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Aliases for BEST2 Gene

Aliases for BEST2 Gene

  • Bestrophin 2 2 3 5
  • Vitelliform Macular Dystrophy 2-Like Protein 1 3 4
  • Vitelliform Macular Dystrophy 2-Like 1 2 3
  • VMD2L1 3 4
  • VMD2-Like Gene 1 3

External Ids for BEST2 Gene

Previous HGNC Symbols for BEST2 Gene

  • VMD2L1

Previous GeneCards Identifiers for BEST2 Gene

  • GC19P012864
  • GC19P012436

Summaries for BEST2 Gene

Entrez Gene Summary for BEST2 Gene

  • 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]

GeneCards Summary for BEST2 Gene

BEST2 (Bestrophin 2) is a Protein Coding gene. Diseases associated with BEST2 include vitelliform macular dystrophy and bestrophinopathy. Among its related pathways are Salivary secretion and Ion channel transport. GO annotations related to this gene include chloride channel activity. An important paralog of this gene is BEST1.

UniProtKB/Swiss-Prot for BEST2 Gene

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

Gene Wiki entry for BEST2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BEST2 Gene

Genomics for BEST2 Gene

Regulatory Elements for BEST2 Gene

Enhancers for BEST2 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 BEST2 on UCSC Golden Path with GeneCards custom track

Genomic Location for BEST2 Gene

Chromosome:
19
Start:
12,751,676 bp from pter
End:
12,758,458 bp from pter
Size:
6,783 bases
Orientation:
Plus strand

Genomic View for BEST2 Gene

Genes around BEST2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BEST2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BEST2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BEST2 Gene

Proteins for BEST2 Gene

  • Protein details for BEST2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFU1-BEST2_HUMAN
    Recommended name:
    Bestrophin-2
    Protein Accession:
    Q8NFU1
    Secondary Accessions:
    • Q53YQ8
    • Q9NXP0

    Protein attributes for BEST2 Gene

    Size:
    509 amino acids
    Molecular mass:
    57139 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA90970.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for BEST2 Gene

Proteomics data for BEST2 Gene at MOPED

Post-translational modifications for BEST2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BEST2 Gene

No data available for DME Specific Peptides for BEST2 Gene

Domains & Families for BEST2 Gene

Gene Families for BEST2 Gene

Protein Domains for BEST2 Gene

Suggested Antigen Peptide Sequences for BEST2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFU1

UniProtKB/Swiss-Prot:

BEST2_HUMAN :
  • Belongs to the bestrophin family.
Family:
  • Belongs to the bestrophin family.
genes like me logo Genes that share domains with BEST2: view

Function for BEST2 Gene

Molecular function for BEST2 Gene

UniProtKB/Swiss-Prot Function:
Forms calcium-sensitive chloride channels. Permeable to bicarbonate.
genes like me logo Genes that share phenotypes with BEST2: view

Animal Models for BEST2 Gene

MGI Knock Outs for BEST2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for BEST2 Gene

Localization for BEST2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BEST2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BEST2 Gene COMPARTMENTS Subcellular localization image for BEST2 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
cytosol 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for BEST2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
genes like me logo Genes that share ontologies with BEST2: view

Pathways & Interactions for BEST2 Gene

genes like me logo Genes that share pathways with BEST2: view

Pathways by source for BEST2 Gene

1 KEGG pathway for BEST2 Gene

Interacting Proteins for BEST2 Gene

Gene Ontology (GO) - Biological Process for BEST2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007608 sensory perception of smell ISS --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with BEST2: view

No data available for SIGNOR curated interactions for BEST2 Gene

Drugs & Compounds for BEST2 Gene

(1) Drugs for BEST2 Gene - From: HMDB

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

(2) Additional Compounds for BEST2 Gene - From: HMDB

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 BEST2: view

Transcripts for BEST2 Gene

mRNA/cDNA for BEST2 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BEST2 Gene

Bestrophin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BEST2 Gene

No ASD Table

Relevant External Links for BEST2 Gene

GeneLoc Exon Structure for
BEST2
ECgene alternative splicing isoforms for
BEST2

Expression for BEST2 Gene

mRNA expression in normal human tissues for BEST2 Gene

mRNA differential expression in normal tissues according to GTEx for BEST2 Gene

This gene is overexpressed in Colon - Transverse (x30.6), Skin - Sun Exposed (Lower leg) (x7.5), Skin - Not Sun Exposed (Suprapubic) (x6.9), and Small Intestine - Terminal Ileum (x4.4).

