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    SPTBN2 spectrin beta, non-erythrocytic 2 [ Homo sapiens (human) ]

    Gene ID: 6712, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SPTBN2provided by HGNC
    Official Full Name
    spectrin beta, non-erythrocytic 2provided by HGNC
    Primary source
    HGNC:HGNC:11276
    See related
    Ensembl:ENSG00000173898 MIM:604985; AllianceGenome:HGNC:11276
    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
    SCA5; SCAR14; GTRAP41
    Summary
    Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]
    Expression
    Biased expression in skin (RPKM 16.1), testis (RPKM 12.4) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPTBN2 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66682497..66744682, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66678745..66725466, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66449968..66496687, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66384051-66384984 Neighboring gene RBM14-RBM4 readthrough Neighboring gene hESC enhancers GRCh37_chr11:66405625-66406338 and GRCh37_chr11:66406339-66407050 Neighboring gene RNA binding motif protein 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66410755-66411278 Neighboring gene MPRA-validated peak1306 silencer Neighboring gene RNA binding motif protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66453249-66453749 Neighboring gene RNA binding motif protein 4B Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:66462288-66462788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66487347-66488304 Neighboring gene RNA, 7SL, cytoplasmic 12, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66511467-66511967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3601 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5057 Neighboring gene TOP6B like initiator of meiotic double strand breaks Neighboring gene fragile site, folic acid type, rare, fra(11)(q13.3) Neighboring gene complement C1q binding protein pseudogene 2 Neighboring gene ferritin light chain pseudogene 6

    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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    Related articles in PubMed

    1. A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study. Wang Y, et al. J Hum Genet, 2014 Oct. PMID 25142508
    2. Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration. Sancho P, et al. Int J Mol Sci, 2021 Mar 2. PMID 33801522, Free PMC Article
    3. Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5. Bian X, et al. Neurol Sci, 2021 Dec. PMID 33797620, Free PMC Article
    4. β-III-spectrin immunohistochemistry as a potential diagnostic tool with high sensitivity for malignant peripheral nerve sheath tumors. Hirbe AC, et al. Neuro Oncol, 2018 May 18. PMID 29596596, Free PMC Article
    5. A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature. Al-Muhaizea MA, et al. Cerebellum, 2018 Jun. PMID 29196973

    See all (118) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SPTBN2 suppresses ferroptosis in NSCLC cells by facilitating SLC7A11 membrane trafficking and localization.
      Title: SPTBN2 suppresses ferroptosis in NSCLC cells by facilitating SLC7A11 membrane trafficking and localization.
    2. SPTBN2 regulated by miR-214-3p inhibits the proliferation and migration of colorectal cancer cells.
      Title: SPTBN2 regulated by miR-214-3p inhibits the proliferation and migration of colorectal cancer cells.
    3. Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in beta-III-Spectrin.
      Title: Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in β-III-Spectrin.
    4. SPTBN2 Promotes the Progression of Thyroid Cancer by Accelerating G1/S Transition and Inhibiting Apoptosis.
      Title: SPTBN2 Promotes the Progression of Thyroid Cancer by Accelerating G1/S Transition and Inhibiting Apoptosis.
    5. Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5.
      Title: Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5.
    6. Expanding the beta-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.
      Title: Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.
    7. Study revealed that betaIII spectrin was weakly stained or lost in most poorly differentiated hepatocellular carcinoma (HCC) cases but retained moderate to strong stain in most cholangiocarcinoma (CC) cases. These findings suggest, for the first time, that betaIII spectrins could be helpful in differentiating poorly differentiated HCC from CC.
      Title: Utilization of spectrins βI and βIII in diagnosis of hepatocellular carcinoma.
    8. Study reviews the previously reported SPTBN2 mutations and cases. Moreover, the novel homozygous missense variant (c.1572C>T; p.R414C) in two brothers adds up to the literature for the infantile-onset form of autosomal recessive ataxia associated with SPTBN2.
      Title: A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
    9. High SPTBN2 expression is associated with malignant peripheral nerve sheath tumors.
      Title: β-III-spectrin immunohistochemistry as a potential diagnostic tool with high sensitivity for malignant peripheral nerve sheath tumors.
    10. the proposed methodology is validated against betaII-spectrin protein, a brain injury validated biomarker
      Title: Novel Bioinformatics-Based Approach for Proteomic Biomarkers Prediction of Calpain-2 &Caspase-3 Protease Fragmentation: Application to βII-Spectrin Protein.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    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
    Autosomal recessive spinocerebellar ataxia 14
    MedGen: C4706415 OMIM: 615386 GeneReviews: Not available
    		Compare labs
    Spinocerebellar ataxia type 5
    MedGen: C0752123 OMIM: 600224 GeneReviews: Hereditary Ataxia Overview
    		Compare labs

