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

BEST1 Gene

protein-coding   GIFtS: 63
GCID: GC11P061717

Bestrophin 1

(Previous name: vitelliform macular dystrophy 2)
(Previous symbol: VMD2)
  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 11 2     RP502 5
VMD21 2 3 5     Vitelliform Macular Dystrophy 21
Best Disease1 2     BEST2
Vitelliform Macular Dystrophy Protein 22 3     BMD2
TU15B2 3     Best1V1Delta22
ARB2 5     bestrophin-12

External Ids:    HGNC: 127031   Entrez Gene: 74392   Ensembl: ENSG000001679957   OMIM: 6078545   UniProtKB: O760903   

Export aliases for BEST1 gene to outside databases

Previous GC identifers: GC11P061475 GC11P058045


(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 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 vitelliform macular dystrophy, and best vitelliform macular dystrophy, 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. An important paralog of this gene is BEST2.

UniProtKB/Swiss-Prot: BEST1_HUMAN, O76090
Function: Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate

Gene Wiki entry for BEST1 (Bestrophin 1) Gene


(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_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BEST1 gene promoter:
         NRSF form 1   LCR-F1   NRSF form 2   CBF-C   CBF-A   CBF-B   CP1A   CP1C   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBEST1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BEST1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BEST1


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q12.3   HGNC cytogenetic band: 11q12

BEST1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BEST1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P061717:  view genomic region     (about GC identifiers)

Start:
61,717,293 bp from pter      End:
61,732,987 bp from pter
Size:
15,695 bases      Orientation:
plus 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: BEST1_HUMAN, O76090 (See protein sequence)
Recommended Name: Bestrophin-1  
Size: 585 amino acids; 67684 Da
Subunit: Tetramer or pentamers. May interact with PPP2CB and PPP2R1B (By similarity)
Subcellular location: Cell membrane; Multi-pass membrane protein. Basolateral cell membrane
Sequence caution: Sequence=BAH12234.1; Type=Erroneous initiation; Sequence=BAH13472.1; Type=Erroneous initiation;
Secondary accessions: A8K0W6 B7Z3J8 B7Z736 O75904 Q53YQ9 Q8IUR9 Q8IZ80
Alternative splicing: 3 isoforms:  O76090-1   O76090-3   O76090-4   

Explore the universe of human proteins at neXtProt for BEST1: NX_O76090

Explore proteomics data for BEST1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by PP2A (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O76090

  • BEST1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BEST1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001132915.1  NP_004174.1  

    ENSEMBL proteins: 
     ENSP00000367282   ENSP00000431189   ENSP00000432681   ENSP00000399709   ENSP00000433195  
     ENSP00000408390   ENSP00000367281   ENSP00000301774  
    Reactome Protein details: O76090
    Human Recombinant Protein Products for BEST1: 
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    Novus Biologicals BEST1 Proteins
    Novus Biologicals BEST1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BEST1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS17003041
    GO:0005886plasma membrane TAS--
    GO:0016020membrane TAS10737974
    GO:0016021integral to membrane TAS10737974
    GO:0016323basolateral plasma membrane IDA11050159

    BEST1 for ontologies           About GeneDecksing



    BEST1 Antibody Products: 
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    Assay Products for BEST1: 
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    Cloud-Clone Corp. CLIAs for BEST1


    (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 O76090

    ProtoNet protein and cluster: O76090

    1 Blocks protein domain: IPB000615 Putative membrane protein

    UniProtKB/Swiss-Prot: BEST1_HUMAN, O76090
    Similarity: Belongs to the bestrophin family


    BEST1 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: BEST1_HUMAN, O76090
    Function: Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005254contributes to chloride channel activity IDA17003041
         
    BEST1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for BEST1:
     Decreased POU5F1-GFP protein e  Decreased cilium length after   Increased G2M DNA content  Increased circadian rhythm amp 
     Increased number of mitotic ce 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Best1):
     pigmentation  vision/eye 

    BEST1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Best1tm1Lmar for BEST1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BEST1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BEST1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BEST1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BEST1 

