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

BTBD10 Gene

protein-coding   GIFtS: 50
GCID: GC11M013367

BTB (POZ) Domain Containing 10

  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
BTB (POZ) Domain Containing 101 2     BTB/POZ Domain-Containing Protein 102
GMRP-12     K+ Channel Tetramerization Protein2
GMRP12     KSARCOSIN5
BTB (Broad-Complex Tramtrack And Bric-A-Brac/Pox Virus And Zinc Finger)
Domain-Containing Protein 102
     

External Ids:    HGNC: 214451   Entrez Gene: 842802   Ensembl: ENSG000001489257   OMIM: 6077015   UniProtKB: Q9BSF83   

Export aliases for BTBD10 gene to outside databases

Previous GC identifer: GC11M013089


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

GeneCards Summary for BTBD10 Gene: 
BTBD10 (BTB (POZ) domain containing 10) is a protein-coding gene. Diseases associated with BTBD10 include long qt syndrome, and lateral sclerosis. An important paralog of this gene is KCTD20.


(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_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BTBD10 gene promoter:
         Nkx3-1   Nkx3-1 v4   MAZR   Nkx3-1 v1   GATA-2   GATA-1   MEF-2A   Nkx3-1 v2   Nkx3-1 v3   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBTBD10 promoter sequence
   Search SABiosciences Chromatin IP Primers for BTBD10

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTBD10


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

Entrez Gene cytogenetic band: 11p15.2   Ensembl cytogenetic band:  11p15.2   HGNC cytogenetic band: 11p15.2

BTBD10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTBD10 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M013367:  view genomic region     (about GC identifiers)

Start:
13,409,548 bp from pter      End:
13,484,844 bp from pter
Size:
75,297 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: BTBDA_HUMAN, Q9BSF8 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein 10  
Size: 475 amino acids; 53779 Da
Subcellular location: Nucleus
Secondary accessions: Q86WG1

Explore the universe of human proteins at neXtProt for BTBD10: NX_Q9BSF8

Explore proteomics data for BTBD10 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BSF8

  • BTBD10 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BTBD10 Protein Expression
    REFSEQ proteins: NP_115696.2  
    ENSEMBL proteins: 
     ENSP00000278174   ENSP00000435303   ENSP00000431186   ENSP00000435257   ENSP00000434857  
     ENSP00000434579   ENSP00000431572  

    Human Recombinant Protein Products for BTBD10: 
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    Novus Biologicals BTBD10 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BTBD10 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    BTBD10 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for BTBD10 
    Cloud-Clone Corp. CLIAs for BTBD10


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

    2 InterPro protein domains:
     IPR011333 BTB/POZ_fold
     IPR000210 BTB/POZ-like

    Graphical View of Domain Structure for InterPro Entry Q9BSF8

    ProtoNet protein and cluster: Q9BSF8

    1 Blocks protein domain: IPB000210 BTB/POZ domain

    UniProtKB/Swiss-Prot: BTBDA_HUMAN, Q9BSF8
    Similarity: Contains 1 BTB (POZ) domain


    BTBD10 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    BTBD10 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for BTBD10 
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    miRNA
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    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate BTBD10 (see all 24):
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    SwitchGear 3'UTR luciferase reporter plasmidBTBD10 3' UTR sequence
    Inhib. RNA
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    Clone
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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BTBD10

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

    5/28 Interacting proteins for BTBD10 (Q9BSF82, 3 ENSP000002781744) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG5Q8TDM62, 3MINT-65326 I2D: score=5 
    ACIN1Q9UKV32, 3MINT-65328 I2D: score=4 
    CDC37Q165432, 3MINT-8250789 I2D: score=2 
    MAPK3P273612, 3, ENSP000002630254MINT-8260559 I2D: score=2 STRING: ENSP00000263025
    LAMA5O152303, ENSP000002529994I2D: score=3 STRING: ENSP00000252999
    About this table

