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BEST2 bestrophin 2 [ Homo sapiens (human) ]

Gene ID: 54831, updated on 13-Mar-2020

Summary

Official Symbol
BEST2provided by HGNC
Official Full Name
bestrophin 2provided by HGNC
Primary source
HGNC:HGNC:17107
See related
Ensembl:ENSG00000039987 MIM:607335
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

Genomic context

See BEST2 in Genome Data Viewer
Location:
19p13.13
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (12751791..12758458)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12862600..12869272)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene telomerase RNA component interacting RNase Neighboring gene guided entry of tail-anchored proteins factor 3, ATPase Neighboring gene hook microtubule tethering protein 2 Neighboring gene microRNA 5684

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

General gene information

Markers

Homology

Clone Names

  • FLJ20132

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to chloride channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
membrane depolarization ISS
Inferred from Sequence or Structural Similarity
more info
 
sensory perception of smell ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
chloride channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
bestrophin-2
Names
VMD2-like gene 1
vitelliform macular dystrophy 2-like 1
vitelliform macular dystrophy 2-like protein 1

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_017682.3NP_060152.2  bestrophin-2

    See identical proteins and their annotated locations for NP_060152.2

    Status: REVIEWED

    Source sequence(s)
    AC018761, AF440756, AK000139
    Consensus CDS
    CCDS42506.1
    UniProtKB/Swiss-Prot
    Q8NFU1
    Related
    ENSP00000447203.1, ENST00000553030.6
    Conserved Domains (1) summary
    pfam01062
    Location:8314
    Bestrophin; Bestrophin, RFP-TM, chloride channel

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    12751791..12758458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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