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    hsa-miR-542-3p hsa-miR-4302
    SwitchGear 3'UTR luciferase reporter plasmidBEST1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEST1


    (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 BEST1 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 BEST1
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport



    BEST1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BEST1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for BEST1 (O760903 ENSP000003017744) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP2R5AQ151723, ENSP000002614614I2D: score=1 STRING: ENSP00000261461
    PPP2CAP677753, ENSP000004184474I2D: score=1 STRING: ENSP00000418447
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006821chloride transport IDA17003041
    GO:0007601visual perception TAS9662395
    GO:0030321transepithelial chloride transport IDA17003041
    GO:0034220ion transmembrane transport TAS--
    GO:0050908detection of light stimulus involved in visual perception IEA--

    BEST1 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

    BEST1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BEST1

    3 HMDB Compounds for BEST1    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--

    4 Novoseek inferred chemical compound relationships for BEST1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 66 18 12565808 (1), 19635817 (1), 20238019 (1), 15627199 (1) (see all 15)
    phenylalanine 17 1 15218265 (1)
    calcium 15.5 11 12939260 (4), 19262692 (3), 11904445 (1), 18945938 (1) (see all 5)
    vegf 0 2 15389527 (1), 16971894 (1)

    Search CenterWatch for drugs/clinical trials and news about BEST1

    (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 BEST1 gene (2 alternative transcripts): 
    NM_001139443.1  NM_004183.3  

    Unigene Cluster for BEST1:

    Bestrophin 1
    Hs.712676  [show with all ESTs]
    Unigene Representative Sequence: NM_001139443
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378043(uc010rlq.1 uc001nss.3 uc009ynt.3 uc010rlt.2)
    ENST00000534553 ENST00000529265(uc010rlp.2) ENST00000533521 ENST00000524877(uc001nsq.3 uc010rlu.1)
    ENST00000524926 ENST00000449131(uc001nsr.2 uc010rlv.2) ENST00000526988
    ENST00000435278 ENST00000378042(uc010rlr.1 uc001nst.3) ENST00000301774(uc010rls.1)

    miRNA
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    hsa-miR-542-3p hsa-miR-4302
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    Additional mRNA sequence: 

    AF057169.1 AF073501.1 AK289681.1 AK293701.1 AK294577.1 AK295450.1 AK295580.1 AK295838.1 
    AK295998.1 AK298747.1 AK301392.1 AK309076.1 AY515704.1 BC015220.2 BC041664.1 JQ954696.1 

    15 DOTS entries:

    DT.91694190  DT.40114537  DT.100060591  DT.100739421  DT.98132026  DT.100736690  DT.120688917  DT.100736743 
    DT.100754843  DT.95269245  DT.95365175  DT.97809213  DT.120689070  DT.91653521  DT.91692924 

    24/86 AceView cDNA sequences (see all 86):

    CA397980 BC041664 BM707813 CA389968 BM707649 BQ185946 BC015220 CD518675 
    AY515704 AF057169 AF073501 CA395098 BQ184248 NM_004183 AF057170 BU733312 
    N25339 N31453 BE385296 BX100235 AA307119 AI208843 BU731149 BM707948 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for BEST1 (see all 6)    About this scheme

    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:                          -     -     -     -     -     -     -     -     -     -                                       


    ECgene alternative splicing isoforms for BEST1

    (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

    BEST1 expression in normal human tissues (normalized intensities)      BEST1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTACAACA
    BEST1 Expression
    About this image


    BEST1 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
     
     Eye (Sensory Organs)    fully expand to see all 5 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Retinal pigmented epithelium cells ( Direct differentiation of human embryonic stem...
     
