BEST2 bestrophin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BEST2provided by HGNC
Official Full Name: bestrophin 2provided by HGNC
Primary source: HGNC:HGNC:17107
See related: Ensembl:ENSG00000039987 MIM:607335; AllianceGenome:HGNC:17107
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: VMD2L1
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]
Expression: Restricted expression toward colon (RPKM 11.0) See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (12751791..12758458)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (12876283..12882953)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (12862605..12869272)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Low expression of bestrophin-2 is associated with poor prognosis in colon cancer.
Title: Low expression of bestrophin-2 is associated with poor prognosis in colon cancer.
BEST2 and BEST4 could be added to the lineage-specific genes of humans intestinal epithelial cells
Title: Lineage-specific expression of bestrophin-2 and bestrophin-4 in human intestinal epithelial cells.
A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon
Title: Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon.
These data suggest that Best2 may play a functional role in the regulation of aqueous flow and drainage in humans.
Title: Bestrophin 2 is expressed in human non-pigmented ciliary epithelium but not retinal pigment epithelium.
Results provide evidence that the bestrophins are expressed in pancreatic duct cells and, more specifically, that hBest1 plays a role in the calcium activated chloride channels found in these cells.
Title: Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1.
we examine data obtained from tissue-type and animal models and discuss the current state of bestrophin research, what roles Best2 may play in ocular epithelia and electrophysiology, how perturbation of these functions may result in disease. [REVIEW]
Title: Functional roles of bestrophins in ocular epithelia.
identified three novel VMD2-related human genes demonstrating a high degree of conservation in their respective RFP-TM domains [VMD2L1, VMD2L2, VMD2L3]
Title: Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:489885

NoName (e-PCR)
- UniSTS:494561

NoName (e-PCR)
- UniSTS:482536

NoName (e-PCR)
- UniSTS:480758

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables bicarbonate channel activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to chloride channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables intracellularly ligand-gated monoatomic ion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables ligand-gated monoatomic anion channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables ligand-gated monoatomic cation channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bicarbonate transport	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in membrane depolarization	ISS Inferred from Sequence or Structural Similarity more info
involved_in monoatomic cation transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of smell	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of chloride channel complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: bestrophin-2a

Names: VMD2-like gene 1; vitelliform macular dystrophy 2-like 1; vitelliform macular dystrophy 2-like protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.