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

BTBD7 Gene

protein-coding   GIFtS: 44
GCID: GC14M093703

BTB (POZ) domain containing 7

 Explore 3 diseases affiliated with
BTBD7 via our new
 Human Malady Compendium 
Biological research products
for BTBD7
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
BTB (POZ) Domain Containing 71 2
FUP11 2 5
FLJ106481
BTB/POZ Domain-Containing Protein 72
KIAA15253

External Ids:    HGNC: 182691   Entrez Gene: 557272   Ensembl: ENSG000000111147   OMIM: 6103865   UniProtKB: Q9P2033   

Export aliases for BTBD7 gene to outside databases

Previous GC identifers: GC14M091697 GC14M092776 GC14U900579 GC14M073884


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BTBD7 gene promoter:
         TBP   Spz1   Sp1   LUN-1   GATA-1   MEF-2A   HSF2   aMEF-2   TGIF   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBTBD7 promoter sequence
   Search SABiosciences Chromatin IP Primers for BTBD7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTBD7


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

Entrez Gene cytogenetic band: 14q32.12   Ensembl cytogenetic band:  14q32.12   HGNC cytogenetic band: 14q32.13

BTBD7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTBD7 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M093703:  view genomic region     (about GC identifiers)

Start:
93,703,896 bp from pter      End:
93,799,438 bp from pter
Size:
95,543 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BTBD7_HUMAN, Q9P203 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein 7  
Size: 1132 amino acids; 126368 Da
Sequence caution: Sequence=BAA96049.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB13946.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB13946.1;
Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=CAH10736.1; Type=Miscellaneous discrepancy;
Note=Probable cloning artifact;
Secondary accessions: A8K5V7 Q69Z05 Q7Z308 Q86TS0 Q9HAA4 Q9NVM0
Alternative splicing: 3 isoforms:  Q9P203-1   Q9P203-3   Q9P203-5   

Explore the universe of human proteins at neXtProt for BTBD7: NX_Q9P203

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9P203

  • BTBD7 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001002860.2  NP_060637.1  

    ENSEMBL proteins: 
     ENSP00000347246   ENSP00000335615   ENSP00000451010   ENSP00000450778   ENSP00000298896  
     ENSP00000451408   ENSP00000450704   ENSP00000376874  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BTBD7 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ
     IPR011705 BACK
     IPR000210 BTB/POZ-like

    Graphical View of Domain Structure for InterPro Entry Q9P203

    ProtoNet protein and cluster: Q9P203

    1 Blocks protein family: IPB000210 BTB/POZ domain

    UniProtKB/Swiss-Prot: BTBD7_HUMAN, Q9P203
    Similarity: Contains 2 BTB (POZ) domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-194* hsa-miR-140-5p hsa-miR-106a hsa-miR-3653 hsa-miR-138-2* hsa-miR-342-3p hsa-miR-519a hsa-miR-130b
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD7

    2 GenomeRNAi human phenotypes for BTBD7:
     Increased cell death HMECs cel  Increased homologous recombina 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BTBD7

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for BTBD7 (ENSP000003356154) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 BTBD7
    Search CenterWatch for drugs/clinical trials and news about BTBD7 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BTBD7 gene (2 alternative transcripts): 
    NM_001002860.2  NM_018167.3  

    Unigene Cluster for BTBD7:

    BTB (POZ) domain containing 7
    Hs.525549  [show with all ESTs]
    Unigene Representative Sequence: NM_001002860
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355125 ENST00000334746(uc010aur.3 uc010two.2 uc001ybo.3 uc001ybp.3)
    ENST00000554565 ENST00000553975 ENST00000554644(uc001ybq.4) ENST00000298896(uc001ybr.3)
    ENST00000555525 ENST00000554968 ENST00000393170

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    8/155 QIAGEN miScript miRNA Assays for microRNAs that regulate BTBD7 (see all 155):
    hsa-miR-194* hsa-miR-140-5p hsa-miR-106a hsa-miR-3653 hsa-miR-138-2* hsa-miR-342-3p hsa-miR-519a hsa-miR-130b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BTBD7 (see all 6)
    OriGene shRNA RFP: BTBD7
    OriGene siRNA: BTBD7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BTBD7
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BTBD7 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BTBD7 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): BTBD7 (NM_018167)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BTBD7 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BTBD7
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BTBD7

