BEST1
Summary: This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namebestrophin 1 OMIM IDMIM:607854 Ensembl IDEnsembl:ENSG00000167995 HGNC IDHGNC:HGNC:12703 PHARMGKB IDPA162377454 Map Location11q12.3 | |||||
GO terms in BEST1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005829 | cytosol |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0016020 | membrane |
| CC | TAS | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0016323 | basolateral plasma membrane |
| CC | IBA | GO:0034707 | chloride channel complex |
Gene expression in normal tissue: BEST1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BEST1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-2672351 | Stimuli-sensing channels |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-983712 | Ion channel transport |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BEST1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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