VMD2

BEST1
Identifiers
Aliases	BEST1, ARB, BEST, BMD, RP50, TU15B, VMD2, Bestrophin 1
External IDs	MGI: 1346332 HomoloGene: 37895 GeneCards: BEST1
Gene ontology Molecular function • chloride channel activity • intracellular calcium activated chloride channel activity • bicarbonate transmembrane transporter activity • identical protein binding Cellular component • integral component of membrane • cytosol • plasma membrane • basolateral plasma membrane • membrane • chloride channel complex Biological process • ion transmembrane transport • chloride transport • regulation of calcium ion transport • chloride transmembrane transport • transepithelial chloride transport • ion transport • visual perception • detection of light stimulus involved in visual perception • response to stimulus • bicarbonate transport • transport Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7439	24115
Ensembl	ENSG00000167995	ENSMUSG00000037418
UniProt	O76090	O88870
RefSeq (mRNA)	NM_001139443 NM_001300786 NM_001300787 NM_004183	NM_011913
RefSeq (protein)	NP_001132915 NP_001287715 NP_001287716 NP_004174	NP_036043
Location (UCSC)	Chr 11: 61.95 – 61.97 Mb	Chr 19: 9.99 – 10 Mb
PubMed search

7439

24115

ENSG00000167995

ENSMUSG00000037418

O76090

O88870

NM_001139443
NM_001300786
NM_001300787
NM_004183

NM_011913

NP_001132915
NP_001287715
NP_001287716
NP_004174

NP_036043

Bestrophin-1 (Best1) is a protein that, in humans, is encoded by the BEST1 gene (RPD ID - 5T5N/4RDQ).

The bestrophin family of proteins comprises four evolutionary related genes (BEST1, BEST2, BEST3, and BEST4) that code for integral membrane proteins. This family was first identified in humans by linking a BEST1 mutation with Best vitelliform macular dystrophy (BVMD). Mutations in the BEST1 gene have been identified as the primary cause for at least five different degenerative retinal diseases.

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Wikipedia