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Gene: BEST2 (bestrophin 2) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on BEST2
Alliance Gene
NCBI 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



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