GJA4 (gap junction protein alpha 4)

2003-11-01  

Identity

HGNC
LOCATION
1p34.3
LOCUSID
ALIAS
CX37
FUSION GENES

Other Information

Locus ID:

NCBI: 2701
MIM: 121012
HGNC: 4278
Ensembl: ENSG00000187513

Variants:

dbSNP: 2701
ClinVar: 2701
TCGA: ENSG00000187513
COSMIC: GJA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187513ENST00000342280P35212
ENSG00000187513ENST00000450137Q5JW71

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Gap junction trafficking and regulationREACTOMER-HSA-157858
Gap junction traffickingREACTOMER-HSA-190828
Gap junction assemblyREACTOMER-HSA-190861

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
124779412002Prediction of the risk of myocardial infarction from polymorphisms in candidate genes.102
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.65
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36
225285262012Gap junctions and connexin hemichannels underpin hemostasis and thrombosis.32
200811162010Gap junction protein Cx37 interacts with endothelial nitric oxide synthase in endothelial cells.29
154810662005Nitric oxide specifically reduces the permeability of Cx37-containing gap junctions to small molecules.26
204524822010Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.26
186644892008An intact connexin N-terminus is required for function but not gap junction formation.24
177859252007Common single nucleotide polymorphisms in Japanese patients with essential hypertension: aldehyde dehydrogenase 2 gene as a risk factor independent of alcohol consumption.23
155049032004Polyvalent cations constitute the voltage gating particle in human connexin37 hemichannels.22

Citation

Dessen P

GJA4 (gap junction protein alpha 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40715/gja4