Symbol: Name: ID: |
BEST3 bestrophin 3 GFS:6199 |
Gene name: | BEST3 |
Chromosome: | 12q14.2-q15 |
Previous Symbols: | VMD2L3 |
Previous Names: | vitelliform macular dystrophy 2-like 3 |
Aliases: | MGC40411, MGC13168 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:3580298 | Rat Genome Database ID: | RGD:1305439 |
HGNC ID: | HGNC:17105 | RefSeq IDs: | NM_032735 |
Entrez Gene ID: | 144453 | Ensembl Gene ID: | ENSG00000127325 |
VEGA IDs: | OTTHUMG00000149919 | UniProt ID: | Q8N1M1 |
UCSC ID: | uc001svg.2 | OMIM ID: | 607337 |
Pubmed: | PMID12032738 | ||
CCDS IDs: | CCDSCCDS8992.2 CCDS CCDS41810.1 |
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].
Function: Forms calcium-sensitive (By similarity) chloride channels. Permeable to bicarbonate (By similarity).
Products for BEST3 gene
Catalog | Product Name | Application | Company |
GFS:E06199 | bestrophin 3; ELISA kit | ELISA | n/a |
GFS:A06199 | bestrophin 3; Anti | ANTIBODIES | n/a |
GFS:P06199 | bestrophin 3; Protien | Protien | n/a |