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

Gene ID: 219770, updated on 18-Aug-2020

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
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

Genomic context

See GJD4 in Genome Data Viewer
Location:
10p11.21
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (35605341..35608935)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (35894338..35897863)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene cyclin Y Neighboring gene Sharpr-MPRA regulatory region 12265 Neighboring gene uncharacterized LOC107984221 Neighboring gene VISTA enhancer hs1588 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

Homology

Clone Names

  • FLJ90023

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of satellite cell activation involved in skeletal muscle regeneration IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
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)

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
    Q96KN9
    Related
    ENSP00000315070.1, ENST00000321660.2
    Conserved Domains (3) summary
    smart00037
    Location:4376
    CNX; Connexin homologues
    smart01089
    Location:153218
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
    pfam00029
    Location:5218
    Connexin; Connexin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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