BEST3 - bestrophin 3 Gene

Homo sapiens

Also known as VMD2L3

Gene ID: 144453 | Gene type: protein coding

About BEST3

Cytogenetic location: 12q15 Genomic coordinates (GRCh38): 12:69,643,508-69,699,303 (from NCBI)

This gene has 12 transcripts (splice variants), 222 orthologues and 3 paralogues. Biased expression in brain (RPKM 1.2), testis (RPKM 0.5) and 4 other tissues.

Summary

BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 Other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008]

BEST3 Products(6)

mRNA	Protein	Name
NM_001282613.2	NP_001269542.1	bestrophin-3 isoform 3
NM_001282614.2	NP_001269543.1	bestrophin-3 isoform 4
NM_001282615.2	NP_001269544.1	bestrophin-3 isoform 5
NM_001282616.2	NP_001269545.1	bestrophin-3 isoform 5
NM_032735.3	NP_116124.2	bestrophin-3 isoform 1
NM_152439.4	NP_689652.2	bestrophin-3 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables intracellularly calcium-gated chloride channel activity	IDA IDA: Inferred from direct assay	12907679	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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

BEST3 Protein Structure

Bestrophin

0
200
400
600
668 a.a.

Protein Preferred Names

Protein Names

bestrophin-3

vitelliform macular dystrophy 2-like 3

Related Diseases

Diseases

Alias

Vitelliform Macular Dystrophy

Best Disease	Juvenile-Onset Vitelliform Macular Dystrophy
Macular Dystrophy, Vitelliform	Best Macular Dystrophy
Vitelliform Dystrophy

Viral Esophagitis

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-RS01476	BEST3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	BEST3	VGNC	VGNC:38436
Bos taurus	BEST3	VGNC	VGNC:26473
Rattus norvegicus	BEST3	RGD	RGD:1305439
Macaca mulatta	BEST3	VGNC	VGNC:70331
Mus musculus	BEST3	MGD	MGI:3580298

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