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    Gja4 gap junction protein, alpha 4 [ Mus musculus (house mouse) ]

    Gene ID: 14612, updated on 9-Dec-2024

    Summary

    Official Symbol
    Gja4provided by MGI
    Official Full Name
    gap junction protein, alpha 4provided by MGI
    Primary source
    MGI:MGI:95715
    See related
    Ensembl:ENSMUSG00000050234 AllianceGenome:MGI:95715
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cx37; Cnx37; Cxnh1; Gja-4
    Summary
    Predicted to enable gap junction channel activity. Acts upstream of or within blood vessel development. Predicted to be located in gap junction. Predicted to be part of connexin complex. Is expressed in several structures, including central nervous system; gonad; heart; intestine; and vascular system. Human ortholog(s) of this gene implicated in coronary artery disease and myocardial infarction. Orthologous to human GJA4 (gap junction protein alpha 4). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in lung adult (RPKM 80.0), ovary adult (RPKM 28.8) and 16 other tissues See more
    Orthologs
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    Genomic context

    See Gja4 in Genome Data Viewer
    Location:
    4 D2.2; 4 61.47 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (127205213..127207832, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (127311420..127314039, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 22221 Neighboring gene crumbs homolog 1 pseudogene Neighboring gene gap junction protein, beta 3 Neighboring gene predicted gene, 40251 Neighboring gene STARR-seq mESC enhancer starr_11435 Neighboring gene gap junction protein, beta 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 
    • Targeted (1)  1 citation

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell signaling ISO
    Inferred from Sequence Orthology
    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
     
    Component Evidence Code Pubs
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of connexin complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of connexin complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in gap junction ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    gap junction alpha-4 protein
    Names
    connexin h1
    connexin-37
    gap junction membrane channel protein alpha 4

    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.

    mRNA and Protein(s)

    1. NM_008120.3NP_032146.1  gap junction alpha-4 protein

      See identical proteins and their annotated locations for NP_032146.1

      Status: VALIDATED

      Source sequence(s)
      AK143024, AL626768
      Consensus CDS
      CCDS18667.1
      UniProtKB/Swiss-Prot
      P28235
      UniProtKB/TrEMBL
      Q3UPZ2, Q6PHB9
      Related
      ENSMUSP00000062320.8, ENSMUST00000053753.8
      Conserved Domains (1) summary
      pfam00029
      Location:3220
      Connexin

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      127205213..127207832 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)