Gene Report
Basic Info
Approved Symbol |
GJA1
|
Previous Symbol |
ODDD, GJAL |
Symbol Alias |
CX43, ODD, ODOD, SDTY3 |
Approved Name |
gap junction protein, alpha 1, 43kDa |
Previous Name |
gap junction protein, alpha-like, "gap junction protein, alpha 1, 43kDa (connexin 43)" |
Name Alias |
oculodentodigital dysplasia (syndactyly type III), "connexin 43" |
Location |
6q22-q23 |
Position |
chr6:121756745-121770873, + |
External Links |
HGNC: 4274
Entrez Gene: 2697
Ensembl: ENSG00000152661
UCSC: uc003pyr.2
|
No. of Studies |
0 (significant: 0; non-significant: 0; trend: 0) |
Source |
Mapped by significant region |
Gene related studies (count: 0)
Gene related SNPs (count: 0)
Gene related CNVs (count: 0)
Gene related other variant (count: 0)
Gene related regions (count: 1)
Gene related GO terms (count: 43)
Gene related KEGG pathways (count: 2)
ID |
Name |
No. of Genes in ADHDgene |
Brief Description |
hsa04540 |
Gap junction |
27 |
Gap junctions contain intercellular channels that allow dire......
Gap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels', each containing six connexins, contributed by each neighboring cell. These channels permit the direct transfer of small molecules including ions, amino acids, nucleotides, second messengers and other metabolites between adjacent cells. Gap junctional communication is essential for many physiological events, including embryonic development, electrical coupling, metabolic transport, apoptosis, and tissue homeostasis. Communication through Gap Junction is sensitive to a variety of stimuli, including changes in the level of intracellular Ca2+, pH, transjunctional applied voltage and phosphorylation/dephosphorylation processes. This figure represents the possible activation routes of different protein kinases involved in Cx43 and Cx36 phosphorylation.
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|
hsa05412 |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) |
27 |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an......
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive myocyte loss and fibrofatty replacement, with a predilection for the right ventricle. A number of genetic studies have identified mutations in various components of the cardiac desmosome that have important roles in the pathogenesis of ARVC. Disruption of desmosomal function by defective proteins might lead to death of myocytes under mechanical stress. The myocardial injury may be accompanied by inflammation. Since regeneration of cardiac myocytes is limited, repair by fibrofatty replacement occurs. Several studies have implicated that desmosome dysfunction results in the delocalization and nuclear translocation of plakoglobin. As a result, competition between plakoglobin and beta-catenin will lead to the inhibition of Wnt/beta-catenin signaling, resulting in a shift from a myocyte fate towards an adipocyte fate of cells. The ryanodine receptor plays a crucial part in electromechanical coupling by control of release of calcium from the sarcoplasmic reticulum into the cytosol. Therefore, defects in this receptor could result in an imbalance of calcium homeostasis that might trigger cell death.
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Genes shared at least 5 GO terms with GJA1 (count: 39)
Genes shared at least 2 KEGG pathways with GJA1 (count: 0)
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