QuickView for BEST4 (gene)

Gene Symbol:

BEST4 Homo sapiens

Full name:

bestrophin 4

Synonyms:

VMD2L2, bestrophin-4, vitelliform macular dystrophy 2-like 2, vitelliform macular dystrophy 2-like protein 2

Genomic Location:

Chr 1: 45021844-45026013

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 o...

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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 4 gene is predominantly expressed in the colon.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio ,  Gallus gallus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

PBX1_02 ,  RNCTGNYNRNCTGNY_UNKNOWN ,  CAGGTA_AREB6_01 ,  T3R_Q6 ,  ER_Q6_01

Cytogenetic Map:

1p34.1

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