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BTBD9 Gene

protein-coding   GIFtS: 55
GCID: GC06M038136

BTB (POZ) Domain Containing 9

  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)
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Aliases
BTB (POZ) Domain Containing 91 2
KIAA18803 5
BTB/POZ Domain-Containing Protein 92
dJ322I12.12

External Ids:    HGNC: 212281   Entrez Gene: 1147812   Ensembl: ENSG000001838267   OMIM: 6112375   UniProtKB: Q96Q073   

Export aliases for BTBD9 gene to outside databases

Previous GC identifers: GC06M038140 GC06M038189 GC06M038250 GC06M037854


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BTBD9 Gene:
This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein
interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless
Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have
been described. (provided by RefSeq, Aug 2011)

GeneCards Summary for BTBD9 Gene:
BTBD9 (BTB (POZ) domain containing 9) is a protein-coding gene. Diseases associated with BTBD9 include restless legs syndrome, and gilles de la tourette syndrome. An important paralog of this gene is BTBD2.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BTBD9 gene promoter:
         Evi-1   PPAR-gamma1   POU2F1   POU2F1a   POU2F1b   PPAR-gamma2   POU2F1c   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BTBD9 promoter sequence
   Search Chromatin IP Primers for BTBD9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BTBD9


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

Entrez Gene cytogenetic band: 6p21   Ensembl cytogenetic band:  6p21.2   HGNC cytogenetic band: 6p21

BTBD9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTBD9 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M038136:  view genomic region     (about GC identifiers)

Start:
38,136,227 bp from pter      End:
38,607,924 bp from pter
Size:
471,698 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BTBD9_HUMAN, Q96Q07 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein 9  
Size: 612 amino acids; 69188 Da
Sequence caution: Sequence=BAB67773.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q494V9 Q494W1 Q96M00
Alternative splicing: 3 isoforms:  Q96Q07-1   Q96Q07-2   Q96Q07-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BTBD9: NX_Q96Q07

Explore proteomics data for BTBD9 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BTBD9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001092742.1  NP_001165889.1  NP_443125.1  NP_689946.2  

    ENSEMBL proteins: 
     ENSP00000323408   ENSP00000418751   ENSP00000415365   ENSP00000328328   ENSP00000418201  
     ENSP00000419382   ENSP00000386121   ENSP00000386211  

    BTBD9 Human Recombinant Protein Products:

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    Novus Biologicals BTBD9 Proteins
    Novus Biologicals BTBD9 Lysates
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    Cloud-Clone Corp. CLIAs for BTBD9


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BTBD: BTB/POZ domain containing

    Selected InterPro protein domains (see all 6):
     IPR000210 BTB/POZ-like
     IPR008979 Galactose-bd-like
     IPR011333 BTB/POZ_fold
     IPR000421 Coagulation_fac_5/8-C_type_dom
     IPR013069 BTB_POZ

    Graphical View of Domain Structure for InterPro Entry Q96Q07

    ProtoNet protein and cluster: Q96Q07

    3 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB000421 Coagulation factor 5/8 type C domain (FA58C)
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: BTBD9_HUMAN, Q96Q07
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain


    BTBD9 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    BTBD9 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BTBD9:
     Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Btbd9):
     behavior/neurological  homeostasis/metabolism  nervous system 

    BTBD9 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BTBD9
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BTBD9
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BTBD9

    miRNA
    Products:
        
    miRTarBase miRNAs that target BTBD9:
    hsa-mir-30e-5p (MIRT044133), hsa-let-7b-5p (MIRT052172), hsa-mir-335-5p (MIRT017762), hsa-mir-26a-5p (MIRT050162), hsa-mir-149-5p (MIRT045686)

    Block miRNA regulation of human, mouse, rat BTBD9 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BTBD9 (see all 92):
    hsa-miR-124* hsa-miR-549 hsa-miR-579 hsa-miR-4254 hsa-miR-1321 hsa-miR-520e hsa-miR-374a hsa-miR-138-2*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BTBD9

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for BTBD9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): BTBD9 (NM_001099272)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BTBD9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD9

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for BTBD9 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD9


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton2
    cytosol2
    nucleus2

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BTBD9
    Interactions:

        GeneGlobe Interaction Network for BTBD9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for BTBD9 (Q96Q073 ENSP000003861214) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS6Q7L5N13, ENSP000003041024I2D: score=2 STRING: ENSP00000304102
    USP25Q9UHP33, ENSP000002856794I2D: score=2 STRING: ENSP00000285679
    FBXO11Q86XK23, ENSP000003238224I2D: score=5 STRING: ENSP00000323822
    GALNT2Q104713I2D: score=4 
    USP21ENSP000002898654STRING: ENSP00000289865
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007616long-term memory IEA--
    GO:0008344adult locomotory behavior IEA--
    GO:0042428serotonin metabolic process IEA--
    GO:0042748circadian sleep/wake cycle, non-REM sleep IEA--

