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    GJA3 gap junction protein alpha 3 [ Homo sapiens (human) ]

    Gene ID: 2700, updated on 9-Dec-2024

    Summary

    Official Symbol
    GJA3provided by HGNC
    Official Full Name
    gap junction protein alpha 3provided by HGNC
    Primary source
    HGNC:HGNC:4277
    See related
    Ensembl:ENSG00000121743 MIM:121015; AllianceGenome:HGNC:4277
    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
    CX46; CZP3; CTRCT14
    Summary
    The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]
    Expression
    Biased expression in heart (RPKM 3.2), placenta (RPKM 1.8) and 3 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GJA3 in Genome Data Viewer
    Location:
    13q12.11
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (20138255..20161565, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (19334689..19357997, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (20712394..20735191, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370101 Neighboring gene long intergenic non-protein coding RNA 1072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7415 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5149 Neighboring gene uncharacterized LOC124903128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:20710718-20711218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:20715699-20716200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:20725717-20726216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5152 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:20748586-20749785 Neighboring gene uncharacterized LOC107984553 Neighboring gene peptidylprolyl isomerase A pseudogene 28 Neighboring gene gap junction protein beta 2

    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

    Associated conditions

    Description Tests
    Cataract 14 multiple types
    MedGen: C1866078 OMIM: 601885 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Identification of novel germline polymorphisms governing capecitabine sensitivity.
    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 gap junction hemi-channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in gap junction-mediated intercellular transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    gap junction alpha-3 protein
    Names
    connexin-46
    gap junction alpha 3
    gap junction protein, alpha 3, 46kDa

    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_016399.1 RefSeqGene

      Range
      4993..27790
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021954.4NP_068773.2  gap junction alpha-3 protein

      See identical proteins and their annotated locations for NP_068773.2

      Status: REVIEWED

      Source sequence(s)
      AL138688, BF726530, DR003755
      Consensus CDS
      CCDS9289.1
      UniProtKB/Swiss-Prot
      Q0VAB7, Q9H537, Q9Y6H8
      Related
      ENSP00000241125.3, ENST00000241125.4
      Conserved Domains (4) summary
      smart00037
      Location:4476
      CNX; Connexin homologues
      smart01089
      Location:159225
      Connexin_CCC; Gap junction channel protein cysteine-rich domain
      pfam00029
      Location:3227
      Connexin; Connexin
      pfam16791
      Location:291435
      Connexin40_C; Connexin 40 C-terminal domain

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      20138255..20161565 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535048.3XP_011533350.1  gap junction alpha-3 protein isoform X1

      See identical proteins and their annotated locations for XP_011533350.1

      UniProtKB/Swiss-Prot
      Q0VAB7, Q9H537, Q9Y6H8
      Conserved Domains (4) summary
      smart00037
      Location:4476
      CNX; Connexin homologues
      smart01089
      Location:159225
      Connexin_CCC; Gap junction channel protein cysteine-rich domain
      pfam00029
      Location:3227
      Connexin; Connexin
      pfam16791
      Location:291435
      Connexin40_C; Connexin 40 C-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      19334689..19357997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374462.1XP_054230437.1  gap junction alpha-3 protein isoform X1

      UniProtKB/TrEMBL
      A0A654IE12