BEST3
Summary: BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| bestrophin 3 | MIM:607337 | Ensembl:ENSG00000127325 | HGNC:HGNC:17105 | PA162377503 | 12q15 |
GO terms in BEST3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | ND | GO:0008150 | biological_process |
| BP | IEA | GO:0043271 | negative regulation of ion transport |
| BP | IEA | GO:1902476 | chloride transmembrane transport |
| CC | IEA | GO:0005886 | plasma membrane |
| CC | IBA | GO:0034707 | chloride channel complex |
| CC | IEA | GO:0034707 | chloride channel complex |
| MF | ND | GO:0003674 | molecular_function |
| MF | IBA | GO:0005254 | chloride channel activity |
| MF | IEA | GO:0005254 | chloride channel activity |
Gene expression in normal tissue: BEST3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BEST3
| 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 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD399 | Selumetinib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BEST3
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