    BTBD9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BTBD9



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BTBD9 gene (4 alternative transcripts): 
    NM_001099272.1  NM_001172418.1  NM_052893.1  NM_152733.2  

    Unigene Cluster for BTBD9:

    BTB (POZ) domain containing 9
    Hs.603858  [show with all ESTs]
    Unigene Representative Sequence: NM_052893
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000314100(uc010jwv.3 uc003ony.4 uc010jww.3) ENST00000481247(uc003ooa.4 uc010jwx.3)
    ENST00000419706 ENST00000328403 ENST00000497373 ENST00000498633 ENST00000403056
    ENST00000408958
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BTBD9 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BTBD9 (see all 92):
    hsa-miR-124* hsa-miR-549 hsa-miR-579 hsa-miR-4254 hsa-miR-1321 hsa-miR-520e hsa-miR-374a hsa-miR-138-2*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for BTBD9
    Predesigned siRNA for gene silencing in human, mouse, rat BTBD9
    Clone
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    OriGene clones in human, mouse for BTBD9 (see all 19)
    OriGene ORF clones in mouse, rat for BTBD9
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): BTBD9 (NM_001099272)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BTBD9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD9
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for BTBD9
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BTBD9
      QuantiTect SYBR Green Assays in human, mouse, rat BTBD9
      QuantiFast Probe-based Assays in human, mouse, rat BTBD9

    Additional mRNA sequence: 

    AK057507.1 AK090930.1 AK126242.1 AL157476.1 BC035667.1 BC101354.2 BC101355.1 BC101356.2 
    BC101357.1 BX537534.1 

    5 DOTS entries:

    DT.97774578  DT.95197071  DT.212249  DT.100000171  DT.121359443 

    Selected AceView cDNA sequences (see all 80):

    AI474779 N53643 AI824328 AI984662 CR596814 BX279596 CR616810 F10886 
    CB155212 AI732925 AI700921 AL567269 AI197834 BX109492 BC035667 BX377450 
    AI220033 R51295 AA894437 BM976766 BX114302 CB161778 AL157476 BX433156 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for BTBD9    About this scheme

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


    ECgene alternative splicing isoforms for BTBD9

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BTBD9 expression in normal human tissues (normalized intensities)      BTBD9 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGTGAAAA
    BTBD9 Expression
    About this image


    BTBD9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
    BTBD9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BTBD9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.603858

    UniProtKB/Swiss-Prot: BTBD9_HUMAN, Q96Q07
    Tissue specificity: Highly expressed in kidney and moderately expressed in all other adult and fetal tissues.
    Moderately expressed in all specific brain regions examined

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD9

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for BTBD9 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Btbd91 , 5 BTB (POZ) domain containing 91, 5 88.56(n)1
    95.75(a)1
      17 (15.62 cM)5
    2246711  NM_027060.11  NP_081336.11 
     302155245 
    chicken
    (Gallus gallus)
    Aves BTBD91 BTB (POZ) domain containing 9 80.4(n)
    91.53(a)
      421429  NM_001008459.1  NP_001008459.1 
    lizard
    (Anolis carolinensis)
    Reptilia BTBD96
    BTB (POZ) domain containing 9
    92(a)
    1 ↔ 1
    1(229817993-229988698)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BQ396730.12   -- 76.46(n)    BQ396730.1 
    zebrafish
    (Danio rerio)
    Actinopterygii btbd91 BTB (POZ) domain containing 9 65.65(n)
    72.2(a)
      557659  NM_001002198.1  NP_001002198.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BTBD91 BTB (POZ) domain containing 9 ortholog 55.08(n)
    53.33(a)
      32000  NM_001272502.1  NP_001259431.1 
    worm
    (Caenorhabditis elegans)
    Secernentea hpo-91 hpo-9 50.22(n)
    42.69(a)
      179117  NM_072438.4  NP_504839.1 


    ENSEMBL Gene Tree for BTBD9 (if available)
    TreeFam Gene Tree for BTBD9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BTBD9 gene
    BTBD22  BTBD12  BTBD62  BTBD192  BTBD32  
    6 SIMAP similar genes for BTBD9 using alignment to 4 protein entries:     BTBD9_HUMAN (see all proteins):
    KLHL26    KBTBD4    KLHL36    RHOBTB3    KLHL24    KLHL7