    Additional cDNA sequence: 

    AB040958.2 AK001510.1 AK021953.1 AK074354.1 AK091287.1 AK291422.1 AK303355.1 AL049394.1 
    BC047071.1 BC141850.1 BX248762.1 BX538231.1 

    8 DOTS entries:

    DT.87046440  DT.312854  DT.95132183  DT.100683906  DT.91925100  DT.95102325  DT.100647641  DT.75104034 

    GeneLoc Exon Structure


    (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

    BTBD7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCGAAACTCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See BTBD7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BTBD7

    SOURCE GeneReport for Unigene cluster: Hs.525549
        SABiosciences Custom PCR Arrays for BTBD7
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD7

    (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 BTBD7 gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Btbd71 , 5 BTB (POZ) domain containing 71, 5 90.6(n)1
    93.97(a)1
      12 (52.25 cM)5
    2383861  NM_172806.21  NP_766394.21 
     1027846565 
    chicken
    (Gallus gallus)
    Aves BTBD71 BTB (POZ) domain containing 7 82.13(n)
    88.94(a)
      423424  XM_421333.3  XP_421333.2 
    lizard
    (Anolis carolinensis)
    Reptilia BTBD76
    --
    87(a)
    1 ↔ 1
    1(10835327-10891364)
    zebrafish
    (Danio rerio)
    Actinopterygii btbd71 BTB (POZ) domain containing 7 67.23(n)
    73.58(a)
      568372  NM_001025551.1  NP_001020722.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG169521 CG16952 49.39(n)
    44.95(a)
      32546  NM_001169293.1  NP_001162764.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C39F7.51 Protein C39F7.5 43.43(n)
    28.22(a)
      178621  NM_070997.3  NP_503398.1 


    ENSEMBL Gene Tree for BTBD7 (if available)
    TreeFam Gene Tree for BTBD7 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BTBD7 gene

    BTBD7 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for BTBD7
    PGOHUM00000238354 PGOHUM00000238923


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1745 NCBI SNPs in BTBD7 are shown (see all 1745    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs112907861,2
    C--93703398(+) TTGCGT/-TTTTT 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs619917361,2
    --93703572(+) GTTCAA/C/TGTGGG 1 -- ds50011NA 2
    rs1831554531,2
    --93703602(+) CAATCA/CTGAAG 1 -- ds50010--------
    rs1452095081,2
    --93703629(+) CTTTCC/TGCTCA 1 -- ds50010--------
    rs1426222081,2
    --93703723(+) ATTTCC/TGAGAA 1 -- ds50010--------
    rs1881841051,2
    --93703811(+) TCCCAA/GTTCTA 1 -- ds50010--------
    rs764793251,2
    --93703819(+) CTACCC/ATCCAG 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs101479901,2
    C,F,H,--93703854(+) AGACTA/GTATGC 1 -- ds500125Minor allele frequency- G:0.36NA NS EA WA CSA 2484
    rs1469153191,2
    --93704034(+) TGTATC/TGTTTT 1 -- ut310--------
    rs1917827261,2
    C,--93704174(+) GAAAAA/CACTTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for BTBD7 (93703896 - 93799438 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for BTBD7
         2 Indels: 66696 58699

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BTBD7 for disorders           About GeneDecksing

    OMIM gene information: 610386    OMIM disorders: --

    3 diseases for BTBD7:    About MalaCards
    hepatocellular carcinoma    carcinoma    malaria


    Export disorders for BTBD7 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 BTBD7 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with BTBD7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (2000)
    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. FUP1, a gene associated with hepatocellular carcinoma , stimulates NIH3T3 cell proliferation and tumor formation in nude mice. (PubMed id 11527404)1, 3 Pan W....Li T.P. (2001)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Strategy for comprehensive identification of human N-myristoylated proteins using an insect cell-free protein synthesis system. (PubMed id 20213681)2 Suzuki T.... Utsumi T. (2010)
    7. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (2003)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 55727 HGNC: 18269 Ensembl:ENSG00000011114 euGenes: HUgn55727 ECgene: BTBD7
    H-InvDB: BTBD7

    (According to HUGE)
    About This Section
    HUGE: KIAA1525

    (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 BTBD7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BTBD7 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BTBD7 gene:
    Search GeneIP for patents involving BTBD7

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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