Identity
HGNC
LOCATION
13q12.11
LOCUSID
ALIAS
CX30,DFNA3,DFNA3B,DFNB1B,ECTD2,ED2,EDH,HED,HED2
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: 10804
MIM: 604418
HGNC: 4288
Ensembl: ENSG00000121742
Variants:
dbSNP: 10804
ClinVar: 10804
TCGA: ENSG00000121742
COSMIC: GJB6
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34199748 | 2021 | Dysregulation of Connexin Expression Plays a Pivotal Role in Psoriasis. | 5 |
| 34199748 | 2021 | Dysregulation of Connexin Expression Plays a Pivotal Role in Psoriasis. | 5 |
| 31215297 | 2020 | Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews. | 6 |
| 32843087 | 2020 | A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia. | 2 |
| 33096615 | 2020 | GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort. | 9 |
| 31215297 | 2020 | Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews. | 6 |
| 32843087 | 2020 | A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia. | 2 |
| 33096615 | 2020 | GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort. | 9 |
| 31162818 | 2019 | Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran. | 7 |
| 31200317 | 2019 | The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions. | 1 |
| 31374562 | 2019 | Evidence of decreased gap junction coupling between astrocytes and oligodendrocytes in the anterior cingulate cortex of depressed suicides. | 19 |
| 31162818 | 2019 | Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran. | 7 |
| 31200317 | 2019 | The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions. | 1 |
| 31374562 | 2019 | Evidence of decreased gap junction coupling between astrocytes and oligodendrocytes in the anterior cingulate cortex of depressed suicides. | 19 |
| 30043857 | 2018 | Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis. | 6 |
Citation
Dessen P
GJB6 (gap junction protein beta 6)
Atlas Genet Cytogenet Oncol Haematol. 2007-09-01
Online version: http://atlasgeneticsoncology.org/gene/49731/gjb6
