BEST4 - bestrophin 4 Gene

Also Known as VMD2L2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 266675

About BEST4

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:44,781,840-44,792,828 (from NCBI)

This gene has 1 transcript (splice variant), 203 orthologues and 3 paralogues. Biased expression in colon (RPKM 7.6), duodenum (RPKM 2.6) and 2 other tissues.

Summary

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. [provided by RefSeq, Jul 2008]

BEST4 Products (1)

mRNA Protein Name
NM_153274.3 NP_695006.1 bestrophin-4

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables bicarbonate channel activity IDA
IDA: Inferred from direct assay
18400985 GOA
enables chloride channel activity IDA
IDA: Inferred from direct assay
18400985 GOA
enables intracellularly calcium-gated chloride channel activity IDA
IDA: Inferred from direct assay
12907679 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BEST4 Protein Structure

Bestrophin

Bestrophin: Bestrophin, RFP-TM, chloride channel (1 - 332)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 473 a.a.
Protein Preferred Names Protein Names

bestrophin-4

  • vitelliform macular dystrophy 2-like 2

Related Diseases

Diseases Alias
Vitelliform Macular Dystrophy

  • Best Disease

  • Juvenile-Onset Vitelliform Macular Dystrophy

  • Macular Dystrophy, Vitelliform

  • Best Macular Dystrophy

  • Vitelliform Dystrophy
Vitreoretinochoroidopathy

  • Autosomal Dominant Vitreoretinochoroidopathy

  • Advirc

  • Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract

  • Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos

  • Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2

  • Vitreoretinochoroidopathy Dominant

  • VRCP

  • Vitreoretinochoroidopathy, Autosomal Dominant

  • Vrcp Autosomal Dominant

  • Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma

  • Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract
Bestrophinopathy, Autosomal Recessive

  • Bestrophinopathy

  • Autosomal Recessive Bestrophinopathy

  • ARB

  • Bestrophinopathies

  • Retinopathy, Burgess-Black Type

  • Retinopathy Burgess-Black Type
Hereditary Retinal Dystrophy

  • Hereditary Retinal Dystrophies
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01477 BEST4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus BEST4 RGD RGD:1596200
Felis catus BEST4 VGNC VGNC:60104
Macaca mulatta BEST4 VGNC VGNC:106324
Bos taurus BEST4 VGNC VGNC:26474
Canis familiaris BEST4 VGNC VGNC:38437
Others BEST4 NCBI