebulin repeat

    2. NM_001164508.2 → NP_001157980.2  nebulin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents a transcript with all known exons of the nebulin gene except for exon 143. The RefSeq Project created this record to better support clinical studies but the combination of exons and splice sites still needs to be experimentally confirmed. The predicted protein (isoform 2) is the same length as isoform 1 but has a different sequence due to the exchange of exon 143 for exon 144.
      Source sequence(s)
      AC009497, AC107052, AC116650
      Consensus CDS
      CCDS54407.1
      UniProtKB/Swiss-Prot
      F8WCL5, F8WCP0, P20929, Q15346, Q53QQ2, Q53TG8
      Related
      ENSP00000380505.3, ENST00000397345.8
      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8468 → 8525
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:616 → 643
      Nebulin; Nebulin repeat

    3. NM_001271208.2 → NP_001258137.2  nebulin isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents a transcript with all known exons of the nebulin gene. The RefSeq Project created this record to better support clinical studies but the combination of exons and splice sites still needs to be experimentally confirmed. The predicted protein (isoform 4) is longer than isoform 1.
      Source sequence(s)
      AC009497, AC107052, AC116650

    4. NM_004543.5 → NP_004534.3  nebulin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks many exons and uses different splice sites in its coding region, compared to variant 1. The combination of exons and splice sites has been experimentally confirmed as reported in accession X83957.1. The resulting protein (isoform 3, also known as the short form) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AC009497, AC107052
      Consensus CDS
      CCDS46424.1
      Related
      ENSP00000386259.1, ENST00000409198.5
      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:6612 → 6669
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:4407 → 4433
      Nebulin; Nebulin repeat

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      151485339..151734476 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511227.3 → XP_011509529.1  nebulin isoform X43

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:7010 → 7067
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    2. XM_011511226.3 → XP_011509528.1  nebulin isoform X41

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:7739 → 7796
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    3. XM_005246613.3 → XP_005246670.1  nebulin isoform X29

      See identical proteins and their annotated locations for XP_005246670.1

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8225 → 8282
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    4. XM_005246612.3 → XP_005246669.1  nebulin isoform X28

      See identical proteins and their annotated locations for XP_005246669.1

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8225 → 8282
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    5. XM_005246617.3 → XP_005246674.1  nebulin isoform X42

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:7496 → 7553
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    6. XM_047444485.1 → XP_047300441.1  nebulin isoform X39

    7. XM_047444484.1 → XP_047300440.1  nebulin isoform X37

    8. XM_047444477.1 → XP_047300433.1  nebulin isoform X11

    9. XM_017004177.2 → XP_016859666.1  nebulin isoform X6

    10. XM_017004185.2 → XP_016859674.1  nebulin isoform X38

      Conserved Domains (2) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8127 → 8184
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin

    11. XM_047444483.1 → XP_047300439.1  nebulin isoform X36

    12. XM_011511225.3 → XP_011509527.1  nebulin isoform X33

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8220 → 8277
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    13. XM_047444482.1 → XP_047300438.1  nebulin isoform X35

    14. XM_047444479.1 → XP_047300435.1  nebulin isoform X27

    15. XM_017004180.2 → XP_016859669.1  nebulin isoform X21

    16. XM_047444481.1 → XP_047300437.1  nebulin isoform X34

    17. XM_017004183.2 → XP_016859672.1  nebulin isoform X32

    18. XM_005246610.3 → XP_005246667.1  nebulin isoform X25

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8251 → 8308
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    19. XM_017004182.2 → XP_016859671.1  nebulin isoform X24

    20. XM_017004181.2 → XP_016859670.1  nebulin isoform X22

    21. XM_017004179.2 → XP_016859668.1  nebulin isoform X18

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8313 → 8370
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    22. XM_005246606.3 → XP_005246663.1  nebulin isoform X19

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8313 → 8370
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    23. XM_005246602.3 → XP_005246659.1  nebulin isoform X14

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8344 → 8401
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    24. XM_017004178.2 → XP_016859667.1  nebulin isoform X10

    25. XM_005246594.3 → XP_005246651.1  nebulin isoform X1

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8437 → 8494
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    26. XM_005246608.3 → XP_005246665.1  nebulin isoform X23

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8282 → 8339
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    27. XM_005246604.3 → XP_005246661.1  nebulin isoform X20

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8313 → 8370
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    28. XM_005246601.3 → XP_005246658.1  nebulin isoform X15

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8344 → 8401
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    29. XM_047444478.1 → XP_047300434.1  nebulin isoform X13

    30. XM_005246599.3 → XP_005246656.1  nebulin isoform X12

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8375 → 8432
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    31. XM_005246596.3 → XP_005246653.1  nebulin isoform X7

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8406 → 8463
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    32. XM_005246590.3 → XP_005246647.1  nebulin isoform X4

