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: 2701
MIM: 121012
HGNC: 4278
Ensembl: ENSG00000187513
Variants:
dbSNP: 2701
ClinVar: 2701
TCGA: ENSG00000187513
COSMIC: GJA4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000187513 | ENST00000342280 | P35212 |
| ENSG00000187513 | ENST00000450137 | Q5JW71 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35902510 | 2023 | Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations. | 5 |
| 37072338 | 2023 | Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas. | 1 |
| 37197981 | 2023 | Connexin 37 sequestering of activated-ERK in the cytoplasm promotes p27-mediated endothelial cell cycle arrest. | 2 |
| 35902510 | 2023 | Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations. | 5 |
| 37072338 | 2023 | Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas. | 1 |
| 37197981 | 2023 | Connexin 37 sequestering of activated-ERK in the cytoplasm promotes p27-mediated endothelial cell cycle arrest. | 2 |
| 35642047 | 2022 | The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile. | 3 |
| 35748244 | 2022 | Mannose-Binding Lectin (MBL) and Gap Junction Protein Alpha 4 (GJA4) Gene Heterogeneity in Relation to Severity of Clinical Disease in Cystic Fibrosis. | 0 |
| 36209871 | 2022 | A clinicopathological reappraisal of orbital vascular malformations and distinctive GJA4 mutation in cavernous venous malformations. | 2 |
| 35642047 | 2022 | The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile. | 3 |
| 35748244 | 2022 | Mannose-Binding Lectin (MBL) and Gap Junction Protein Alpha 4 (GJA4) Gene Heterogeneity in Relation to Severity of Clinical Disease in Cystic Fibrosis. | 0 |
| 36209871 | 2022 | A clinicopathological reappraisal of orbital vascular malformations and distinctive GJA4 mutation in cavernous venous malformations. | 2 |
| 33982579 | 2021 | The role of connexin 37 polymorphism in spontaneous abortion. | 0 |
| 33982579 | 2021 | The role of connexin 37 polymorphism in spontaneous abortion. | 0 |
| 31580250 | 2020 | Relationship between SNP rs1764391 and Susceptibility, Risk Factors, Gene-environment Interactions of Acute Myocardial Infarction in Guangxi Han Chinese Population. | 1 |
Citation
Dessen P
GJA4 (gap junction protein alpha 4)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/40715
