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    GJA8 gap junction protein alpha 8 [ Homo sapiens (human) ]

    Gene ID: 2703, updated on 10-Oct-2024

    Summary

    Official Symbol
    GJA8provided by HGNC
    Official Full Name
    gap junction protein alpha 8provided by HGNC
    Primary source
    HGNC:HGNC:4281
    See related
    Ensembl:ENSG00000121634 MIM:600897; AllianceGenome:HGNC:4281
    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
    CAE; CAE1; CX50; CZP1; MP70; CTRCT1
    Summary
    This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]
    Expression
    Restricted expression toward testis (RPKM 2.4) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GJA8 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (147902795..147914486)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (146892371..146904865, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (147374921..147381396)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723321 Neighboring gene Sharpr-MPRA regulatory region 3144 Neighboring gene gap junction protein alpha 5 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:147305372-147305981 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:147305982-147306592 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:147309262-147309858 Neighboring gene PRAME family member 17 pseudogene Neighboring gene uncharacterized LOC105371229 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:147420827-147421344 Neighboring gene G protein-coupled receptor 89B Neighboring gene PDZ domain containing 1 pseudogene 1 Neighboring gene tRNA-Arg (anticodon CCT) 6-2

    Genomic regions, transcripts, and products

    Expression

    • 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

    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

    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 channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    involved_in gap junction-mediated intercellular transport 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 lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of granulocyte macrophage colony-stimulating factor production 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
     
    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-8 protein
    Names
    cell surface glycoprotein
    connexin 50
    gap junction alpha 8
    gap junction membrane channel protein alpha-8
    gap junction protein alpha 8 50kDa
    lens fiber protein MP70
    lens intrinsic membrane protein MP70

    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_016242.2 RefSeqGene

      Range
      5002..11476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005267.5NP_005258.2  gap junction alpha-8 protein

      See identical proteins and their annotated locations for NP_005258.2

      Status: REVIEWED

      Source sequence(s)
      AC239801, BQ184886, CD674975, DB476698
      Consensus CDS
      CCDS30834.1
      UniProtKB/Swiss-Prot
      A7L5M5, P48165, Q5VVN9, Q9NP25
      UniProtKB/TrEMBL
      A0A097IWA5, X5D7G1
      Related
      ENSP00000358238.1, ENST00000369235.2
      Conserved Domains (4) summary
      pfam00029
      Location:3229
      Connexin
      pfam03509
      Location:260325
      Connexin50; Gap junction alpha-8 protein (Cx50)
      pfam15623
      Location:326391
      CT47; Cancer/testis gene family 47
      pfam16791
      Location:401433
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      147902795..147914486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509417.3XP_011507719.1  gap junction alpha-8 protein isoform X1

      UniProtKB/TrEMBL
      A0A097IWA5
      Conserved Domains (5) summary
      smart00037
      Location:4476
      CNX; Connexin homologues
      smart01089
      Location:161227
      Connexin_CCC; Gap junction channel protein cysteine-rich domain
      pfam00029
      Location:3228
      Connexin; Connexin
      pfam03509
      Location:260325
      Connexin50; Gap junction alpha-8 protein (Cx50)
      cl22451
      Location:334385
      ASF1_hist_chap; ASF1 like histone chaperone

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      146892371..146904865 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336002.1XP_054191977.1  gap junction alpha-8 protein isoform X1