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8437 → 8494
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    33. XM_005246611.3 → XP_005246668.1  nebulin isoform X26

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8251 → 8308
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    34. XM_005246591.3 → XP_005246648.1  nebulin isoform X5

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8437 → 8494
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    35. XM_005246597.3 → XP_005246654.1  nebulin isoform X8

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8406 → 8463
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    36. XM_005246592.3 → XP_005246649.1  nebulin isoform X3

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8437 → 8494
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    37. XM_005246598.3 → XP_005246655.1  nebulin isoform X9

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8406 → 8463
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    38. XM_005246593.3 → XP_005246650.1  nebulin isoform X2

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8437 → 8494
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    39. XM_017004184.2 → XP_016859673.1  nebulin isoform X31

    40. XM_005246615.3 → XP_005246672.1  nebulin isoform X30

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8220 → 8277
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    41. XM_006712541.3 → XP_006712604.1  nebulin isoform X16

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8313 → 8370
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    42. XM_006712542.3 → XP_006712605.1  nebulin isoform X17

      Conserved Domains (3) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      cd11933
      Location:8313 → 8370
      SH3_Nebulin_C; C-terminal Src Homology 3 domain of Nebulin
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    43. XM_005246616.2 → XP_005246673.1  nebulin isoform X40

      Conserved Domains (2) summary
      smart00227
      Location:537 → 567
      NEBU; The Nebulin repeat is present also in Las1
      pfam00880
      Location:617 → 643
      Nebulin; Nebulin repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      151937128..152186240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342251.1 → XP_054198226.1  nebulin isoform X43

    2. XM_054342250.1 → XP_054198225.1  nebulin isoform X41

    3. XM_054342238.1 → XP_054198213.1  nebulin isoform X29

    4. XM_054342237.1 → XP_054198212.1  nebulin isoform X28

    5. XM_054342248.1 → XP_054198223.1  nebulin isoform X39

    6. XM_054342246.1 → XP_054198221.1  nebulin isoform X37

    7. XM_054342221.1 → XP_054198196.1  nebulin isoform X11

    8. XM_054342216.1 → XP_054198191.1  nebulin isoform X6

    9. XM_054342247.1 → XP_054198222.1  nebulin isoform X38

    10. XM_054342245.1 → XP_054198220.1  nebulin isoform X36

    11. XM_054342242.1 → XP_054198217.1  nebulin isoform X33

    12. XM_054342244.1 → XP_054198219.1  nebulin isoform X35

    13. XM_054342236.1 → XP_054198211.1  nebulin isoform X27

    14. XM_054342243.1 → XP_054198218.1  nebulin isoform X34

    15. XM_054342241.1 → XP_054198216.1  nebulin isoform X32

    16. XM_054342234.1 → XP_054198209.1  nebulin isoform X25

    17. XM_054342240.1 → XP_054198215.1  nebulin isoform X46

    18. XM_054342232.1 → XP_054198207.1  nebulin isoform X24

    19. XM_054342230.1 → XP_054198205.1  nebulin isoform X22

    20. XM_054342227.1 → XP_054198202.1  nebulin isoform X18

    21. XM_054342233.1 → XP_054198208.1  nebulin isoform X45

    22. XM_054342225.1 → XP_054198200.1  nebulin isoform X14

    23. XM_054342219.1 → XP_054198194.1  nebulin isoform X10

    24. XM_054342211.1 → XP_054198186.1  nebulin isoform X1

    25. XM_054342231.1 → XP_054198206.1  nebulin isoform X23

    26. XM_054342228.1 → XP_054198203.1  nebulin isoform X44

    27. XM_054342229.1 → XP_054198204.1  nebulin isoform X20

    28. XM_054342224.1 → XP_054198199.1  nebulin isoform X15

    29. XM_054342223.1 → XP_054198198.1  nebulin isoform X13

    30. XM_054342222.1 → XP_054198197.1  nebulin isoform X12

    31. XM_054342217.1 → XP_054198192.1  nebulin isoform X7

    32. XM_054342214.1 → XP_054198189.1  nebulin isoform X4

    33. XM_054342235.1 → XP_054198210.1  nebulin isoform X26

    34. XM_054342215.1 → XP_054198190.1  nebulin isoform X5

    35. XM_054342220.1 → XP_054198195.1  nebulin isoform X8

    36. XM_054342213.1 → XP_054198188.1  nebulin isoform X3

    37. XM_054342218.1 → XP_054198193.1  nebulin isoform X9

    38. XM_054342212.1 → XP_054198187.1  nebulin isoform X2

    39. XM_054342239.1 → XP_054198214.1  nebulin isoform X30

    40. XM_054342226.1 → XP_054198201.1  nebulin isoform X17

    41. XM_054342249.1 → XP_054198224.1  nebulin isoform X40

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P20929.6 GenPept UniProtKB/Swiss-Prot:P20929

    Gene LinkOut

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

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous