Identity
HGNC
LOCATION
13q12.11
LOCUSID
ALIAS
BAPS,CX26,DFNA3,DFNA3A,DFNB1,DFNB1A,HID,KID,NSRD1,PPK
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: 2706
MIM: 121011
HGNC: 4284
Ensembl: ENSG00000165474
Variants:
dbSNP: 2706
ClinVar: 2706
TCGA: ENSG00000165474
COSMIC: GJB2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165474 | ENST00000382844 | P29033 |
| ENSG00000165474 | ENST00000382844 | H9U1J4 |
| ENSG00000165474 | ENST00000382848 | P29033 |
| ENSG00000165474 | ENST00000382848 | H9U1J4 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
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 |
| 38212800 | 2024 | Interactions of genetic variations in FAS, GJB2 and PTPRN2 are associated with noise-induced hearing loss: a case-control study in China. | 0 |
| 38253033 | 2024 | Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population. | 0 |
| 38475771 | 2024 | Reconstructing the ancestral gene pool to uncover the origins and genetic links of Hmong-Mien speakers. | 0 |
| 38720048 | 2024 | Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants. | 0 |
| 38730444 | 2024 | Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss. | 0 |
| 38829031 | 2024 | Structures of wild-type and a constitutively closed mutant of connexin26 shed light on channel regulation by CO(2). | 0 |
| 38029595 | 2024 | Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China. | 0 |
| 38212800 | 2024 | Interactions of genetic variations in FAS, GJB2 and PTPRN2 are associated with noise-induced hearing loss: a case-control study in China. | 0 |
| 38253033 | 2024 | Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population. | 0 |
| 38475771 | 2024 | Reconstructing the ancestral gene pool to uncover the origins and genetic links of Hmong-Mien speakers. | 0 |
| 38720048 | 2024 | Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants. | 0 |
| 38730444 | 2024 | Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss. | 0 |
| 38829031 | 2024 | Structures of wild-type and a constitutively closed mutant of connexin26 shed light on channel regulation by CO(2). | 0 |
| 36048236 | 2023 | Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss. | 4 |
Citation
Dessen P
GJB2 (gap junction protein beta 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/40716/gjb2