    (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

    BTBD10 for compounds           About GeneDecksing

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

    Browse Tocris compounds for BTBD10 (BTBDA)

    3 Novoseek inferred chemical compound relationships for BTBD10 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 53.9 1 18947437 (1)
    calcium 0 3 8569066 (2), 9582078 (1)
    tyrosine 0 2 7929599 (1), 8702786 (1)

    Search CenterWatch for drugs/clinical trials and news about BTBD10 / BTBDA

    (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 BTBD10 gene: 
    NM_032320.5  

    Unigene Cluster for BTBD10:

    BTB (POZ) domain containing 10
    Hs.332382  [show with all ESTs]
    Unigene Representative Sequence: AY221959
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000278174(uc010rcl.2 uc001mkz.3 uc009ygn.3 uc010rcm.2)
    ENST00000527102 ENST00000530907 ENST00000528120 ENST00000525864(uc010rcn.2 uc009ygo.3)
    ENST00000525661 ENST00000525108 ENST00000532261 ENST00000529708 ENST00000526841
    ENST00000527858
    miRNA
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    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate BTBD10 (see all 24):
    hsa-miR-142-5p hsa-miR-30c hsa-miR-106a hsa-miR-30d hsa-miR-340 hsa-miR-9 hsa-miR-30a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidBTBD10 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Primer
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    OriGene qPCR primer pairs and template standards for BTBD10
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BTBD10
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BTBD10

    Additional mRNA sequence: 

    AF329102.2 AK095946.1 AK292392.1 AK294259.1 AK294768.1 AK298226.1 AK310935.1 AK316163.1 
    AL832981.1 AY221959.2 BC005071.1 BC017072.1 BC062633.1 

    14 DOTS entries:

    DT.116960  DT.95171604  DT.95171596  DT.120684700  DT.101970153  DT.40107956  DT.120684683  DT.91798002 
    DT.95188646  DT.100798652  DT.120684706  DT.91753515  DT.100644109  DT.99956565 

    24/184 AceView cDNA sequences (see all 184):

    BC005071 CD108229 BQ212428 AA366477 AA988000 Z39002 AI653990 AI276909 
    AK095946 AA866042 AI277280 BM754654 AA397688 AA207052 CB265710 BE295419 
    W51750 AI929806 BQ771830 BM977656 AI246323 BM751340 R43398 CA429537 

    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

    BTBD10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGGAGTGT
    BTBD10 Expression
    About this image


    See BTBD10 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BTBD10

    SOURCE GeneReport for Unigene cluster: Hs.332382

    UniProtKB/Swiss-Prot: BTBDA_HUMAN, Q9BSF8
    Tissue specificity: Ubiquitously expressed. Highly expressed in adult brain, testis and small intestine and weakly
    expressed in the heart, lung, liver, kidney, pancreas, spleen, thymus, prostate, ovary and colon. Down-regulated
    in glioma

        SABiosciences Custom PCR Arrays for BTBD10
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD10

    (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 eukaryotes.

    Orthologs for BTBD10 gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Btbd101 , 5 BTB (POZ) domain containing 101, 5 92.07(n)1
    97.26(a)1
      7 (59.18 cM)5
    688151  NM_133700.21  NP_598461.11 
     1133156265 
    chicken
    (Gallus gallus)
    Aves BTBD101 BTB (POZ) domain containing 10 83.07(n)
    94.78(a)
      423029  NM_001199575.1  NP_001186504.1 
    lizard
    (Anolis carolinensis)
    Reptilia BTBD106
    Uncharacterized protein
    88(a)
    1 ↔ 1
    GL343237.1(1481338-1511497)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.41912 Xenopus laevis transcribed sequence with moderate similarity more 82.45(n)    CA986052.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa12a082 wufa12a08 79.96(n)   335028  57041395 
    fruit fly
    (Drosophila melanogaster)
    Insecta mri1 mrityu 63.82(n)
    67.26(a)
      38028  NM_167801.2  NP_728484.1 
    worm
    (Caenorhabditis elegans)
    Secernentea btbd-101 Protein BTBD-10 52.4(n)
    50.47(a)
      173847  NM_170983.3  NP_740981.1 
    rice
    (Oryza sativa)
    Liliopsida BI805536.12   -- 91.43(n)    BI805536.1 


