Gene Symbol Report 
GJA1
| Approved Symbol |
GJA1 |
|---|---|
| Approved Name |
gap junction protein, alpha 1, 43kDa |
| HGNC ID |
HGNC:4274 |
| Previous Symbols & Names |
"gap junction protein, alpha 1, 43kDa (connexin 43)", "gap junction protein, alpha-like", GJAL, ODDD |
| Synonyms |
"connexin 43", CX43, "oculodentodigital dysplasia (syndactyly type III)", ODD, ODOD, SDTY3 |
| Locus Type |
gene with protein product |
| Chromosomal Location |
6q22.31 |
| GENE FAMILY |
Ion channels / Gap junction proteins (connexins) |
|
|---|---|---|
| HOMOLOGS |
MGI:95713 C Mouse Symbol: Gja1 RGD:2690 D Rat Symbol: Gja1 HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:BC026329 EMBL-Bank DDBJ C RefSeq:NM_000165 C CCDS:CCDS5123.1 C Vega:OTTHUMG00000015479 C |
|
| GENE RESOURCES |
Entrez Gene:2697 C Ensembl:ENSG00000152661 C UCSC:uc003pyr.3 D Vega:OTTHUMG00000015479 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:P17302 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LSDB:Hereditary Hearing Loss Homepage C Genetic Testing Registry C |
|
| REFERENCES |
PubMed Europe PMC C |
|
| OTHER DATABASE LINKS |
BioGPS D GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
