Version 5.4
| Homo sapiens Gene: BEST3 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||
| InnateDB Gene | IDBG-47253.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | BEST3 | ||||||||
| Gene Name | bestrophin 3 | ||||||||
| Synonyms | |||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Gene | ENSG00000127325 | ||||||||
| Encoded Proteins |
bestrophin 3
bestrophin 3
bestrophin 3
bestrophin 3
bestrophin 3
bestrophin 3
bestrophin 3
bestrophin 3
bestrophin 3
bestrophin 3
|
||||||||
| Protein Structure | |||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||
| Entrez Gene | |||||||||
| 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] |
||||||||
| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 12:69643360-69699476 | ||||||||
| Strand | Reverse strand | ||||||||
| Band | q15 | ||||||||
| Transcripts | |||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
||||||||
| Gene Ontology | |||||||||
Molecular Function |
|
||||||||
| Biological Process |
|
||||||||
| Cellular Component |
|
||||||||
| Orthologs | |||||||||
|
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||
| Pathways | |||||||||
| NETPATH | |||||||||
| REACTOME |
Stimuli-sensing channels pathway
Transmembrane transport of small molecules pathway
Orphan transporters pathway
Ion channel transport pathway
|
||||||||
| KEGG | |||||||||
| INOH | |||||||||
| PID NCI | |||||||||
| Cross-References | |||||||||
| SwissProt | |||||||||
| TrEMBL | E9PNM2 | ||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 144453 | ||||||||
| UniGene | Hs.280782 | ||||||||
| RefSeq | NM_001282613 NM_001282614 NM_001282615 NM_001282616 NM_032735 NM_152439 XM_005268674 XM_006719251 XM_006719253 XM_006719254 XM_006719255 | ||||||||
| HUGO | HGNC:17105 | ||||||||
| OMIM | 607337 | ||||||||
| CCDS | CCDS41810 CCDS61192 CCDS61193 CCDS73496 CCDS8992 | ||||||||
| HPRD | 17484 | ||||||||
| IMGT | |||||||||
| EMBL | AC016153 AC018921 AC025263 | ||||||||
| GenPept | |||||||||
| RNA Seq Atlas | 144453 | ||||||||