Identity
HGNC
LOCATION
7q22.1
LOCUSID
ALIAS
CX29,CX30.2,CX31.3,GJE1
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: 349149
MIM: 611925
HGNC: 17495
Ensembl: ENSG00000176402
Variants:
dbSNP: 349149
ClinVar: 349149
TCGA: ENSG00000176402
COSMIC: GJC3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000176402 | ENST00000312891 | Q8NFK1 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34840390 | 2021 | Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report. | 3 |
| 34840390 | 2021 | Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report. | 3 |
| 32524838 | 2020 | GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana. | 4 |
| 32524838 | 2020 | GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana. | 4 |
| 28367085 | 2017 | Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene. | 3 |
| 28367085 | 2017 | Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene. | 3 |
| 23179405 | 2013 | Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss. | 8 |
| 23179405 | 2013 | Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss. | 8 |
| 21480002 | 2011 | Human connexin30.2/31.3 (GJC3) does not form functional gap junction channels but causes enhanced ATP release in HeLa cells. | 11 |
| 21480002 | 2011 | Human connexin30.2/31.3 (GJC3) does not form functional gap junction channels but causes enhanced ATP release in HeLa cells. | 11 |
| 19657183 | 2010 | Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method. | 8 |
| 19876648 | 2010 | A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss. | 4 |
| 20593197 | 2010 | Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation. | 11 |
| 20632892 | 2010 | Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India. | 3 |
| 20632892 | 2010 | Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India. | 3 |
Citation
Dessen P
GJC3 (gap junction protein gamma 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54333/gjc3-(gap-junction-protein-gamma-3)
