BEST2 gene

bestrophin 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Forms calcium-sensitive chloride channels. Permeable to bicarbonate.

Cytogenetic Location: 19p13.13, which is the short (p) arm of chromosome 19 at position 13.13

Molecular Location: base pairs 12,751,691 to 12,758,458 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19p13.13, which is the short (p) arm of chromosome 19 at position 13.13
  • VMD2L1