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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BEST3 Gene

protein-coding   GIFtS: 54
GCID: GC12M070037

Bestrophin 3

(Previous name: vitelliform macular dystrophy 2-like 3)
(Previous symbol: VMD2L3)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Bestrophin 31 2
VMD2L31 2 3 5
Vitelliform Macular Dystrophy 2-Like 31 2
Vitelliform Macular Dystrophy 2-Like Protein 32 3
bestrophin-32

External Ids:    HGNC: 171051   Entrez Gene: 1444532   Ensembl: ENSG000001273257   OMIM: 6073375   UniProtKB: Q8N1M13   

Export aliases for BEST3 gene to outside databases

Previous GC identifers: GC12M068326 GC12M067096


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and cleft palate, and among its related super-pathways are Stimuli-sensing channels and SLC-mediated transmembrane transport. GO annotations related to this gene include chloride channel activity and molecular_function. An important paralog of this gene is BEST2.

UniProtKB/Swiss-Prot: BEST3_HUMAN, Q8N1M1
Function: Forms calcium-sensitive (By similarity) chloride channels. Permeable to bicarbonate (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BEST3 gene promoter:
         MEF-2A   USF1   USF-1   Lmo2   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BEST3 promoter sequence
   Search SABiosciences Chromatin IP Primers for BEST3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BEST3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q14.2-q15   Ensembl cytogenetic band:  12q15   HGNC cytogenetic band: 12q14.2-q15

BEST3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BEST3 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M070037:  view genomic region     (about GC identifiers)

Start:
70,037,140 bp from pter      End:
70,093,256 bp from pter
Size:
56,117 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BEST3_HUMAN, Q8N1M1 (See protein sequence)
Recommended Name: Bestrophin-3  
Size: 668 amino acids; 76107 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: B5MDI8 Q53YQ7 Q8N356 Q8NFT9 Q9BR80
Alternative splicing: 4 isoforms:  Q8N1M1-2   Q8N1M1-1   Q8N1M1-4   Q8N1M1-5   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for BEST3: NX_Q8N1M1

Explore proteomics data for BEST3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N1M1

  • BEST3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BEST3 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001269542.1  NP_001269543.1  NP_001269544.1  NP_001269545.1  NP_116124.2  NP_689652.2  

    ENSEMBL proteins: 
     ENSP00000449868   ENSP00000329064   ENSP00000433213   ENSP00000332413   ENSP00000449548  
     ENSP00000434713   ENSP00000447689   ENSP00000446575   ENSP00000266661   ENSP00000449377  
     ENSP00000377032  
    Reactome Protein details: Q8N1M1
    Human Recombinant Protein Products for BEST3: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene MassSpec for BEST3 
    OriGene Custom Protein Services for BEST3
    GenScript Custom Purified and Recombinant Proteins Services for BEST3
    Novus Biologicals BEST3 Protein
    Novus Biologicals BEST3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BEST3 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0034707chloride channel complex IEA--

    BEST3 for ontologies           About GeneDecksing



    BEST3 Antibody Products: 
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    ThermoFisher Antibodies for BEST3
    LSBio Antibodies in human, mouse, rat for BEST3 

    Assay Products for BEST3: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for BEST3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BEST3 
    Cloud-Clone Corp. CLIAs for BEST3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    BEST: Ion channels / Chloride channels : Calcium activated : Bestrophins

    2 InterPro protein domains:
     IPR021134 Bestrophin/UPF0187
     IPR000615 Bestrophin

    Graphical View of Domain Structure for InterPro Entry Q8N1M1

    ProtoNet protein and cluster: Q8N1M1

    1 Blocks protein domain: IPB000615 Putative membrane protein

    UniProtKB/Swiss-Prot: BEST3_HUMAN, Q8N1M1
    Similarity: Belongs to the bestrophin family


    BEST3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BEST3_HUMAN, Q8N1M1
    Function: Forms calcium-sensitive (By similarity) chloride channels. Permeable to bicarbonate (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005254chloride channel activity IEA--
         
    BEST3 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for BEST3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BEST3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BEST3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BEST3 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BEST3
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate BEST3 (see all 9):
    hsa-miR-582-3p hsa-miR-365 hsa-miR-562 hsa-miR-218-1* hsa-miR-4267 hsa-miR-21 hsa-miR-590-5p hsa-miR-659
    SwitchGear 3'UTR luciferase reporter plasmidBEST3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for BEST3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BEST3