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    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)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cadherin binding HDA PubMed 
    enables phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables structural constituent of postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural constituent of synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin filament capping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in adult behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebellar Purkinje cell layer morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in postsynapse organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of postsynaptic specialization assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synapse assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vesicle-mediated transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cortical actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in parallel fiber to Purkinje cell synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in paranodal junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in postsynaptic spectrin-associated cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of spectrin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    spectrin beta chain, non-erythrocytic 2
    Names
    beta-III spectrin
    glutamate transporter EAAT4-associated protein 41
    spectrin beta III sigma 2
    spectrin beta chain, brain 2
    spectrin, non-erythroid beta chain 2
    spinocerebellar ataxia 5 protein

    NCBI Reference Sequences (RefSeq)

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    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_016150.3 RefSeqGene

      Range
      20466..67185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001411025.1 → NP_001397954.1  spectrin beta chain, non-erythrocytic 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP001157
      Consensus CDS
      CCDS91511.1
      UniProtKB/TrEMBL
      A0A087WYQ1
      Related
      ENSP00000482000.2, ENST00000617502.5

    2. NM_006946.4 → NP_008877.2  spectrin beta chain, non-erythrocytic 2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AB008567, AP001157
      Consensus CDS
      CCDS8150.1
      UniProtKB/Swiss-Prot
      O14872, O14873, O15020
      UniProtKB/TrEMBL
      A0AAQ5BGW1
      Related
      ENSP00000432568.1, ENST00000533211.6
      Conserved Domains (7) summary
      smart00150
      Location:2018 → 2075
      SPEC; Spectrin repeats
      PRK14086
      Location:2097 → 2241
      dnaA; chromosomal replication initiator protein DnaA
      cd00176
      Location:1384 → 1588
      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; ...
      cd10571
      Location:2221 → 2324
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:429 → 522
      Spectrin; Spectrin repeat
      cd21246
      Location:43 → 159
      CH_SPTB-like_rpt1; first calponin homology (CH) domain found in the beta-I spectrin-like subfamily
      cd21321
      Location:173 → 291
      CH_SPTBN2_rpt2; second calponin homology (CH) domain found in spectrin beta chain, non-erythrocytic 2 (SPTBN2) and similar proteins

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      66682497..66744682 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427495.1 → XP_047283451.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020

    2. XM_005274193.4 → XP_005274250.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      See identical proteins and their annotated locations for XP_005274250.1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020
      UniProtKB/TrEMBL
      A0AAQ5BGW1
      Related
      ENSP00000311489.2, ENST00000309996.7
      Conserved Domains (7) summary
      smart00150
      Location:2018 → 2075
      SPEC; Spectrin repeats
      PRK14086
      Location:2097 → 2241
      dnaA; chromosomal replication initiator protein DnaA
      cd00176
      Location:1384 → 1588
      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; ...
      cd10571
      Location:2221 → 2324
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:429 → 522
      Spectrin; Spectrin repeat
      cd21246
      Location:43 → 159
      CH_SPTB-like_rpt1; first calponin homology (CH) domain found in the beta-I spectrin-like subfamily
      cd21321
      Location:173 → 291
      CH_SPTBN2_rpt2; second calponin homology (CH) domain found in spectrin beta chain, non-erythrocytic 2 (SPTBN2) and similar proteins

