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: 57369
MIM: 607058
HGNC: 19154
Ensembl: ENSG00000159248
Variants:
dbSNP: 57369
ClinVar: 57369
TCGA: ENSG00000159248
COSMIC: GJD2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000159248 | ENST00000290374 | Q9UKL4 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38490311 | 2024 | Assembly mechanisms of the neuronal gap junction channel connexin 36 elucidated by Cryo-EM. | 0 |
| 38490311 | 2024 | Assembly mechanisms of the neuronal gap junction channel connexin 36 elucidated by Cryo-EM. | 0 |
| 36906653 | 2023 | Cryo-EM structures of human Cx36/GJD2 neuronal gap junction channel. | 7 |
| 37578890 | 2023 | Restoring connexin-36 function in diabetogenic environments precludes mouse and human islet dysfunction. | 3 |
| 36906653 | 2023 | Cryo-EM structures of human Cx36/GJD2 neuronal gap junction channel. | 7 |
| 37578890 | 2023 | Restoring connexin-36 function in diabetogenic environments precludes mouse and human islet dysfunction. | 3 |
| 35262731 | 2022 | The Role of GJD2(Cx36) in Refractive Error Development. | 3 |
| 35885949 | 2022 | Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors. | 1 |
| 35262731 | 2022 | The Role of GJD2(Cx36) in Refractive Error Development. | 3 |
| 35885949 | 2022 | Association of CX36 Protein Encoding Gene GJD2 with Refractive Errors. | 1 |
| 34406332 | 2021 | Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development. | 4 |
| 34406332 | 2021 | Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development. | 4 |
| 29246791 | 2018 | A potential role for neuronal connexin 36 in the pathogenesis of amyotrophic lateral sclerosis. | 8 |
| 29298877 | 2018 | Molecular basis for potentiation of Cx36 gap junction channel conductance by n-alcohols and general anesthetics. | 4 |
| 29793445 | 2018 | Heritability of myopia and its relation with GDJ2 and RASGRF1 genes in Lithuania. | 8 |
Citation
Dessen P
GJD2 (gap junction protein delta 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63801/gjd2-(gap-junction-protein-delta-2)
