Gene Symbol Report 
CACNA1F
| Approved Symbol |
CACNA1F |
|---|---|
| Approved Name |
calcium channel, voltage-dependent, L type, alpha 1F subunit |
| HGNC ID |
HGNC:1393 |
| Previous Symbols & Names |
AIED, "Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)", CSNB2 |
| Synonyms |
Cav1.4, CORDX3, CSNB2A, CSNBX2, JM8, JMC8, OA2 |
| Locus Type |
gene with protein product |
| Chromosomal Location |
Xp11.23 |
| GENE FAMILY |
Calcium channel subunits Voltage-gated ion channels / Calcium channels |
|
|---|---|---|
| SPECIALIST DATABASE |
IUPHAR: Cav1.4 D |
|
| HOMOLOGS |
MGI:1859639 C Mouse Symbol: Cacna1f RGD:621535 D Rat Symbol: Cacna1f HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:AA019975 EMBL-Bank DDBJ C RefSeq:NM_005183 C CCDS:CCDS35253.1 C Vega:OTTHUMG00000022703 C |
|
| GENE RESOURCES |
Entrez Gene:778 C Ensembl:ENSG00000102001 C UCSC:uc004dnb.3 D Vega:OTTHUMG00000022703 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:O60840 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LSDB:Mutations of the L-type Calcium-Channel Gene C LSDB:Mental Retardation database C Genetic Testing Registry C |
|
| REFERENCES |
PubMed Europe PMC C |
|
| OTHER DATABASE LINKS |
GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