Protein differential expression in normal tissues from HIPED for BEST2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (52.5) and Colon (14.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BEST2 Gene



SOURCE GeneReport for Unigene cluster for BEST2 Gene Hs.435611

mRNA Expression by UniProt/SwissProt for BEST2 Gene

Q8NFU1-BEST2_HUMAN
Tissue specificity: Mainly confined to the retinal pigment epithelium and colon.
genes like me logo Genes that share expression patterns with BEST2: view

Protein tissue co-expression partners for BEST2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for BEST2 Gene

Orthologs for BEST2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BEST2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BEST2 35
  • 85.53 (n)
  • 85.46 (a)
BEST2 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BEST2 35
  • 87.62 (n)
  • 89.59 (a)
BEST2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Best2 35
  • 83.04 (n)
  • 89.94 (a)
Best2 16
Best2 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BEST2 35
  • 99.48 (n)
  • 99.8 (a)
BEST2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Best2 35
  • 82.38 (n)
  • 90.14 (a)
oppossum
(Monodelphis domestica)
Mammalia BEST2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BEST2 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia best2 35
  • 69.82 (n)
  • 73.76 (a)
MGC75942 35
African clawed frog
(Xenopus laevis)
Amphibia MGC53680 35
zebrafish
(Danio rerio)
Actinopterygii best2 35
  • 69.41 (n)
  • 70.6 (a)
best2 36
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011745 35
  • 60.7 (n)
  • 53.48 (a)
fruit fly
(Drosophila melanogaster)
Insecta Best1 35
  • 57.93 (n)
  • 54.32 (a)
Best1 36
  • 28 (a)
ManyToMany
Best2 36
  • 25 (a)
ManyToMany
Best3 36
  • 34 (a)
ManyToMany
Best4 36
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea best-23 35
  • 45.29 (n)
  • 39.39 (a)
best-1 36
  • 31 (a)
ManyToMany
best-10 36
  • 29 (a)
ManyToMany
best-11 36
  • 26 (a)
ManyToMany
best-12 36
  • 25 (a)
ManyToMany
best-13 36
  • 30 (a)
ManyToMany
best-14 36
  • 35 (a)
ManyToMany
best-15 36
  • 28 (a)
ManyToMany
best-16 36
  • 28 (a)
ManyToMany
best-17 36
  • 28 (a)
ManyToMany
best-18 36
  • 32 (a)
ManyToMany
best-19 36
  • 27 (a)
ManyToMany
best-2 36
  • 32 (a)
ManyToMany
best-20 36
  • 27 (a)
ManyToMany
best-21 36
  • 33 (a)
ManyToMany
best-22 36
  • 28 (a)
ManyToMany
best-23 36
  • 38 (a)
ManyToMany
best-24 36
  • 25 (a)
ManyToMany
best-25 36
  • 22 (a)
ManyToMany
best-26 36
  • 27 (a)
ManyToMany
best-3 36
  • 28 (a)
ManyToMany
best-4 36
  • 28 (a)
ManyToMany
best-5 36
  • 28 (a)
ManyToMany
best-6 36
  • 32 (a)
ManyToMany
best-7 36
  • 27 (a)
ManyToMany
best-8 36
  • 27 (a)
ManyToMany
best-9 36
  • 32 (a)
ManyToMany
C09B9.85 36
  • 21 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
Species with no ortholog for BEST2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 BEST2 Gene

ENSEMBL:
Gene Tree for BEST2 (if available)
TreeFam:
Gene Tree for BEST2 (if available)

Paralogs for BEST2 Gene

Paralogs for BEST2 Gene

(3) SIMAP similar genes for BEST2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with BEST2: view

Variants for BEST2 Gene

Sequence variations from dbSNP and Humsavar for BEST2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs7260286 -- 12,753,201(+) AGAGA(C/T)CTGAA intron-variant
rs71168628 -- 12,754,093(-) ATCTC(-/A)AAAAA intron-variant
rs17706412 -- 12,755,007(+) GACAA(C/T)AGCGC reference, synonymous-codon
rs28368227 -- 12,754,273(+) TTCAC(C/T)ATGCT intron-variant
rs28498015 -- 12,753,842(+) GGGCC(A/G)GGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BEST2 Gene

Variant ID Type Subtype PubMed ID
dgv3733n71 CNV Loss 21882294
nsv911077 CNV Loss 21882294
nsv911079 CNV Loss 21882294

Variation tolerance for BEST2 Gene

Residual Variation Intolerance Score: 21.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.73; 66.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BEST2 Gene

HapMap Linkage Disequilibrium report
BEST2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BEST2 Gene

Disorders for BEST2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BEST2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
vitelliform macular dystrophy
  • best disease
bestrophinopathy
  • bestrophinopathy, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards
Search BEST2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BEST2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BEST2
genes like me logo Genes that share disorders with BEST2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BEST2 Gene

Publications for BEST2 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. Bestrophin 2 is expressed in human non-pigmented ciliary epithelium but not retinal pigment epithelium. (PMID: 20157619) Zhang Y. … Marmorstein A.D. (Mol. Vis. 2010) 3 23
  3. Bestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transduction. (PMID: 16912113) Pifferi S. … Zucchelli S. (Proc. Natl. Acad. Sci. U.S.A. 2006) 2 3
  4. Lineage-specific expression of bestrophin-2 and bestrophin-4 in human intestinal epithelial cells. (PMID: 24223998) Ito G. … Watanabe M. (PLoS ONE 2013) 3
  5. Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. (PMID: 22360420) Martins-de-Souza D. … Bahn S. (J. Proteome Res. 2012) 3

Products for BEST2 Gene

Sources for BEST2 Gene

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