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: 2707
MIM: 603324
HGNC: 4285
Ensembl: ENSG00000188910
Variants:
dbSNP: 2707
ClinVar: 2707
TCGA: ENSG00000188910
COSMIC: GJB3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000188910 | ENST00000373362 | O75712 |
| ENSG00000188910 | ENST00000373366 | O75712 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38029595 | 2024 | Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China. | 0 |
| 38956497 | 2024 | Impairment of α-tubulin and F-actin interactions of GJB3 induces aneuploidy in urothelial cells and promotes bladder cancer cell invasion. | 0 |
| 38029595 | 2024 | Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China. | 0 |
| 38956497 | 2024 | Impairment of α-tubulin and F-actin interactions of GJB3 induces aneuploidy in urothelial cells and promotes bladder cancer cell invasion. | 0 |
| 31599015 | 2020 | Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B. | 1 |
| 32645618 | 2020 | The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. | 9 |
| 31599015 | 2020 | Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B. | 1 |
| 32645618 | 2020 | The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. | 9 |
| 29570224 | 2019 | A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death. | 8 |
| 29992552 | 2019 | Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva. | 2 |
| 31035178 | 2019 | Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China. | 11 |
| 29570224 | 2019 | A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death. | 8 |
| 29992552 | 2019 | Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva. | 2 |
| 31035178 | 2019 | Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China. | 11 |
| 29926981 | 2018 | GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary? | 5 |
Citation
Dessen P
GJB3 (gap junction protein beta 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63798/gjb3-(gap-junction-protein-beta-3)