    3. XM_017018174.2 → XP_016873663.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020
      UniProtKB/TrEMBL
      A0AAQ5BGW1
      Related
      ENSP00000508362.1, ENST00000647510.2
      Conserved Domains (7) summary
      smart00150
      Location:2018 → 2075
      SPEC; Spectrin repeats
      PRK14086
      Location:2097 → 2241
      dnaA; chromosomal replication initiator protein DnaA
      cd00176
      Location:1384 → 1588
      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; ...
      cd10571
      Location:2221 → 2324
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:429 → 522
      Spectrin; Spectrin repeat
      cd21246
      Location:43 → 159
      CH_SPTB-like_rpt1; first calponin homology (CH) domain found in the beta-I spectrin-like subfamily
      cd21321
      Location:173 → 291
      CH_SPTBN2_rpt2; second calponin homology (CH) domain found in spectrin beta chain, non-erythrocytic 2 (SPTBN2) and similar proteins

    4. XM_017018178.2 → XP_016873667.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020
      UniProtKB/TrEMBL
      A0AAQ5BGW1
      Related
      ENSP00000519041.1, ENST00000713737.1
      Conserved Domains (7) summary
      smart00150
      Location:2018 → 2075
      SPEC; Spectrin repeats
      PRK14086
      Location:2097 → 2241
      dnaA; chromosomal replication initiator protein DnaA
      cd00176
      Location:1384 → 1588
      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; ...
      cd10571
      Location:2221 → 2324
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:429 → 522
      Spectrin; Spectrin repeat
      cd21246
      Location:43 → 159
      CH_SPTB-like_rpt1; first calponin homology (CH) domain found in the beta-I spectrin-like subfamily
      cd21321
      Location:173 → 291
      CH_SPTBN2_rpt2; second calponin homology (CH) domain found in spectrin beta chain, non-erythrocytic 2 (SPTBN2) and similar proteins

    5. XM_006718671.5 → XP_006718734.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      See identical proteins and their annotated locations for XP_006718734.1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020
      UniProtKB/TrEMBL
      A0AAQ5BGW1
      Related
      ENSP00000519046.1, ENST00000713742.1
      Conserved Domains (7) summary
      smart00150
      Location:2018 → 2075
      SPEC; Spectrin repeats
      PRK14086
      Location:2097 → 2241
      dnaA; chromosomal replication initiator protein DnaA
      cd00176
      Location:1384 → 1588
      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; ...
      cd10571
      Location:2221 → 2324
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:429 → 522
      Spectrin; Spectrin repeat
      cd21246
      Location:43 → 159
      CH_SPTB-like_rpt1; first calponin homology (CH) domain found in the beta-I spectrin-like subfamily
      cd21321
      Location:173 → 291
      CH_SPTBN2_rpt2; second calponin homology (CH) domain found in spectrin beta chain, non-erythrocytic 2 (SPTBN2) and similar proteins

    6. XM_047427489.1 → XP_047283445.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020
      Related
      ENSP00000519042.1, ENST00000713738.1

    7. XM_017018176.2 → XP_016873665.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020
      UniProtKB/TrEMBL
      A0AAQ5BGW1
      Conserved Domains (7) summary
      smart00150
      Location:2018 → 2075
      SPEC; Spectrin repeats
      PRK14086
      Location:2097 → 2241
      dnaA; chromosomal replication initiator protein DnaA
      cd00176
      Location:1384 → 1588
      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; ...
      cd10571
      Location:2221 → 2324
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:429 → 522
      Spectrin; Spectrin repeat
      cd21246
      Location:43 → 159
      CH_SPTB-like_rpt1; first calponin homology (CH) domain found in the beta-I spectrin-like subfamily
      cd21321
      Location:173 → 291
      CH_SPTBN2_rpt2; second calponin homology (CH) domain found in spectrin beta chain, non-erythrocytic 2 (SPTBN2) and similar proteins

    8. XM_047427488.1 → XP_047283444.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020

    9. XM_047427494.1 → XP_047283450.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020

    10. XM_047427493.1 → XP_047283449.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020

    11. XM_017018177.3 → XP_016873666.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020
      UniProtKB/TrEMBL
      A0AAQ5BGW1
      Conserved Domains (7) summary
      smart00150
      Location:2018 → 2075
      SPEC; Spectrin repeats
      PRK14086
      Location:2097 → 2241
      dnaA; chromosomal replication initiator protein DnaA
      cd00176
      Location:1384 → 1588
      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; ...
      cd10571
      Location:2221 → 2324
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:429 → 522
      Spectrin; Spectrin repeat
      cd21246
      Location:43 → 159
      CH_SPTB-like_rpt1; first calponin homology (CH) domain found in the beta-I spectrin-like subfamily
      cd21321
      Location:173 → 291
      CH_SPTBN2_rpt2; second calponin homology (CH) domain found in spectrin beta chain, non-erythrocytic 2 (SPTBN2) and similar proteins

