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Aliases for BEST3 Gene

Aliases for BEST3 Gene

  • Bestrophin 3 2 3 5
  • Vitelliform Macular Dystrophy 2-Like Protein 3 3 4
  • Vitelliform Macular Dystrophy 2-Like 3 2 3
  • VMD2L3 3 4

External Ids for BEST3 Gene

Previous HGNC Symbols for BEST3 Gene

  • VMD2L3

Previous GeneCards Identifiers for BEST3 Gene

  • GC12M068326
  • GC12M070037
  • GC12M067096

Summaries for BEST3 Gene

Entrez Gene Summary for BEST3 Gene

  • BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008]

GeneCards Summary for BEST3 Gene

BEST3 (Bestrophin 3) is a Protein Coding gene. Diseases associated with BEST3 include Vitelliform Macular Dystrophy. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include chloride channel activity. An important paralog of this gene is BEST2.

UniProtKB/Swiss-Prot for BEST3 Gene

  • Forms calcium-sensitive chloride channels. Permeable to bicarbonate.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BEST3 Gene

Genomics for BEST3 Gene

Regulatory Elements for BEST3 Gene

Enhancers for BEST3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BEST3 on UCSC Golden Path with GeneCards custom track

Promoters for BEST3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BEST3 on UCSC Golden Path with GeneCards custom track

Genomic Location for BEST3 Gene

69,643,360 bp from pter
69,699,476 bp from pter
56,117 bases
Minus strand

Genomic View for BEST3 Gene

Genes around BEST3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BEST3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BEST3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BEST3 Gene

Proteins for BEST3 Gene

  • Protein details for BEST3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B5MDI8
    • F8VVZ2
    • Q53YQ7
    • Q8N356
    • Q8NFT9
    • Q9BR80

    Protein attributes for BEST3 Gene

    668 amino acids
    Molecular mass:
    76107 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BEST3 Gene


neXtProt entry for BEST3 Gene

Proteomics data for BEST3 Gene at MOPED

Post-translational modifications for BEST3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BEST3 Gene

Domains & Families for BEST3 Gene

Gene Families for BEST3 Gene

Protein Domains for BEST3 Gene

Suggested Antigen Peptide Sequences for BEST3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the bestrophin family.
  • Belongs to the bestrophin family.
genes like me logo Genes that share domains with BEST3: view

Function for BEST3 Gene

Molecular function for BEST3 Gene

UniProtKB/Swiss-Prot Function:
Forms calcium-sensitive chloride channels. Permeable to bicarbonate.
genes like me logo Genes that share phenotypes with BEST3: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BEST3 Gene

Localization for BEST3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BEST3 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for BEST3 Gene COMPARTMENTS Subcellular localization image for BEST3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BEST3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BEST3: view

Pathways & Interactions for BEST3 Gene

genes like me logo Genes that share pathways with BEST3: view

Pathways by source for BEST3 Gene

Interacting Proteins for BEST3 Gene

Gene Ontology (GO) - Biological Process for BEST3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:1902476 chloride transmembrane transport IBA --
genes like me logo Genes that share ontologies with BEST3: view

No data available for SIGNOR curated interactions for BEST3 Gene

Drugs & Compounds for BEST3 Gene

(1) Drugs for BEST3 Gene - From: HMDB

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

(2) Additional Compounds for BEST3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
genes like me logo Genes that share compounds with BEST3: view

Transcripts for BEST3 Gene

Unigene Clusters for BEST3 Gene

Bestrophin 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BEST3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b
SP1: - - - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - - - -
SP5: - - - -
SP6: - - - - -
SP7: - - -
SP8: - -
SP9: - - - -

Relevant External Links for BEST3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BEST3 Gene

mRNA expression in normal human tissues for BEST3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BEST3 Gene

This gene is overexpressed in Muscle - Skeletal (x33.3).

Protein differential expression in normal tissues from HIPED for BEST3 Gene

This gene is overexpressed in Prostate (40.1) and Peripheral blood mononuclear cells (28.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BEST3 Gene

SOURCE GeneReport for Unigene cluster for BEST3 Gene Hs.280782

mRNA Expression by UniProt/SwissProt for BEST3 Gene

Tissue specificity: Present in skeletal muscle and weakly in brain, spinal cord, bone marrow and retina.
genes like me logo Genes that share expression patterns with BEST3: view

Protein tissue co-expression partners for BEST3 Gene

Primer Products

Orthologs for BEST3 Gene

This gene was present in the common ancestor of animals.

