U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    GJD4 gap junction protein delta 4 [ Homo sapiens (human) ]

    Gene ID: 219770, updated on 27-Nov-2024

    Summary

    Official Symbol
    GJD4provided by HGNC
    Official Full Name
    gap junction protein delta 4provided by HGNC
    Primary source
    HGNC:HGNC:23296
    See related
    Ensembl:ENSG00000177291 MIM:611922; AllianceGenome:HGNC:23296
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CX40.1
    Summary
    Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GJD4 in Genome Data Viewer
    Location:
    10p11.21
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (35605341..35608935)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (35633783..35637383)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (35894269..35897863)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cyclin Y Neighboring gene uncharacterized LOC124902410 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:35736957-35737627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2307 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:35751098-35751642 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:35751643-35752185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:35752610-35753110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3265 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:35806272-35806772 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:35806773-35807273 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:35819404-35820603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3266 Neighboring gene uncharacterized LOC107984221 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:35883203-35883845 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:35889926-35890176 Neighboring gene VISTA enhancer hs1588 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:35927732-35928593 Neighboring gene Sharpr-MPRA regulatory region 6098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3269 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2308 Neighboring gene zinc finger protein 469-like Neighboring gene microRNA 4683 Neighboring gene frizzled class receptor 8

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ90023

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of satellite cell activation involved in skeletal muscle regeneration 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
     

    General protein information

    Preferred Names
    gap junction delta-4 protein
    Names
    connexin-40.1
    connexin40.1
    gap junction protein, delta 4, 40.1kDa

    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_153368.3NP_699199.2  gap junction delta-4 protein

      See identical proteins and their annotated locations for NP_699199.2

      Status: VALIDATED

      Source sequence(s)
      AJ414564, AK074504, AL121749
      Consensus CDS
      CCDS7191.1
      UniProtKB/Swiss-Prot
      Q8N2R7, Q96KN9
      UniProtKB/TrEMBL
      A0A654IBV6
      Related
      ENSP00000315070.1, ENST00000321660.2
      Conserved Domains (2) summary
      PHA03247
      Location:232361
      PHA03247; large tegument protein UL36; Provisional
      pfam00029
      Location:5218
      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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      35605341..35608935
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      35633783..35637383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)