BEST4 - bestrophin 4 Gene

Homo sapiens

Also known as VMD2L2

Gene ID: 266675 | Gene type: protein coding

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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01477	BEST4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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