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Gene: BEST2 (bestrophin 2) Homo sapiens
Symbol: BEST2
Name: bestrophin 2
Description: This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bestrophin-2; FLJ20132; vitelliform macular dystrophy 2-like 1; vitelliform macular dystrophy 2-like protein 1; VMD2-like gene 1; VMD2L1
Mus musculus (house mouse) : Best2 (bestrophin 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Best2 (bestrophin 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Best2 (bestrophin 2)
Pan paniscus (bonobo/pygmy chimpanzee) : BEST2 (bestrophin 2)
Canis lupus familiaris (dog) : BEST2 (bestrophin 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Best2 (bestrophin 2)
Sus scrofa (pig) : BEST2 (bestrophin 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381912,751,791 - 12,758,458 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371912,862,600 - 12,869,272 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361912,724,407 - 12,730,272 (+)NCBINCBI36hg18NCBI36
Build 341912,724,471 - 12,730,269NCBI
Celera1912,753,118 - 12,758,983 (+)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,436,343 - 12,442,209 (+)NCBIHuRef
CHM1_11912,863,870 - 12,869,735 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated


Comparative Map Data
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on BEST2
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1313368
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.