     Blood (Hematopoietic System)
             neutrophils   
     
     Testis (Reproductive System)

     -- (Nervous System)
             nodose nucleus   

    See BEST1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BEST1

    SOURCE GeneReport for Unigene cluster: Hs.712676

    UniProtKB/Swiss-Prot: BEST1_HUMAN, O76090
    Tissue specificity: Predominantly expressed in the basolateral membrane of the retinal pigment epithelium

        SABiosciences Expression via Pathway-Focused PCR Array including BEST1: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BEST1

    (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 BEST1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Best11 , 5 bestrophin 11, 5 77.01(n)1
    70.45(a)1
      19 (6.24 cM)5
    241151  NM_011913.21  NP_036043.21 
     99851745 
    chicken
    (Gallus gallus)
    Aves BEST11 bestrophin 1 66.61(n)
    61.7(a)
      423124  XM_421055.2  XP_421055.2 
    lizard
    (Anolis carolinensis)
    Reptilia BEST16
    Uncharacterized protein
    50(a)
    1 ↔ 1
    GL343235.1(2236871-2272751)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5606081 bestrophin-1-like 63.57(n)
    61.78(a)
      560608  XM_684006.5  XP_689098.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Best36
    Best46
    (see all 4)
    Bestrophin 4
    (see all 4)
    29(a)
    29(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    3L(15294015-15295885)
    3L(15292058-15294042)
    worm
    (Caenorhabditis elegans)
    Secernentea best-236
    best-96
    (see all 27)
    Uncharacterized protein C43G2.4
    (see all 27)
    31(a)
    29(a)
    (see all 27)
    many ↔ many
    many ↔ many
    (see all 27)
    II(7904638-7907589)
    IV(6560736-6565267)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BEST1 gene
    BEST22  BEST42  BEST32  
    4 SIMAP similar genes for BEST1 using alignment to 5 protein entries:     BEST1_HUMAN (see all proteins):
    BEST2    NARF    BEST3    BEST4

    BEST1 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

    10/700 SNPs in BEST1 are shown (see all 700)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0173684
    Vitelliform macular dystrophy 2 (VMD2)4--see VAR_0173682 G R mis40--------
    VAR_0173784
    Vitelliform macular dystrophy 2 (VMD2)4--see VAR_0173782 D H mis40--------
    VAR_0257334
    Vitelliform macular dystrophy 2 (VMD2)4--see VAR_0257332 I T mis40--------
    VAR_0008364
    Vitelliform macular dystrophy 2 (VMD2)4--see VAR_0008362 R Q mis40--------
    VAR_0008394
    Vitelliform macular dystrophy 2 (VMD2)4--see VAR_0008392 Q L mis40--------
    VAR_0582744
    Vitreoretinochoroidopathy, autosomal dominant (ADVIRC)4--see VAR_0582742 V M mis40--------
    VAR_0631704
    Retinitis pigmentosa 50 (RP50)4--see VAR_0631702 I T mis40--------
    VAR_0104704
    Vitelliform macular dystrophy 2 (VMD2)4--see VAR_0104702 S F mis40--------
    VAR_0582734
    Vitelliform macular dystrophy 2 (VMD2)4--see VAR_0582732 I T mis40--------
    VAR_0257514
    Vitelliform macular dystrophy 2 (VMD2)4--see VAR_0257512 E G mis40--------

    HapMap Linkage Disequilibrium report for BEST1 (61717293 - 61732987 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BEST1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv897617CNV Loss21882294


    Human Gene Mutation Database (HGMD): BEST1

    Locus Specific Mutation Databases (LSDB): BEST1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing BEST1
    DNA2.0 Custom Variant and Variant Library Synthesis for BEST1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607854   
    OMIM disorders: 153700  608161  611809  193220  613194  
    UniProtKB/Swiss-Prot: BEST1_HUMAN, O76090
  • Vitelliform macular dystrophy 2 (VMD2) [MIM:153700]: VMD2 is 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. 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]: A rare autosomal dominant disorder with
    incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth
    decade of life with a protracted disease of decreased visual acuity. 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. 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/30 diseases for BEST1 (see all 30):    About MalaCards
    vitelliform macular dystrophy    best vitelliform macular dystrophy    bestrophinopathy    vitreoretinochoroidopathy
    adult-onset vitelliform macular dystrophy    best1-related retinitis pigmentosa    retinitis pigmentosa-50    retinitis pigmentosa, concentric
    microcornea, rod-cone dystrophy, cataract, and posterior staphyloma    neurogenic bowel    rhyns syndrome    macular degeneration
    age related macular degeneration    pigmentary retinopathy    fundus dystrophy    leber congenital amaurosis
    retinal degeneration    retinal disease    retinitis    retinitis pigmentosa

