BEST2

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]

Description

bestrophin 2

Protein family

Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Predicted membrane proteins, Protein evidence (Peptideatlas), Transporters

Chromosome

19:p13.13 (12751702 - 12758458)

Ensembl ID

ENSG00000039987  (ver. 99.38)

Orthologs

Mouse Best2: ENSMUSG00000052819

UniProt

Q8NFU1

neXtProt

NX_Q8NFU1

Human splice variants
Mouse splice variants