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of BEST3

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for BEST3 (see all 12)
    OriGene ORF clones in mouse, rat for BEST3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BEST3 (NM_152439)
    Sino Biological Human cDNA Clone for BEST3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BEST3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BEST3
    Sirion Biotech Customized lentivirus for stable overexpression of BEST3 
                         Customized lentivirus expression plasmids for stable overexpression of BEST3 

    Cell Line
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    Search LifeMap BioReagents cell lines for BEST3
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEST3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BEST3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.49
    Stimuli-sensing channels0.49
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3        Reactome Pathways for BEST3
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport



    BEST3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BEST3

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0015698inorganic anion transport ----
    GO:0043271negative regulation of ion transport IEA--

    BEST3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BEST3

    3 HMDB Compounds for BEST3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    ChlorineCl2 (see all 13)16887-00-6--
    Hydrogen carbonateBicarbonate (see all 19)71-52-3--

    Search CenterWatch for drugs/clinical trials and news about BEST3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BEST3 gene (6 alternative transcripts): 
    NM_001282613.1  NM_001282614.1  NM_001282615.1  NM_001282616.1  NM_032735.2  NM_152439.3  

    Unigene Cluster for BEST3:

    Bestrophin 3
    Hs.280782  [show with all ESTs]
    Unigene Representative Sequence: NM_032735
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000547208 ENST00000331471(uc001svd.2) ENST00000488961(uc001svf.3)
    ENST00000330891(uc001svg.3 uc010stm.2) ENST00000553096 ENST00000476098
    ENST00000552295 ENST00000548658 ENST00000266661(uc001svi.1) ENST00000529843
    ENST00000551160 ENST00000533674 ENST00000393365
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BEST3
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate BEST3 (see all 9):
    hsa-miR-582-3p hsa-miR-365 hsa-miR-562 hsa-miR-218-1* hsa-miR-4267 hsa-miR-21 hsa-miR-590-5p hsa-miR-659
    SwitchGear 3'UTR luciferase reporter plasmidBEST3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for BEST3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BEST3
    Clone
    Products:
         
    OriGene clones in human, mouse for BEST3 (see all 12)
    OriGene ORF clones in mouse, rat for BEST3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BEST3 (NM_152439)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BEST3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BEST3
    Sirion Biotech Customized lentivirus for stable overexpression of BEST3 
                         Customized lentivirus expression plasmids for stable overexpression of BEST3 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for BEST3
    OriGene qSTAR qPCR primer pairs in human, mouse for BEST3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BEST3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BEST3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BEST3

    Additional mRNA sequence: 

    AF440758.1 AK096459.1 AY515706.1 BC006440.1 BC028087.1 BC151138.1 

    8 DOTS entries:

    DT.95258888  DT.206522  DT.95328575  DT.75182139  DT.100831916  DT.121184315  DT.121184318  DT.302823 

    24/52 AceView cDNA sequences (see all 52):

    BQ955380 CR612373 AK096459 AF440758 AA992681 AI268770 AY515706 AI302692 
    CR614874 AA779910 BC028087 NM_152439 F28060 BE267947 AW674562 BE793366 
    AI681290 BE245306 BI225734 AA878383 AA777061 BC006440 AI040144 AW296449 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for BEST3 (see all 9)    About this scheme

    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:                                                                                                  -           -           -     -               


    ECgene alternative splicing isoforms for BEST3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BEST3 expression in normal human tissues (normalized intensities)      BEST3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTTCAAAA
    BEST3 Expression
    About this image


    BEST3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             vastus lateralis   
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 2 entries
             mouth   
     
     Blood (Hematopoietic System)
             Small Pre B-Cells Hematopoietic Bone Marrow

    See BEST3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BEST3

    SOURCE GeneReport for Unigene cluster: Hs.280782

    UniProtKB/Swiss-Prot: BEST3_HUMAN, Q8N1M1
    Tissue specificity: Present in skeletal muscle and weakly in brain, spinal cord, bone marrow and retina

