• Gene id: 2701

Gene Summary

• Gene Symbol: GJA4   Gene   UCSC   Ensembl
• Aliases: CX37
• Gene name: gap junction protein alpha 4
• Alternate names: gap junction alpha-4 protein, connexin-37, gap junction protein, alpha 4, 37kDa,
• Gene location: 1p34.3 (34792957: 34795746)     Exons: 3     NC_000001.11
• Gene summary(Entrez): 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.
• OMIM: 142995

SNPs

rs397515563

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34517468G>A
NC_000009.11   g.34517466G>A
NG_008127.1   g.63656G>A|SEQ=[G/A]|GENE=DNAI1

rs397515363

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.34459055dup
NC_000009.11   g.34459053dup
NG_008127.1   g.5243dup
NG_027971.1   g.4516dup|SEQ=[T/TT]|GENE=DNAI1
FAM219A   203259

rs397515358

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.74286974T>G
NC_000017.10   g.72283113T>G
NG_016865.1   g.17728T>G|SEQ=[T/G]|GENE=DNAI2

rs376252276

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34513112G>A
NC_000009.12   g.34513112G>C
NC_000009.12   g.34513112G>T
NC_000009.11   g.34513110G>A
NC_000009.11   g.34513110G>C
NC_000009.11   g.34513110G>T
NG_008127.1   g.59300G>A
NG_008127.1   g.59300G>C
NG_008127.1   g.59300G>T
NM_012144.4   c.1490G

Protein Summary

• Protein general information: P35212  
  • Name: Gap junction alpha 4 protein (Connexin 37) (Cx37)
  • Length: 333  
  • Mass: 37414
  • Tissue specificity: Expressed in multiple organs and tissues, including heart, uterus, ovary, and blood vessel endothelium.
• Sequence:

  MGDWGFLEKLLDQVQEHSTVVGKIWLTVLFIFRILILGLAGESVWGDEQSDFECNTAQPGCTNVCYDQAFPISHI
  RYWVLQFLFVSTPTLVYLGHVIYLSRREERLRQKEGELRALPAKDPQVERALAAVERQMAKISVAEDGRLRIRGA
  LMGTYVASVLCKSVLEAGFLYGQWRLYGWTMEPVFVCQRAPCPYLVDCFVSRPTEKTIFIIFMLVVGLISLVLNL
  LELVHLLCRCLSRGMRARQGQDAPPTQGTSSDPYTDQVFFYLPVGQGPSSPPCPTYNGLSSSEQNWANLTTEERL
  ASSRPPLFLDPPPQNGQKPPSRPSSSASKKQYV

• Structural information:
  • Interpro: IPR000500  IPR002263  IPR019570  IPR017990  IPR013092   IPR038359  
  • Prosite: PS00407 PS00408
  • STRING: ENSP00000343676
• Other Databases: GeneCards:  GJA4  Malacards:  GJA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007267	cell-cell signaling	IBA	biological process
GO:0005243	gap junction channel activity	IBA	molecular function
GO:0005922	connexin complex	IBA	cellular component
GO:0007154	cell communication	IEA	biological process
GO:0005922	connexin complex	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005921	gap junction	TAS	cellular component
GO:0007043	cell-cell junction assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003158	endothelium development	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0007267	cell-cell signaling	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0005922	connexin complex	IEA	cellular component
GO:0048265	response to pain	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Coronary artery disease	PMID:15059615
Coronary artery disease	PMID:16677656
Myocardial infarction	PMID:16677656
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881