Gene Symbol Report 
GJB6
| Approved Symbol |
GJB6 |
|---|---|
| Approved Name |
gap junction protein, beta 6, 30kDa |
| HGNC ID |
HGNC:4288 |
| Previous Symbols & Names |
DFNA3, "ectodermal dysplasia 2, hidrotic (Clouston syndrome)", ED2, "gap junction protein, beta 6", "gap junction protein, beta 6 (connexin 30)" |
| Synonyms |
"connexin 30", CX30, EDH, HED |
| Locus Type |
gene with protein product |
| Chromosomal Location |
13q12 |
| GENE FAMILY |
Ion channels / Gap junction proteins (connexins) |
|
|---|---|---|
| HOMOLOGS |
MGI:107588 C Mouse Symbol: Gjb6 RGD:621830 D Rat Symbol: Gjb6 HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:AJ005585 EMBL-Bank DDBJ C RefSeq:NM_001110219 D CCDS:CCDS9291.1 C Vega:OTTHUMG00000016515 C |
|
| GENE RESOURCES |
Entrez Gene:10804 D Ensembl:ENSG00000121742 C UCSC:uc001und.4 D Vega:OTTHUMG00000016515 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:O95452 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LSDB:The Connexin-deafness homepage C LSDB:Hereditary Hearing Loss 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 |
|