        SABiosciences Custom PCR Arrays for BEST3
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BEST3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEST3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for BEST3 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Best31 , 5 bestrophin 31, 5 84.17(n)1
    86.72(a)1
      10 (65.00 cM)5
    3824271  NM_001007583.11  NP_001007584.11 
     1169863145 
    chicken
    (Gallus gallus)
    Aves BEST31 bestrophin 3 66.92(n)
    66.26(a)
      417849  NM_001199669.1  NP_001186598.1 
    lizard
    (Anolis carolinensis)
    Reptilia BEST36
    Uncharacterized protein
    58(a)
    1 ↔ 1
    GL343256.1(1673716-1705714)
    fruit fly
    (Drosophila melanogaster)
    Insecta Best31 Bestrophin 3 52.55(n)
    46.17(a)
      39661  NM_168618.2  NP_730039.1 
    worm
    (Caenorhabditis elegans)
    Secernentea best-236
    best-26
    (see all 27)
    Uncharacterized protein B0564.4
    (see all 27)
    36(a)
    35(a)
    (see all 27)
    many ↔ many
    many ↔ many
    (see all 27)
    II(7904638-7907589)
    IV(13111520-13113082)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BEST3 gene
    BEST22  BEST42  BEST12  
    3 SIMAP similar genes for BEST3 using alignment to 6 protein entries:     BEST3_HUMAN (see all proteins):
    BEST2    BEST4    BEST1

    BEST3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1089 SNPs in BEST3 are shown (see all 1089)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs72971151,2
    C,F,H--67144580(+) CCTTGC/AACCTT 1 -- us2k15Minor allele frequency- A:0.01NS EA NA 540
    rs666246471,2
    C--69906163(-) TCTCC-/A/AA  
            
    AAAAA
    2 -- int12NA 4
    rs1916877661,2
    --70046931(+) GAGGGA/TCCTGC 2 -- ds50010--------
    rs1848311801,2
    --70047019(+) GCATAA/GAAGAC 2 -- ds50010--------
    rs19797151,2
    C,F,A,H--70047028(-) TCTACC/GTGCGT 2 -- ds500120Minor allele frequency- G:0.22NS EA NA WA CSA 1342
    rs1901702191,2
    --70047034(+) GTAGAA/CTTGAG 2 -- ds50010--------
    rs1818181491,2
    --70047296(+) CTAAAA/GCCTGT 2 -- ds50010--------
    rs111777731,2
    C,F,H--70047351(+) agattC/TGCTGC 2 -- ds500122Minor allele frequency- T:0.13NS EA NA CSA WA 2098
    rs21614381,2
    C,F--70047362(-) TGTTCC/TAGGCA 2 -- ds500110Minor allele frequency- T:0.17NA WA CSA EA 504
    rs1873750241,2
    C--70047370(+) ACAGTA/GTAAGC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for BEST3 (70037140 - 70093256 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for BEST3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2667241CNV Deletion23128226
    esv2746019CNV Deletion23290073
    nsv507651CNV Insertion20534489
    nsv899229CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607337    OMIM disorders: --

    4 diseases for BEST3:    About MalaCards
    vitelliform macular dystrophy    cleft palate    cleft lip    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for BEST3:
    Vitelliform macular dystrophy

    BEST3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BEST3

    Export disorders for BEST3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BEST3 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with BEST3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. (PubMed id 12032738)1, 2, 3 Stoehr H.... Weber B.H.F. (2002)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Structure-function analysis of the bestrophin family of anion channels. (PubMed id 12907679)1, 2 Tsunenari T....Nathans J. (2003)
    5. Activation of bestrophin Cl- channels is regulated by C-terminal domains. (PubMed id 17442670)1, 9 Qu Z.Q....Hartzell C. (2007)
    6. Genome-wide meta-analyses of nonsyndromic cleft lip wi th or without cleft palate identify six new risk loci. (PubMed id 22863734)1 Ludwig K.U....Nothen M.M. (2012)
    7. Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1. (PubMed id 19237432)1 Marsey L.L. and Winpenny J.P. (2009)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    9. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)
    10. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 144453 HGNC: 17105 AceView: MGC13168 Ensembl:ENSG00000127325 euGenes: HUgn144453
    ECgene: BEST3 H-InvDB: BEST3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BEST3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BEST3 gene:
    Search GeneIP for patents involving BEST3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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