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Aliases for BEST3 Gene

Aliases for BEST3 Gene

  • Bestrophin 3 2 3
  • VMD2L3 3 4 6
  • Vitelliform Macular Dystrophy 2-Like Protein 3 3 4
  • Vitelliform Macular Dystrophy 2-Like 3 2 3
  • Bestrophin-3 3

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 2 and 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

Genomic Location for BEST3 Gene

Start:
69,643,360 bp from pter
End:
69,699,476 bp from pter
Size:
56,117 bases
Orientation:
Minus strand

Genomic View for BEST3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q8N1M1-BEST3_HUMAN
    Recommended name:
    Bestrophin-3
    Protein Accession:
    Q8N1M1
    Secondary Accessions:
    • B5MDI8
    • F8VVZ2
    • Q53YQ7
    • Q8N356
    • Q8NFT9
    • Q9BR80

    Protein attributes for BEST3 Gene

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

    Alternative splice isoforms for BEST3 Gene

    UniProtKB/Swiss-Prot:

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

Antibody Products

No data available for DME Specific Peptides for BEST3 Gene

Domains for BEST3 Gene

Gene Families for BEST3 Gene

HGNC:
  • BEST :Ion channels / Chloride channels : Calcium activated : Bestrophins

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

Q8N1M1

UniProtKB/Swiss-Prot:

BEST3_HUMAN :
  • Q8N1M1
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.

Gene Ontology (GO) - Molecular Function for BEST3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005254 chloride channel activity IEA --
genes like me logo Genes that share ontologies with BEST3: view

miRNA for BEST3 Gene

miRTarBase miRNAs that target BEST3

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BEST3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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

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

Gene Ontology (GO) - Cellular Components for BEST3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0034707 chloride channel complex IEA --
genes like me logo Genes that share ontologies with BEST3: view

Pathways 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:0015698 inorganic anion transport --
GO:0043271 negative regulation of ion transport IEA --
GO:1902476 chloride transmembrane transport IEA --
genes like me logo Genes that share ontologies with BEST3: view

Compounds for BEST3 Gene

(3) HMDB Compounds for BEST3 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Chlorine
  • Cl2
16887-00-6
Hydrogen carbonate
  • Bicarbonate
71-52-3
genes like me logo Genes that share compounds with BEST3: view

Transcripts for BEST3 Gene

Unigene Clusters for BEST3 Gene

Bestrophin 3:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BEST3

Primer Products

Flow Cytometry Products

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
BEST3
ECgene alternative splicing isoforms for
BEST3

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 (33.3).

Protein differential expression in normal tissues for BEST3 Gene

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

Integrated Proteomics: protein expression 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

Q8N1M1-BEST3_HUMAN
Tissue specificity: Present in skeletal muscle and weakly in brain, spinal cord, bone marrow and retina.
genes like me logo Genes that share expressions with BEST3: view

Expression partners for BEST3 Gene

In Situ Assay 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
cow
(Bos Taurus)
Mammalia BEST3 35
  • 86.07 (n)
  • 82.67 (a)
BEST3 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BEST3 35
  • 80.52 (n)
  • 78.91 (a)
BEST3 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Best3 35
  • 83.87 (n)
  • 86.41 (a)
Best3 16
Best3 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BEST3 35
  • 99.6 (n)
  • 99.7 (a)
BEST3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Best3 35
  • 84.2 (n)
  • 85.82 (a)
oppossum
(Monodelphis domestica)
Mammalia BEST3 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BEST3 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves BEST3 35
  • 66.67 (n)
  • 66 (a)
BEST3 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BEST3 36
  • 61 (a)
OneToOne
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)
ManyToMany
Best2 36
  • 27 (a)
ManyToMany
Best3 36
  • 35 (a)
ManyToMany
Best4 36
  • 35 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea best-1 36
  • 32 (a)
ManyToMany
best-10 36
  • 30 (a)
ManyToMany
best-11 36
  • 25 (a)
ManyToMany
best-12 36
  • 26 (a)
ManyToMany
best-13 36
  • 31 (a)
ManyToMany
best-14 36
  • 35 (a)
ManyToMany
best-15 36
  • 30 (a)
ManyToMany
best-16 36
  • 29 (a)
ManyToMany
best-17 36
  • 27 (a)
ManyToMany
best-18 36
  • 30 (a)
ManyToMany
best-19 36
  • 28 (a)
ManyToMany
best-2 36
  • 35 (a)
ManyToMany
best-20 36
  • 28 (a)
ManyToMany
best-21 36
  • 34 (a)
ManyToMany
best-22 36
  • 29 (a)
ManyToMany
best-23 36
  • 36 (a)
ManyToMany
best-24 36
  • 25 (a)
ManyToMany
best-25 36
  • 23 (a)
ManyToMany
best-26 36
  • 27 (a)
ManyToMany
best-3 36
  • 31 (a)
ManyToMany
best-4 36
  • 31 (a)
ManyToMany
best-5 36
  • 32 (a)
ManyToMany
best-6 36
  • 31 (a)
ManyToMany
best-7 36
  • 29 (a)
ManyToMany
best-8 36
  • 30 (a)
ManyToMany
best-9 36
  • 33 (a)
ManyToMany
C09B9.85 36
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
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

ENSEMBL:
Gene Tree for BEST3 (if available)
TreeFam:
Gene Tree for BEST3 (if available)

Paralogs for BEST3 Gene

Paralogs for BEST3 Gene

Selected 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 MAF
rs10906 -- 69,653,718(-) TTGTC(A/G)TGGGC utr-variant-3-prime, intron-variant
rs698129 -- 69,659,465(-) AAGGT(A/G)GGATG intron-variant
rs698130 -- 69,659,357(-) AAATA(A/T)ATACG intron-variant
rs710710 -- 69,697,576(+) AAAAG(G/T)TTCAG intron-variant
rs710711 -- 69,688,577(+) CAAGA(A/G)AAGTT 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

Relevant External Links for BEST3 Gene

HapMap Linkage Disequilibrium report
BEST3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BEST3 Gene

Disorders for BEST3 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for BEST3 Gene in MalaCards »

(2) Diseases for BEST3 Gene including...

(1) University of Copenhagen DISEASES for BEST3 Gene

Relevant External Links for BEST3

Genetic Association Database (GAD)
BEST3
genes like me logo Genes that share disorders with BEST3: view

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships 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
  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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Structure-function analysis of the bestrophin family of anion channels. (PMID: 12907679) Tsunenari T. … Nathans J. (J. Biol. Chem. 2003) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for BEST3 Gene

Sources for BEST3 Gene

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