Orthologs for BEST3 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia BEST3 35
  • 86.07 (n)
  • 82.67 (a)
BEST3 36
  • 81 (a)
(Canis familiaris)
Mammalia BEST3 35
  • 80.52 (n)
  • 78.91 (a)
BEST3 36
  • 77 (a)
(Mus musculus)
Mammalia Best3 35
  • 83.87 (n)
  • 86.41 (a)
Best3 16
Best3 36
  • 85 (a)
(Pan troglodytes)
Mammalia BEST3 35
  • 99.6 (n)
  • 99.7 (a)
BEST3 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Best3 35
  • 84.2 (n)
  • 85.82 (a)
(Monodelphis domestica)
Mammalia BEST3 36
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia BEST3 36
  • 74 (a)
(Gallus gallus)
Aves BEST3 35
  • 66.67 (n)
  • 66 (a)
BEST3 36
  • 63 (a)
(Anolis carolinensis)
Reptilia BEST3 36
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia best3 35
  • 64.03 (n)
  • 65.72 (a)
fruit fly
(Drosophila melanogaster)
Insecta Best3 35
  • 52.37 (n)
  • 46.17 (a)
Best1 36
  • 27 (a)
Best2 36
  • 27 (a)
Best3 36
  • 35 (a)
Best4 36
  • 35 (a)
(Caenorhabditis elegans)
Secernentea best-1 36
  • 32 (a)
best-10 36
  • 30 (a)
best-11 36
  • 25 (a)
best-12 36
  • 26 (a)
best-13 36
  • 31 (a)
best-14 36
  • 35 (a)
best-15 36
  • 30 (a)
best-16 36
  • 29 (a)
best-17 36
  • 27 (a)
best-18 36
  • 30 (a)
best-19 36
  • 28 (a)
best-2 36
  • 35 (a)
best-20 36
  • 28 (a)
best-21 36
  • 34 (a)
best-22 36
  • 29 (a)
best-23 36
  • 36 (a)
best-24 36
  • 25 (a)
best-25 36
  • 23 (a)
best-26 36
  • 27 (a)
best-3 36
  • 31 (a)
best-4 36
  • 31 (a)
best-5 36
  • 32 (a)
best-6 36
  • 31 (a)
best-7 36
  • 29 (a)
best-8 36
  • 30 (a)
best-9 36
  • 33 (a)
C09B9.85 36
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
Species with no ortholog for BEST3:
  • 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)
  • zebrafish (Danio rerio)

Evolution for BEST3 Gene

Gene Tree for BEST3 (if available)
Gene Tree for BEST3 (if available)

Paralogs for BEST3 Gene

Paralogs for BEST3 Gene

(3) SIMAP similar genes for BEST3 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with BEST3: view

Variants for BEST3 Gene

Sequence variations from dbSNP and Humsavar for BEST3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1025016 - 69,697,672(+) TGTAT(A/G)AAGAA intron-variant, reference, missense, utr-variant-5-prime
rs17106884 - 69,655,049(+) ATGTT(C/T)CTGTG intron-variant, reference, missense
rs1968996 -- 69,663,022(-) AGGGC(A/C)TTGGA intron-variant
rs1979715 -- 69,653,248(-) TCTAC(C/G)TGCGT intron-variant, downstream-variant-500B, utr-variant-3-prime
rs1992611 -- 69,687,532(+) AGCGG(C/T)GCACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BEST3 Gene

Variant ID Type Subtype PubMed ID
nsv899229 CNV Gain 21882294
nsv507651 CNV Insertion 20534489
esv2746019 CNV Deletion 23290073
esv2667241 CNV Deletion 23128226

Variation tolerance for BEST3 Gene

Residual Variation Intolerance Score: 54.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.25; 76.26% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for BEST3 Gene

Disorders for BEST3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BEST3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
vitelliform macular dystrophy
  • best disease
- elite association - COSMIC cancer census association via MalaCards
Search BEST3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BEST3

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with BEST3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BEST3 Gene

Publications for BEST3 Gene

  1. Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. (PMID: 12032738) Stoehr H. … Weber B.H.F. (Eur. J. Hum. Genet. 2002) 2 3 4 67
  2. Activation of bestrophin Cl- channels is regulated by C-terminal domains. (PMID: 17442670) Qu Z.Q. … Hartzell C. (J. Biol. Chem. 2007) 3 23
  3. Bestrophin 3 ameliorates TNFI+-induced inflammation by inhibiting NF-I_B activation in endothelial cells. (PMID: 25329324) Song W. … He B. (PLoS ONE 2014) 3
  4. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. (PMID: 22863734) Ludwig K.U. … NAPthen M.M. (Nat. Genet. 2012) 3
  5. 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

Products for BEST3 Gene

Sources for BEST3 Gene