    ENSEMBL Gene Tree for BTBD10 (if available)
    TreeFam Gene Tree for BTBD10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BTBD10 gene
    KCTD202  
    1 SIMAP similar gene for BTBD10 using alignment to 10 protein entries:     BTBDA_HUMAN (see all proteins):
    KCTD20

    BTBD10 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for BTBD10
    PGOHUM00000257949 PGOHUM00000243813


    (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

    10/1333 SNPs in BTBD10 are shown (see all 1333)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2020181571,2
    --13409401(+) ATAAA-/TATTGTTT 1 -- int10--------
    rs1136888321,2
    F--13409476(+) TCCTTG/TAGCTA 1 -- int12Minor allele frequency- T:0.50CSA 4
    rs110227841,2
    C,F,A--13409501(+) ACTTAC/TACCAC 1 -- int19Minor allele frequency- T:0.17NA WA EA 506
    rs563154071,2
    C--13409591(+) TATTTC/TGATGA 1 -- ut310--------
    rs1505661511,2
    C--13409792(+) GCTCTA/GGAGAT 1 -- ut310--------
    rs10444321,2
    C,F,H--13409798(-) TCAGTT/AATCTC 1 -- ut3126Minor allele frequency- A:0.14MN NS EA NA WA 2606
    rs10444311,2
    C,F,O,H--13409843(-) TATCTG/AAATGA 1 -- ut3128Minor allele frequency- A:0.14MN NS EA NA WA 3098
    rs1905436461,2
    --13409846(+) TTCAGA/GTAAGC 1 -- ut310--------
    rs1386077871,2
    --13409925(+) CAGAAA/GCACTT 1 -- ut310--------
    rs1823801181,2
    --13410245(+) AAAAAA/GGCCTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for BTBD10 (13409548 - 13484844 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for BTBD10: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing BTBD10
    DNA2.0 Custom Variant and Variant Library Synthesis for BTBD10

    (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: 607701    OMIM disorders: --

    6 diseases for BTBD10:    About MalaCards
    long qt syndrome    lateral sclerosis    amyotrophic lateral sclerosis    pancreatitis
    neuronitis    prostatitis


    BTBD10 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BTBD10
    Human Genome Epidemiology (HuGE) Navigator: BTBD10 (1 document)

    Export disorders for BTBD10 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 BTBD10 gene, integrated from 9 sources (see all 51):
    (articles sorted by number of sources associating them with BTBD10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a novel human BTB domain- containing gene, BTBD10, which is down-regulated in glioma. (PubMed id 15556295)1, 2, 3, 9 Chen J.... Lu Y. (2004)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. 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)
    4. Protein phosphatase 1g isoforms linked interactions in the brain. (PubMed id 23080069)1 Esteves S.L....da Cruz e Silva E.F. (2013)
    5. Protein phosphatase 1a interacting proteins in the hum an brain. (PubMed id 22321011)1 Esteves S.L....da Cruz e Silva E.F. (2012)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    7. Reduced expression of BTBD10, an Akt activator, leads to motor neuron death. (PubMed id 22388351)1 Nawa M....Matsuoka M. (2012)
    8. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    9. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84280 HGNC: 21445 AceView: GMRP-1 Ensembl:ENSG00000148925 euGenes: HUgn84280
    ECgene: BTBD10 H-InvDB: BTBD10

    (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 BTBD10 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 BTBD10 gene:
    Search GeneIP for patents involving BTBD10

    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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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