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Aliases for BEST1 Gene

Aliases for BEST1 Gene

  • Bestrophin 1 2 3 5
  • Vitelliform Macular Dystrophy Protein 2 3 4
  • Best Disease 2 3
  • TU15B 3 4
  • VMD2 3 4
  • Vitelliform Macular Dystrophy 2 2
  • Best1V1Delta2 3
  • BEST 3
  • RP50 3
  • ARB 3
  • BMD 3

External Ids for BEST1 Gene

Previous HGNC Symbols for BEST1 Gene

  • VMD2

Previous GeneCards Identifiers for BEST1 Gene

  • GC11P061475
  • GC11P061717
  • GC11P058045

Summaries for BEST1 Gene

Entrez Gene Summary for BEST1 Gene

  • This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]

GeneCards Summary for BEST1 Gene

BEST1 (Bestrophin 1) is a Protein Coding gene. Diseases associated with BEST1 include retinitis pigmentosa-50 and vitreoretinochoroidopathy. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include chloride channel activity. An important paralog of this gene is BEST2.

UniProtKB/Swiss-Prot for BEST1 Gene

  • Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.

Gene Wiki entry for BEST1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BEST1 Gene

Genomics for BEST1 Gene

Regulatory Elements for BEST1 Gene

Genomic Location for BEST1 Gene

Chromosome:
11
Start:
61,946,715 bp from pter
End:
61,965,515 bp from pter
Size:
18,801 bases
Orientation:
Plus strand

Genomic View for BEST1 Gene

Genes around BEST1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BEST1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BEST1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BEST1 Gene

Proteins for BEST1 Gene

  • Protein details for BEST1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76090-BEST1_HUMAN
    Recommended name:
    Bestrophin-1
    Protein Accession:
    O76090
    Secondary Accessions:
    • A8K0W6
    • B7Z3J8
    • B7Z736
    • O75904
    • Q53YQ9
    • Q8IUR9
    • Q8IZ80

    Protein attributes for BEST1 Gene

    Size:
    585 amino acids
    Molecular mass:
    67684 Da
    Quaternary structure:
    • Homooligomer (tetramer or pentamer) (PubMed:26200502). May interact with PPP2CB and PPP2R1B (By similarity).
    SequenceCaution:
    • Sequence=BAH12234.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAH13472.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for BEST1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BEST1 Gene

Proteomics data for BEST1 Gene at MOPED

Post-translational modifications for BEST1 Gene

Antibody Products

No data available for DME Specific Peptides for BEST1 Gene

Domains & Families for BEST1 Gene

Gene Families for BEST1 Gene

Protein Domains for BEST1 Gene

Graphical View of Domain Structure for InterPro Entry

O76090

UniProtKB/Swiss-Prot:

BEST1_HUMAN :
  • Belongs to the bestrophin family.
Family:
  • Belongs to the bestrophin family.
genes like me logo Genes that share domains with BEST1: view

Function for BEST1 Gene

Molecular function for BEST1 Gene

UniProtKB/Swiss-Prot Function:
Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.
genes like me logo Genes that share phenotypes with BEST1: view

Human Phenotype Ontology for BEST1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BEST1 Gene

MGI Knock Outs for BEST1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for BEST1 Gene

Localization for BEST1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BEST1 Gene

Cell membrane; Multi-pass membrane protein. Basolateral cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BEST1 Gene COMPARTMENTS Subcellular localization image for BEST1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
cytoskeleton 2
endoplasmic reticulum 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BEST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS 17003041
GO:0016020 membrane TAS 10737974
genes like me logo Genes that share ontologies with BEST1: view

Pathways & Interactions for BEST1 Gene

genes like me logo Genes that share pathways with BEST1: view

Pathways by source for BEST1 Gene

Gene Ontology (GO) - Biological Process for BEST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006821 chloride transport IDA 17003041
GO:1902476 chloride transmembrane transport IEA --
genes like me logo Genes that share ontologies with BEST1: view

No data available for SIGNOR curated interactions for BEST1 Gene

Drugs & Compounds for BEST1 Gene

(2) Drugs for BEST1 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(4) Additional Compounds for BEST1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
71-52-3
genes like me logo Genes that share compounds with BEST1: view

