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BEST4 bestrophin 4 [ Homo sapiens (human) ]

Gene ID: 266675, updated on 5-Aug-2022

Summary

Official Symbol
BEST4provided by HGNC
Official Full Name
bestrophin 4provided by HGNC
Primary source
HGNC:HGNC:17106
See related
Ensembl:ENSG00000142959 MIM:607336; AllianceGenome:HGNC:17106
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
VMD2L2
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]
Expression
Biased expression in colon (RPKM 7.6), duodenum (RPKM 2.6) and 2 other tissues See more
Orthologs
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Genomic context

See BEST4 in Genome Data Viewer
Location:
1p34.1
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (44781840..44792828, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (44654571..44659156, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45249257..45253842, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S8 Neighboring gene small nucleolar RNA, C/D box 38B Neighboring gene ribosomal protein S15a pseudogene 11 Neighboring gene polo like kinase 3 Neighboring gene dynein light chain Tctex-type 4 Neighboring gene BTB domain containing 19

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

General gene information

Markers

Homology

Clone Names

  • MGC126872

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chloride channel activity IEA
Inferred from Electronic Annotation
more info
 
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
bestrophin-4
Names
vitelliform macular dystrophy 2-like 2
vitelliform macular dystrophy 2-like protein 2

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.

mRNA and Protein(s)

  1. NM_153274.3NP_695006.1  bestrophin-4

    See identical proteins and their annotated locations for NP_695006.1

    Status: REVIEWED

    Source sequence(s)
    AF440757, AL592166, BC101823, BM142321
    Consensus CDS
    CCDS514.1
    UniProtKB/Swiss-Prot
    Q5JR93, Q8NFU0
    Related
    ENSP00000361281.3, ENST00000372207.4
    Conserved Domains (1) summary
    pfam01062
    Location:8331
    Bestrophin; RFP-TM, chloride channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    44781840..44792828 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001023.2XP_016856512.1  bestrophin-4 isoform X1

    UniProtKB/Swiss-Prot
    Q5JR93, Q8NFU0
    Conserved Domains (1) summary
    pfam01062
    Location:8331
    Bestrophin; RFP-TM, chloride channel
  2. XM_024446367.1XP_024302135.1  bestrophin-4 isoform X1

    UniProtKB/Swiss-Prot
    Q5JR93
    Conserved Domains (1) summary
    pfam01062
    Location:8331
    Bestrophin; RFP-TM, chloride channel
  3. XM_047417823.1XP_047273779.1  bestrophin-4 isoform X1

    UniProtKB/Swiss-Prot
    Q5JR93
  4. XM_047417821.1XP_047273777.1  bestrophin-4 isoform X1

    UniProtKB/Swiss-Prot
    Q5JR93
  5. XM_047417826.1XP_047273782.1  bestrophin-4 isoform X2

RNA

  1. XR_007058647.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    44654571..44659156 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)