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    GJB3 gap junction protein beta 3 [ Homo sapiens (human) ]

    Gene ID: 2707, updated on 7-Sep-2023

    Summary

    Official Symbol
    GJB3provided by HGNC
    Official Full Name
    gap junction protein beta 3provided by HGNC
    Primary source
    HGNC:HGNC:4285
    See related
    Ensembl:ENSG00000188910 MIM:603324; AllianceGenome:HGNC:4285
    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
    EKV; CX31; DFNA2; EKVP1; DFNA2B
    Summary
    This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in skin (RPKM 23.0), esophagus (RPKM 12.6) and 4 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GJB3 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (34781214..34786364)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (34643843..34648993)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (35246815..35251965)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene gap junction protein beta 5 Neighboring gene gap junction protein beta 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:35257658-35258158 Neighboring gene gap junction protein alpha 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:35307996-35308683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:35312807-35313492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:35319252-35320122 Neighboring gene small integral membrane protein 12

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22486, MGC102938

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables gap junction channel activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skin development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in gap junction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    gap junction beta-3 protein
    Names
    connexin 31
    gap junction protein, beta 3, 31kDa

    NCBI Reference Sequences (RefSeq)

    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_008309.1 RefSeqGene

      Range
      5026..10176
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001005752.2NP_001005752.1  gap junction beta-3 protein

      See identical proteins and their annotated locations for NP_001005752.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL121988, BC012918, BM763034
      Consensus CDS
      CCDS384.1
      UniProtKB/Swiss-Prot
      B2R790, O75712, Q2TAZ8
      UniProtKB/TrEMBL
      A0A654ICK0, A1YRJ5
      Related
      ENSP00000362460.3, ENST00000373362.3
      Conserved Domains (1) summary
      pfam00029
      Location:2211
      Connexin
    2. NM_024009.3NP_076872.1  gap junction beta-3 protein

      See identical proteins and their annotated locations for NP_076872.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK026139, AL547036, BE673240, BM846348
      Consensus CDS
      CCDS384.1
      UniProtKB/Swiss-Prot
      B2R790, O75712, Q2TAZ8
      UniProtKB/TrEMBL
      A0A654ICK0, A1YRJ5
      Related
      ENSP00000362464.2, ENST00000373366.3
      Conserved Domains (1) summary
      pfam00029
      Location:2211
      Connexin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      34781214..34786364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      34643843..34648993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)