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    GJA4 gap junction protein alpha 4 [ Homo sapiens (human) ]

    Gene ID: 2701, updated on 3-Dec-2024

    Summary

    Official Symbol
    GJA4provided by HGNC
    Official Full Name
    gap junction protein alpha 4provided by HGNC
    Primary source
    HGNC:HGNC:4278
    See related
    Ensembl:ENSG00000187513 MIM:121012; AllianceGenome:HGNC:4278
    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
    CX37
    Summary
    This gene encodes 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 have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in placenta (RPKM 24.9), fat (RPKM 18.0) and 17 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GJA4 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (34792999..34795747)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (34655628..34658374)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (35258600..35261348)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene gap junction protein beta 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35252149-35252354 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35252567-35252767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:35257658-35258158 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35259863-35260017 Neighboring gene gap junction protein beta 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 716 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:35307996-35308683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:35312807-35313492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:35319252-35320122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 628 Neighboring gene small integral membrane protein 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 720 Neighboring gene DLG associated protein 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:35350327-35351322 Neighboring gene MPRA-validated peak171 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 631

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell junction assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endothelium development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to pain IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in gap junction TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    gap junction alpha-4 protein
    Names
    connexin-37
    gap junction protein, alpha 4, 37kDa

    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.

    mRNA and Protein(s)

    1. NM_002060.3NP_002051.2  gap junction alpha-4 protein

      Status: REVIEWED

      Source sequence(s)
      AU103361, BC027889, BC072389
      Consensus CDS
      CCDS30669.1
      UniProtKB/Swiss-Prot
      A8K698, D3DPR4, P35212, Q9P106, Q9UBL1, Q9UNA9, Q9UNB0, Q9UNB1, Q9Y5N7
      UniProtKB/TrEMBL
      Q5JW71
      Related
      ENSP00000343676.4, ENST00000342280.5
      Conserved Domains (1) summary
      pfam00029
      Location:3220
      Connexin; Connexin

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      34792999..34795747
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001043.3XP_016856532.1  gap junction alpha-4 protein isoform X1

      UniProtKB/Swiss-Prot
      A8K698, D3DPR4, P35212, Q9P106, Q9UBL1, Q9UNA9, Q9UNB0, Q9UNB1, Q9Y5N7
      UniProtKB/TrEMBL
      Q5JW71
      Conserved Domains (1) summary
      pfam00029
      Location:3220
      Connexin; Connexin
    2. XM_005270750.3XP_005270807.1  gap junction alpha-4 protein isoform X1

      UniProtKB/Swiss-Prot
      A8K698, D3DPR4, P35212, Q9P106, Q9UBL1, Q9UNA9, Q9UNB0, Q9UNB1, Q9Y5N7
      UniProtKB/TrEMBL
      Q5JW71
      Related
      ENSP00000409186.1, ENST00000450137.1
      Conserved Domains (1) summary
      pfam00029
      Location:3220
      Connexin; Connexin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      34655628..34658374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336000.1XP_054191975.1  gap junction alpha-4 protein isoform X1

      UniProtKB/Swiss-Prot
      A8K698, D3DPR4, P35212, Q9P106, Q9UBL1, Q9UNA9, Q9UNB0, Q9UNB1, Q9Y5N7
      UniProtKB/TrEMBL
      Q5JW71
    2. XM_054336001.1XP_054191976.1  gap junction alpha-4 protein isoform X1

      UniProtKB/Swiss-Prot
      A8K698, D3DPR4, P35212, Q9P106, Q9UBL1, Q9UNA9, Q9UNB0, Q9UNB1, Q9Y5N7
      UniProtKB/TrEMBL
      Q5JW71