    12. XM_017018175.3 → XP_016873664.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020
      UniProtKB/TrEMBL
      A0AAQ5BGW1
      Conserved Domains (7) summary
      smart00150
      Location:2018 → 2075
      SPEC; Spectrin repeats
      PRK14086
      Location:2097 → 2241
      dnaA; chromosomal replication initiator protein DnaA
      cd00176
      Location:1384 → 1588
      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; ...
      cd10571
      Location:2221 → 2324
      PH_beta_spectrin; Beta-spectrin pleckstrin homology (PH) domain
      pfam00435
      Location:429 → 522
      Spectrin; Spectrin repeat
      cd21246
      Location:43 → 159
      CH_SPTB-like_rpt1; first calponin homology (CH) domain found in the beta-I spectrin-like subfamily
      cd21321
      Location:173 → 291
      CH_SPTBN2_rpt2; second calponin homology (CH) domain found in spectrin beta chain, non-erythrocytic 2 (SPTBN2) and similar proteins

    13. XM_047427491.1 → XP_047283447.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020

    14. XM_047427492.1 → XP_047283448.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020

    15. XM_047427490.1 → XP_047283446.1  spectrin beta chain, non-erythrocytic 2 isoform X1

      UniProtKB/Swiss-Prot
      O14872, O14873, O15020

    16. XM_047427496.1 → XP_047283452.1  spectrin beta chain, non-erythrocytic 2 isoform X2

      Related
      ENSP00000433593.1, ENST00000529997.5

    17. XM_011545216.4 → XP_011543518.1  spectrin beta chain, non-erythrocytic 2 isoform X3

      Conserved Domains (4) summary
      smart00033
      Location:68 → 166
      CH; Calponin homology domain
      cd00014
      Location:184 → 287
      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:541 → 753
      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; ...
      pfam00435
      Location:436 → 529
      Spectrin; Spectrin repeat

    18. XM_011545217.3 → XP_011543519.1  spectrin beta chain, non-erythrocytic 2 isoform X4

      Conserved Domains (4) summary
      smart00033
      Location:68 → 166
      CH; Calponin homology domain
      cd00014
      Location:184 → 287
      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:541 → 753
      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; ...
      pfam00435
      Location:436 → 529
      Spectrin; Spectrin repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      66678745..66725466 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369743.1 → XP_054225718.1  spectrin beta chain, non-erythrocytic 2 isoform X1

    2. XM_054369745.1 → XP_054225720.1  spectrin beta chain, non-erythrocytic 2 isoform X1

    3. XM_054369747.1 → XP_054225722.1  spectrin beta chain, non-erythrocytic 2 isoform X1

    4. XM_054369750.1 → XP_054225725.1  spectrin beta chain, non-erythrocytic 2 isoform X1

    5. XM_054369748.1 → XP_054225723.1  spectrin beta chain, non-erythrocytic 2 isoform X1

    6. XM_054369749.1 → XP_054225724.1  spectrin beta chain, non-erythrocytic 2 isoform X1

    7. XM_054369741.1 → XP_054225716.1  spectrin beta chain, non-erythrocytic 2 isoform X1

    8. XM_054369746.1 → XP_054225721.1  spectrin beta chain, non-erythrocytic 2 isoform X1

    9. XM_054369740.1 → XP_054225715.1  spectrin beta chain, non-erythrocytic 2 isoform X1

    10. XM_054369744.1 → XP_054225719.1  spectrin beta chain, non-erythrocytic 2 isoform X1

    11. XM_054369742.1 → XP_054225717.1  spectrin beta chain, non-erythrocytic 2 isoform X1

    12. XM_054369751.1 → XP_054225726.1  spectrin beta chain, non-erythrocytic 2 isoform X2

    13. XM_054369752.1 → XP_054225727.1  spectrin beta chain, non-erythrocytic 2 isoform X3

    14. XM_054369753.1 → XP_054225728.1  spectrin beta chain, non-erythrocytic 2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15020.3 GenPept UniProtKB/Swiss-Prot:O15020

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