    3 diseases from the University of Copenhagen DISEASES database for BEST1:
    Vitelliform macular dystrophy     Bestrophinopathy     Fundus dystrophy

    BEST1 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for BEST1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    macular dystrophy, vitelliform 98.7 69 10682987 (3), 16754206 (3), 11449320 (2), 10854112 (2) (see all 41)
    vitreoretinochoroidopathy 95.2 5 15452077 (1), 15627199 (1), 18309337 (1), 16707793 (1)
    drusen 67.2 4 19421767 (4)
    maculopathy 60.5 6 19421767 (3), 17646752 (2), 10737974 (1)
    retinopathy 57.8 9 10682987 (1), 12565808 (1), 10854112 (1), 15627199 (1) (see all 9)
    retinal degeneration 51.2 5 16707793 (1), 16940553 (1), 18955594 (1), 17968025 (1)
    cystic fibrosis 42.7 5 20100480 (1), 17361457 (1), 16314923 (1), 19237432 (1) (see all 5)

    GeneTests: BEST1
    GeneReviews: BEST1
    Genetic Association Database (GAD): BEST1
    Human Genome Epidemiology (HuGE) Navigator: BEST1 (2 documents)

    Export disorders for BEST1 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 BEST1 gene, integrated from 9 sources (see all 174):
    (articles sorted by number of sources associating them with BEST1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Missense mutations in a retinal pigment epithelium pr otein, bestrophin-1, cause retinitis pigmentosa. (PubMed id 19853238)1, 2, 9 Davidson A.E....Manson F.D. (2009)
    2. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). (PubMed id 15452077)1, 2, 9 Yardley J.... Black G.C.M. (2004)
    3. A novel spontaneous missense mutation in VMD2 gene is a cause of a Best macular dystrophy sporadic case. (PubMed id 10682987)1, 2, 9 Palomba G....Pirastu M. (2000)
    4. Bestrophin Cl- channels are highly permeable to HCO3-. (PubMed id 18400985)1, 2, 9 Qu Z. and Hartzell H.C. (2008)
    5. Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. (PubMed id 11449320)1, 2, 9 Eksandh L.... Andreasson S. (2001)
    6. Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (PubMed id 10798642)1, 2, 9 Lotery A.J....Stone E.M. (2000)
    7. Mutation analysis of the VMD2 gene in thai families with Best macular dystrophy. (PubMed id 18766995)1, 2, 9 Atchaneeyasakul L.O.... Limwongse C. (2008)
    8. Identification of a novel VMD2 mutation in Japanese patients with Best disease. (PubMed id 12187431)1, 2, 9 Yanagi Y.... Mori M. (2002)
    9. Bestrophin 1 enables Ca2+ activated Cl- conductance in epithelia. (PubMed id 17003041)1, 3, 9 Barro Soria R....Kunzelmann K. (2006)
    10. Structure-function analysis of the bestrophin family of anion channels. (PubMed id 12907679)1, 2, 9 Tsunenari T....Nathans J. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 7439 HGNC: 12703 AceView: VMD2 Ensembl:ENSG00000167995 euGenes: HUgn7439
    ECgene: BEST1 H-InvDB: BEST1

    (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 BEST1 Pharmacogenomics, SNPs, Pathways
    VMD2 mutation databasehttp://www-huge.uni-regensburg.de/VMD2_database/index.php?select_db=VMD2
    Mutations of the VMD2 genehttp://www.retina-international.org/sci-news/databases/mutation-database/best1-mutation/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BEST1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BEST1 gene:
    Search GeneIP for patents involving BEST1

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



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    About This Section

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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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