Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2701
Gene name	Gap junction protein alpha 4
Gene symbol	GJA4
Synonyms (NCBI Gene)	CX37
Chromosome	1
Chromosome location	1p34.3
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.

Show/Hide all (29)

miRTarBase ID	miRNA	Experiments
MIRT1019693	hsa-miR-1254	CLIP-seq
MIRT1019694	hsa-miR-2467-3p	CLIP-seq
MIRT1019695	hsa-miR-296-5p	CLIP-seq
MIRT1019696	hsa-miR-3116	CLIP-seq
MIRT1019697	hsa-miR-3158-5p	CLIP-seq
MIRT1019698	hsa-miR-361-3p	CLIP-seq
MIRT1019699	hsa-miR-3614-3p	CLIP-seq
MIRT1019700	hsa-miR-3678-3p	CLIP-seq
MIRT1019701	hsa-miR-371-3p	CLIP-seq
MIRT1019702	hsa-miR-371b-3p	CLIP-seq
MIRT1019703	hsa-miR-4297	CLIP-seq
MIRT1019704	hsa-miR-4456	CLIP-seq
MIRT1019705	hsa-miR-4459	CLIP-seq
MIRT1019706	hsa-miR-4712-5p	CLIP-seq
MIRT1019707	hsa-miR-4733-3p	CLIP-seq
MIRT1019708	hsa-miR-4753-5p	CLIP-seq
MIRT1019709	hsa-miR-4779	CLIP-seq
MIRT1019710	hsa-miR-486-3p	CLIP-seq
MIRT1019711	hsa-miR-515-3p	CLIP-seq
MIRT1019712	hsa-miR-519e	CLIP-seq
MIRT1019713	hsa-miR-541	CLIP-seq
MIRT1019714	hsa-miR-550a	CLIP-seq
MIRT1019715	hsa-miR-654-5p	CLIP-seq
MIRT1019716	hsa-miR-661	CLIP-seq
MIRT1019717	hsa-miR-665	CLIP-seq
MIRT1019718	hsa-miR-770-5p	CLIP-seq
MIRT2001970	hsa-miR-4514	CLIP-seq
MIRT2001971	hsa-miR-4692	CLIP-seq
MIRT2235013	hsa-miR-3922-5p	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001568	Process	Blood vessel development	IEA
GO:0005243	Function	Gap junction channel activity	IBA
GO:0005515	Function	Protein binding	IPI	23840749, 28298427, 32296183
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7680674
GO:0005921	Component	Gap junction	IEA
GO:0005921	Component	Gap junction	TAS	7680674
GO:0005922	Component	Connexin complex	IBA
GO:0005922	Component	Connexin complex	IEA
GO:0007043	Process	Cell-cell junction assembly	TAS	7680674
GO:0007154	Process	Cell communication	IEA
GO:0007267	Process	Cell-cell signaling	IBA
GO:0016020	Component	Membrane	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070161	Component	Anchoring junction	IEA

MIM	HGNC	e!Ensembl
121012	4278	ENSG00000187513

P35212

Protein name

Gap junction alpha-4 protein (Connexin-37) (Cx37)

Protein 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.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00029	Connexin	3 → 233	Connexin	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in multiple organs and tissues, including heart, uterus, ovary, and blood vessel endothelium.

Sequence

MGDWGFLEKLLDQVQEHSTVVGKIWLTVLFIFRILILGLAGESVWGDEQSDFECNTAQPG
CTNVCYDQAFPISHIRYWVLQFLFVSTPTLVYLGHVIYLSRREERLRQKEGELRALPAKD
PQVERALAAVERQMAKISVAEDGRLRIRGALMGTYVASVLCKSVLEAGFLYGQWRLYGWT
MEPVFVCQRAPCPYLVDCFVSRPTEKTIFIIFMLVVGLISLVLNLLELVHLLCRCLSRGM
RARQGQDAPPTQGTSSDPYTDQVFFYLPVGQGPSSPPCPTYNGLSSSEQNWANLTTEERL
ASSRPPLFLDPPPQNGQKPPSRPSSSASKKQYV

Sequence length

333

Interactions

View interactions

	Reactome
			Gap junction assembly

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cutaneous venous malformation	Pathogenic	rs1640240555	RCV001559133
Hepatic hemangioma	Pathogenic	rs1640240555	RCV001559134
Skin hemangioma	Pathogenic	rs1640240555	RCV001849501

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	38250763
Angiomyoma	Associate	35642047
Atherosclerosis	Associate	10447790, 21208019, 29631604, 33982579
Atrial Fibrillation	Associate	29351227
Cardiovascular Diseases	Associate	21208019
Central Nervous System Diseases	Associate	35642047
Cerebral Hemorrhage	Associate	16998253
Cerebral Infarction	Associate	16998253, 29631604, 31653176
Colorectal Neoplasms	Associate	21406965
Coronary Artery Disease	Associate	14563588
Coronary Disease	Associate	29631604
Coronary Vasospasm	Associate	16998253
Craniocerebral Trauma	Associate	22901223
Cystic Fibrosis	Associate	35748244
Diabetes Mellitus	Associate	35748244
Diabetes Mellitus Type 1	Associate	21208019
Diabetes Mellitus Type 2	Associate	21208019
End Stage Liver Disease	Associate	35748244
Erythrokeratodermia Variabilis	Associate	9347797
Helicobacter Infections	Associate	22901223
Hemangioma	Associate	35642047
Hemangioma Cavernous Central Nervous System	Associate	35902510
Hemostatic Disorders	Associate	39175027
Hereditary pancreatitis	Associate	22901223
Hypertension	Associate	10447790
Infections	Associate	22901223
Inflammation	Associate	29631604
Melanoma	Associate	35682601
Myocardial Infarction	Associate	12477941, 15234427, 16998253
Neoplasm Invasiveness	Associate	36604653
Neoplasms	Associate	36833374
Nephrosis congenital	Associate	32471989
Obesity	Associate	21208019
Plaque Atherosclerotic	Associate	10447790
Polycythemia Vera	Associate	29351227
Retinoblastoma	Associate	35682601
Squamous Cell Carcinoma of Head and Neck	Associate	36833374
Stomach Neoplasms	Associate	22901223
Stroke	Associate	29631604
Subarachnoid Hemorrhage	Associate	16998253
Venous Malformations Multiple Cutaneous and Mucosal	Associate	35642047

GJA4 (gap junction protein alpha 4)