    BTBD9 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BTBD9 (see all 9187)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs671222121,2
    C--37857851(+) TCTCA-/AAAAA/AAAAAAAAAA/AAAAA
    AAAAAAAAA
    /AAAAAAAAAAAAAAA
    AAAAA
    20 -- ut31 cds11NA 2
    rs357372431,2
    C,F--37868909(+) TTTTTT/-CCAAT 4 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs1869871101,2
    --37869248(+) ACAGGC/TGTGAG 4 -- int10--------
    rs1928025771,2
    --37869249(+) CAGGTA/GTGAGC 4 -- int10--------
    rs1842693951,2
    --37869250(+) AGGTGG/TGAGCC 4 -- int10--------
    rs345038621,2
    C--37879055(+) AAAAA-/AGTGCG 4 -- int11Minor allele frequency- A:0.50CSA 2
    rs114608341,2
    C--37879735(+) CTGCTG/-GGAAG 4 -- int13Minor allele frequency- -:0.17NA CSA 6
    rs2003463851,2
    --37894477(+) ATTAC-/TGTGTTT 4 -- int10--------
    rs106566461,2
    C--37894479(+) TACTGTGT/-TTTAA 4 -- cds11Minor allele frequency- -:0.50NA 2
    rs559516101,2
    C--37894480(+) ACTGT-/GT    
       T
    /TGT
    TTAAC
    8 -- cds10--------

    HapMap Linkage Disequilibrium report for BTBD9 (38136227 - 38386227 bp, first 250kb of BTBD9)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for BTBD9 (see all 26):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674905CNV Deletion23128226
    esv2731950CNV Deletion23290073
    esv2421878CNV Deletion20811451
    nsv5268CNV Insertion18451855
    esv269996CNV Insertion20981092
    esv267992CNV Insertion20981092
    nsv507325CNV Insertion20534489
    esv27105CNV Loss19812545
    nsv885817CNV Loss21882294
    nsv349297CNV Loss16902084

    Human Gene Mutation Database (HGMD): BTBD9
    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 611237    OMIM disorders: --

    UniProtKB/Swiss-Prot: BTBD9_HUMAN, Q96Q07
  • Restless legs syndrome 6 (RLS6) [MIM:611185]: A neurologic sleep/wake disorder characterized by
    uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an
    irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation.
    The majority of patients also have periodic limb movements in sleep, which are characterized by involuntary,
    highly stereotypical, regularly occurring limb movements that occur during sleep. Note=Disease susceptibility may
    be associated with variations affecting the gene represented in this entry

  • 7 diseases for BTBD9:    About MalaCards
    restless legs syndrome    gilles de la tourette syndrome    essential tremor    tremor
    multiple myeloma    myeloma    malaria

    1 disease from the University of Copenhagen DISEASES database for BTBD9:
    Gilles de la Tourette syndrome

    BTBD9 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BTBD9
    Human Genome Epidemiology (HuGE) Navigator: BTBD9 (6 documents)

    Export disorders for BTBD9 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)
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    PubMed articles for BTBD9 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with BTBD9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A genetic risk factor for periodic limb movements in sleep. (PubMed id 17634447)1, 2, 4 Stefansson H.... Stefansson K. (N. Engl. J. Med. 2007)
    2. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2001)
    3. Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. (PubMed id 21779176)1, 4 Winkelmann J....Meitinger T. (PLoS Genet. 2011)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Association of intronic variants of the BTBD9 gene with Tourette syndrome. (PubMed id 19822783)1, 4 RiviA"re J.B....Rouleau G.A. (Arch. Neurol. 2009)
    6. Replication of restless legs syndrome loci in three European populations. (PubMed id 19279021)1, 4 Kemlink D....Winkelmann J. (J. Med. Genet. 2009)
    7. Exploring the genetic link between RLS and ADHD. (PubMed id 19223043)1, 4 Schimmelmann B.G....Hebebrand J. (J Psychiatr Res 2009)
    8. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. (PubMed id 17637780)1, 4 Winkelmann J....Meitinger T. (Nat. Genet. 2007)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The BTBD9 gene may be associated with antipsychotic-induced restless legs syndrome in schizophrenia. (PubMed id 23361623)1 Kang S.G....Kim L. (Hum Psychopharmacol 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 114781 HGNC: 21228 AceView: BTBD9 Ensembl:ENSG00000183826 euGenes: HUgn114781
    ECgene: BTBD9 H-InvDB: BTBD9

    (According to HUGE)
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    HUGE: KIAA1880

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BTBD9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BTBD9 gene:
    Search GeneIP for patents involving BTBD9

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



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