GJA4

Gene Information
 
Gene Symbol
GJA4
 
Aliases
CX37
 
Entrez Gene ID
 
Gene Name
Gap junction protein alpha 4
 
Chromosomal Location
1p34.3
 
HGNC ID
 
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]
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP Id
Upstream Sequence
SNP
Downstream Sequence Functional Significance References
rs1764391
C1019T
26656196

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0007043 Biological process Cell-cell junction assembly TAS 7680674
GO:0005887 Cellular component Integral component of plasma membrane TAS 7680674
GO:0005921 Cellular component Gap junction TAS 7680674
GO:0005515 Molecular function Protein binding IPI 23840749, 28298427
Protein Information
 
Protein Name
Gap junction alpha-4 protein, connexin-37, gap junction protein, alpha 4, 37kDa
 
Function
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell
 
UniProt
Pathways
 
Reactome
 

 

Gap junction assembly

Interactions
 
STRING MINT IntAct
ENSP00000274341 P10915
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Hypertensive disease
Endocrine System Diseases
PCOS
Neoplasms
Hemangioma
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS 
rs1764391 
Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group 
Related 
98 PCOS patients and 100 healthy women without PCOS of South Indian origin 
Our findings suggest that the Cx37 C1019T variation may contribute to the risk of PCOS in the South Indian women. 

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