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GJA4 gap junction protein alpha 4 [ Homo sapiens (human) ]

Gene ID: 2701, updated on 3-Jun-2018
Official Symbol
GJA4provided by HGNC
Official Full Name
gap junction protein alpha 4provided by HGNC
Primary source
HGNC:HGNC:4278
See related
Ensembl:ENSG00000187513 MIM:121012; Vega:OTTHUMG00000004050
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
CX37
Summary
This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]
Expression
Broad expression in placenta (RPKM 24.9), fat (RPKM 18.0) and 17 other tissues See more
Orthologs
See GJA4 in Genome Data Viewer
Location:
1p34.3
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (34792958..34795747)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (35258559..35261351)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378642 Neighboring gene gap junction protein beta 4 Neighboring gene gap junction protein beta 3 Neighboring gene small integral membrane protein 12 Neighboring gene DLG associated protein 3

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.
NHGRI GWA Catalog
  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
  • Gap junction assembly, organism-specific biosystem (from REACTOME)
    Gap junction assembly, organism-specific biosystemThe assembly of gap junctions involves (1) synthesis of connexin polypeptides at endoplasmic reticulum membranes, (2) oligomerization into homomeric- and heteromeric gap junction connexons (hemi-chan...
  • Gap junction trafficking, organism-specific biosystem (from REACTOME)
    Gap junction trafficking, organism-specific biosystemGap junctions are intercellular communication channels formed from Cx (connexin) protein subunits (see Segretain and Falk 2004 and Evans et al. 2006 for comprehensive reviews). Connexins are transpor...
  • Gap junction trafficking and regulation, organism-specific biosystem (from REACTOME)
    Gap junction trafficking and regulation, organism-specific biosystemGap junctions are clusters of intercellular channels connecting adjacent cells and permitting the direct exchange of ions and small molecules between cells. These channels are composed of two hemicha...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
    Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood vessel development IEA
Inferred from Electronic Annotation
more info
 
calcium ion transport IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction assembly TAS
Traceable Author Statement
more info
PubMed 
cell-cell signaling IEA
Inferred from Electronic Annotation
more info
 
endothelium development IEA
Inferred from Electronic Annotation
more info
 
response to pain IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
connexin complex IEA
Inferred from Electronic Annotation
more info
 
gap junction TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
gap junction alpha-4 protein
Names
connexin-37
gap junction protein, alpha 4, 37kDa

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_002060.2NP_002051.2  gap junction alpha-4 protein

    See identical proteins and their annotated locations for NP_002051.2

    Status: REVIEWED

    Source sequence(s)
    AU103361, BC027889, BC072389
    Consensus CDS
    CCDS30669.1
    UniProtKB/Swiss-Prot
    P35212
    Related
    ENSP00000343676.4, OTTHUMP00000004181, ENST00000342280.4, OTTHUMT00000011556
    Conserved Domains (1) summary
    pfam00029
    Location:3220
    Connexin; Connexin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    34792958..34795747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270750.2XP_005270807.1  gap junction alpha-4 protein isoform X1

    See identical proteins and their annotated locations for XP_005270807.1

    UniProtKB/Swiss-Prot
    P35212
    Related
    ENSP00000409186.1, OTTHUMP00000004182, ENST00000450137.1, OTTHUMT00000011557
    Conserved Domains (1) summary
    pfam00029
    Location:3220
    Connexin; Connexin
  2. XM_017001043.2XP_016856532.1  gap junction alpha-4 protein isoform X1

    UniProtKB/Swiss-Prot
    P35212
    Conserved Domains (1) summary
    pfam00029
    Location:3220
    Connexin; Connexin
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