Transcripts for BEST1 Gene

Unigene Clusters for BEST1 Gene

Bestrophin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BEST1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11
SP1: - -
SP2: -
SP3: - - - - - -
SP4: - - -
SP5: - - - - - - - - - -
SP6:

Relevant External Links for BEST1 Gene

GeneLoc Exon Structure for
BEST1
ECgene alternative splicing isoforms for
BEST1

Expression for BEST1 Gene

mRNA expression in normal human tissues for BEST1 Gene

mRNA differential expression in normal tissues according to GTEx for BEST1 Gene

This gene is overexpressed in Whole Blood (x6.4), Brain - Spinal cord (cervical c-1) (x4.6), and Nerve - Tibial (x4.1).

Protein differential expression in normal tissues from HIPED for BEST1 Gene

This gene is overexpressed in Breast (66.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BEST1 Gene



SOURCE GeneReport for Unigene cluster for BEST1 Gene Hs.712676

mRNA Expression by UniProt/SwissProt for BEST1 Gene

O76090-BEST1_HUMAN
Tissue specificity: Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.
genes like me logo Genes that share expression patterns with BEST1: view

Protein tissue co-expression partners for BEST1 Gene

Primer Products

In Situ Assay Products

Orthologs for BEST1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BEST1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BEST1 36
  • 89 (a)
OneToOne
BEST1 35
  • 99.72 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia BEST1 35
  • 84.71 (n)
  • 81.27 (a)
BEST1 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BEST1 35
  • 86.31 (n)
  • 81.28 (a)
VMD2 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Best1 16
Best1 36
  • 59 (a)
OneToOne
Best1 35
  • 76.89 (n)
  • 70.26 (a)
oppossum
(Monodelphis domestica)
Mammalia BEST1 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BEST1 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Best1 35
  • 77.26 (n)
  • 69.72 (a)
chicken
(Gallus gallus)
Aves BEST1 35
  • 66.72 (n)
  • 61.87 (a)
BEST1 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BEST1 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia best1 35
  • 65.54 (n)
  • 65.04 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC560608 35
  • 64.19 (n)
  • 62.71 (a)
best1 36
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Best1 36
  • 25 (a)
ManyToMany
Best2 36
  • 23 (a)
ManyToMany
Best3 36
  • 29 (a)
ManyToMany
Best4 36
  • 29 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea best-1 36
  • 25 (a)
ManyToMany
best-10 36
  • 24 (a)
ManyToMany
best-11 36
  • 23 (a)
ManyToMany
best-12 36
  • 22 (a)
ManyToMany
best-13 36
  • 30 (a)
ManyToMany
best-14 36
  • 29 (a)
ManyToMany
best-15 36
  • 24 (a)
ManyToMany
best-16 36
  • 21 (a)
ManyToMany
best-17 36
  • 23 (a)
ManyToMany
best-18 36
  • 25 (a)
ManyToMany
best-19 36
  • 23 (a)
ManyToMany
best-2 36
  • 28 (a)
ManyToMany
best-20 36
  • 23 (a)
ManyToMany
best-21 36
  • 28 (a)
ManyToMany
best-22 36
  • 24 (a)
ManyToMany
best-23 36
  • 32 (a)
ManyToMany
best-24 36
  • 20 (a)
ManyToMany
best-25 36
  • 20 (a)
ManyToMany
best-26 36
  • 23 (a)
ManyToMany
best-3 36
  • 26 (a)
ManyToMany
best-4 36
  • 25 (a)
ManyToMany
best-5 36
  • 24 (a)
ManyToMany
best-6 36
  • 25 (a)
ManyToMany
best-7 36
  • 24 (a)
ManyToMany
best-8 36
  • 22 (a)
ManyToMany
best-9 36
  • 30 (a)
ManyToMany
C09B9.85 36
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToMany
Species with no ortholog for BEST1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BEST1 Gene

ENSEMBL:
Gene Tree for BEST1 (if available)
TreeFam:
Gene Tree for BEST1 (if available)

