GJA4 (gap junction protein alpha 4)

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.
miRNA miRNA information provided by mirtarbase database.
29
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (29)
miRTarBase ID miRNA Experiments Reference
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
121012 4278 ENSG00000187513
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 333
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Gap junction assembly
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cutaneous venous malformation Pathogenic rs1640240555 RCV001559133
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatic hemangioma Pathogenic rs1640240555 RCV001559134
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skin hemangioma Pathogenic rs1640240555 RCV001849501
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (9)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHRONIC ISCHEMIC HEART DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEMANGIOSARCOMA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (61)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 17719307
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 15982495, 17318613, 18605953, 21044781, 21208019, 21617605, 21810657, 22305353, 22481247
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 10447790, 21208019, 29631604, 33982579 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 15982495, 17318613, 18605953, 21044781, 21208019, 21617605, 21810657, 22305353, 22481247
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 29351227
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 29351227 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 21208019
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 21208019 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Central Nervous System Diseases Central nervous system disease Pubtator 35642047 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebral Hemorrhage Cerebral hemorrhage Pubtator 16998253 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only