Gene Symbol Report 
GJB2
| Approved Symbol |
GJB2 |
|---|---|
| Approved Name |
gap junction protein, beta 2, 26kDa |
| HGNC ID |
HGNC:4284 |
| Previous Symbols & Names |
DFNA3, DFNB1, "gap junction protein, beta 2, 26kD (connexin 26)", "gap junction protein, beta 2, 26kDa (connexin 26)" |
| Synonyms |
"connexin 26", CX26, NSRD1 |
| Locus Type |
gene with protein product |
| Chromosomal Location |
13q11-q12 |
| GENE FAMILY |
Ion channels / Gap junction proteins (connexins) |
|
|---|---|---|
| HOMOLOGS |
MGI:95720 C Mouse Symbol: Gjb2 RGD:728891 D Rat Symbol: Gjb2 HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:M86849 EMBL-Bank DDBJ C RefSeq:NM_004004 D CCDS:CCDS9290.1 C Vega:OTTHUMG00000016513 C |
|
| GENE RESOURCES |
Entrez Gene:2706 D Ensembl:ENSG00000165474 C UCSC:uc001umy.3 D Vega:OTTHUMG00000016513 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:P29033 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LSDB:Hereditary Hearing Loss Homepage C LSDB:The Connexin-deafness homepage C LSDB:CCHMC-BMI & UC Hearing Loss Mutation Database C Genetic Testing Registry D |
|
| REFERENCES |
PubMed Europe PMC C |
|
| OTHER DATABASE LINKS |
GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