Paralogs for BEST1 Gene

Paralogs for BEST1 Gene

(4) SIMAP similar genes for BEST1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with BEST1: view

Variants for BEST1 Gene

Sequence variations from dbSNP and Humsavar for BEST1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs28940275 Macular dystrophy, vitelliform, 2 (VMD2) 61,951,822(+) CTTAC(A/C)CAAGC intron-variant, reference, missense
VAR_000831 Macular dystrophy, vitelliform, 2 (VMD2)
rs28940276 Macular dystrophy, vitelliform, 2 (VMD2) 61,951,831(+) GCCAA(A/G)TGGCT intron-variant, reference, missense
VAR_000833 Macular dystrophy, vitelliform, 2 (VMD2)
VAR_000834 Macular dystrophy, vitelliform, 2 (VMD2)

Structural Variations from Database of Genomic Variants (DGV) for BEST1 Gene

Variant ID Type Subtype PubMed ID
nsv897617 CNV Loss 21882294

Variation tolerance for BEST1 Gene

Residual Variation Intolerance Score: 72.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.64; 72.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BEST1 Gene

HapMap Linkage Disequilibrium report
BEST1
Human Gene Mutation Database (HGMD)
BEST1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BEST1 Gene

Disorders for BEST1 Gene

MalaCards: The human disease database

(28) MalaCards diseases for BEST1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa-50
  • retinitis pigmentosa, concentric
vitreoretinochoroidopathy
  • microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
macular dystrophy, vitelliform, 2
  • vitelliform macular dystrophy
bestrophinopathy, autosomal recessive
  • bestrophinopathy
best vitelliform macular dystrophy
  • vitelliform macular dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search BEST1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BEST1_HUMAN
  • Macular dystrophy, vitelliform, 2 (VMD2) [MIM:153700]: An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical egg-yolk macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss. {ECO:0000269 PubMed:10331951, ECO:0000269 PubMed:10394929, ECO:0000269 PubMed:10453731, ECO:0000269 PubMed:10682987, ECO:0000269 PubMed:10798642, ECO:0000269 PubMed:11241846, ECO:0000269 PubMed:11449320, ECO:0000269 PubMed:12187431, ECO:0000269 PubMed:12324875, ECO:0000269 PubMed:13129869, ECO:0000269 PubMed:14517959, ECO:0000269 PubMed:15176385, ECO:0000269 PubMed:18766995, ECO:0000269 PubMed:19357557, ECO:0000269 PubMed:21330666, ECO:0000269 PubMed:9662395, ECO:0000269 PubMed:9700209}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 50 (RP50) [MIM:613194]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:19853238}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]: A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies. {ECO:0000269 PubMed:18179881, ECO:0000269 PubMed:21330666, ECO:0000269 PubMed:26200502, ECO:0000269 PubMed:26720466}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [MIM:193220]: A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma. {ECO:0000269 PubMed:15452077}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BEST1

Genetic Association Database (GAD)
BEST1
Human Genome Epidemiology (HuGE) Navigator
BEST1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BEST1
genes like me logo Genes that share disorders with BEST1: view

No data available for Genatlas for BEST1 Gene

Publications for BEST1 Gene

  1. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. (PMID: 19853238) Davidson A.E. … Manson F.D. (Am. J. Hum. Genet. 2009) 3 4 23 67
  2. Bestrophin-1 enables Ca2+-activated Cl- conductance in epithelia. (PMID: 17003041) Barro Soria R. … Kunzelmann K. (J. Biol. Chem. 2009) 2 3 23
  3. Unexpected transcriptional activity of the human VMD2 promoter in retinal development. (PMID: 20238019) Zhu M. … Le Y.Z. (Adv. Exp. Med. Biol. 2010) 3 23
  4. Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1. (PMID: 19237432) Marsey L.L. … Winpenny J.P. (J. Physiol. (Lond.) 2009) 3 23
  5. Functional roles of bestrophins in ocular epithelia. (PMID: 19398034) Marmorstein A.D. … Peachey N.S. (Prog Retin Eye Res 2009) 3 23

Products for BEST1 Gene

Sources for BEST1 Gene

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