BEST2 - bestrophin 2 Gene

Homo sapiens

Also known as VMD2L1

Gene ID: 54831 | Gene type: protein coding

About BEST2

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,751,791-12,758,458 (from NCBI)

This gene has 4 transcripts (splice variants), 202 orthologues and 3 paralogues. Restricted expression toward colon (RPKM 11.0).

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 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008]

BEST2 Products(1)

mRNA	Protein	Name
NM_017682.3	NP_060152.2	bestrophin-2

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 ligand-gated monoatomic ion channel activity	IDA IDA: Inferred from direct assay	36289327	GOA
enables ligand-gated monoatomic cation channel activity	IMP IMP: Inferred from mutant phenotype	35789156	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

BEST2 Protein Structure

Bestrophin

0
100
200
300
400
509 a.a.

Protein Preferred Names

Protein Names

bestrophin-2

VMD2-like gene 1

BEST2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	BEST2	Q8NFU1	TMEM60	Homo sapiens	Q9H2L4	Validated Y2H	32296183
Intra	BEST2	Q8NFU1	UNC93B1	Homo sapiens	Q9H1C4	Validated Y2H	32296183
Intra	BEST2	Q8NFU1	RFT1	Homo sapiens	Q96AA3	Validated Y2H	32296183
Intra	BEST2	Q8NFU1	DNAJC30	Homo sapiens	Q96LL9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Retinitis Pigmentosa 50

RP50	Retinitis Pigmentosa, Concentric
Retinitis Pigmentosa-50	Retinitis Pigmentosa Concentric

Miliaria Profunda

Icd10cm:L74.2

Snomedct_us_2020_03_01:47317002

Viral Esophagitis

Miliaria Crystallina

Hereditary Retinal Dystrophy

Hereditary Retinal Dystrophies

Bestrophinopathy, Autosomal Recessive

Bestrophinopathy	Autosomal Recessive Bestrophinopathy
ARB	Bestrophinopathies
Retinopathy, Burgess-Black Type	Retinopathy Burgess-Black Type

Hernia, Hiatus

Hiatal Hernia	Hiatus Hernia
Diaphragmatic - Hiatus -Hernia	Hernia, Hiatal

Retinal Degeneration

Degeneration Of Retina

Anhidrosis

Hypohidrosis	Absence Of Sweating
Adiaphoresis	Impaired Sweating
Oligohidrosis

Esophagus Adenocarcinoma

Esophageal Adenocarcinoma	Oesophageal Adenocarcinoma
Adenocarcinoma Of Esophagus	Adenocarcinoma Of The Esophagus

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-RS01475	BEST2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	BEST2	VGNC	VGNC:38435
Bos taurus	BEST2	VGNC	VGNC:26472
Mus musculus	BEST2	MGD	MGI:2387588
Felis catus	BEST2	VGNC	VGNC:60103
Macaca mulatta	BEST2	VGNC	VGNC:108479
Rattus norvegicus	BEST2	RGD	RGD:1305377

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