Identity
HGNC
LOCATION
6q22.31
LOCUSID
ALIAS
AVSD3,CMDR,CX43,EKVP,EKVP3,GJAL,HLHS1,HSS,ODDD,PPKCA
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2697
MIM: 121014
HGNC: 4274
Ensembl: ENSG00000152661
Variants:
dbSNP: 2697
ClinVar: 2697
TCGA: ENSG00000152661
COSMIC: GJA1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000152661 | ENST00000282561 | P17302 |
| ENSG00000152661 | ENST00000647564 | P17302 |
| ENSG00000152661 | ENST00000649003 | P17302 |
| ENSG00000152661 | ENST00000650427 | P17302 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38145302 | 2024 | Human Cx50 Isoleucine177 prevents heterotypic docking and formation of functional gap junction channels with Cx43. | 1 |
| 38254663 | 2024 | Casein Kinase 1 Phosphomimetic Mutations Negatively Impact Connexin-43 Gap Junctions in Human Pluripotent Stem Cell-Derived Cardiomyocytes. | 0 |
| 38393658 | 2024 | Post translational modifications of connexin 43 in ventricular arrhythmias after myocardial infarction. | 0 |
| 38597989 | 2024 | The E3 ubiquitin ligase ITCH negatively regulates intercellular communication via gap junctions by targeting connexin43 for lysosomal degradation. | 0 |
| 38599061 | 2024 | NGF increases Connexin-43 expression and function in pulmonary arterial smooth muscle cells to induce pulmonary artery hyperreactivity. | 0 |
| 38622696 | 2024 | KLF5 promotes the ossification process of ligamentum flavum by transcriptionally activating CX43. | 0 |
| 38145302 | 2024 | Human Cx50 Isoleucine177 prevents heterotypic docking and formation of functional gap junction channels with Cx43. | 1 |
| 38254663 | 2024 | Casein Kinase 1 Phosphomimetic Mutations Negatively Impact Connexin-43 Gap Junctions in Human Pluripotent Stem Cell-Derived Cardiomyocytes. | 0 |
| 38393658 | 2024 | Post translational modifications of connexin 43 in ventricular arrhythmias after myocardial infarction. | 0 |
| 38597989 | 2024 | The E3 ubiquitin ligase ITCH negatively regulates intercellular communication via gap junctions by targeting connexin43 for lysosomal degradation. | 0 |
| 38599061 | 2024 | NGF increases Connexin-43 expression and function in pulmonary arterial smooth muscle cells to induce pulmonary artery hyperreactivity. | 0 |
| 38622696 | 2024 | KLF5 promotes the ossification process of ligamentum flavum by transcriptionally activating CX43. | 0 |
| 35942675 | 2023 | Identification of Cx43 variants predisposing to ventricular fibrillation in the acute phase of ST-elevation myocardial infarction. | 2 |
| 36396593 | 2023 | Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia. | 0 |
| 36674690 | 2023 | The Involvement of Cx43 in JNK1/2-Mediated Endothelial Mechanotransduction and Human Plaque Progression. | 1 |
Citation
Dessen P
GJA1 (gap junction protein alpha 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/40714/gja1
