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BTBD6 Gene

protein-coding   GIFtS: 42
GCID: GC14P105715

BTB (POZ) Domain Containing 6

  See related disease
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 61 2
Lens BTB Domain Protein2 3
BDPL2 3
BTB Domain Protein BDPL2
BTB/POZ Domain-Containing Protein 62
Glucocorticoid Receptor AF-1 Coactivator-12

External Ids:    HGNC: 198971   Entrez Gene: 901352   Ensembl: ENSG000001848877   UniProtKB: Q96KE93   

Export aliases for BTBD6 gene to outside databases

Previous GC identifers: GC14U900160 GC14P103686 GC14P104786 GC14P085912


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BTBD6 Gene:
BTBD6 (BTB (POZ) domain containing 6) is a protein-coding gene. Diseases associated with BTBD6 include neuronitis. An important paralog of this gene is BTBD2.

UniProtKB/Swiss-Prot: BTBD6_HUMAN, Q96KE9
Function: Adapter protein for the CUL3 E3 ubiquitin-protein ligase complex. Involved in late neuronal development
and muscle formation (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BTBD6 gene promoter:
         c-Fos   TBP   ISGF-3   C/EBPbeta   AP-1   TFIID   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BTBD6 promoter sequence
   Search Chromatin IP Primers for BTBD6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BTBD6


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

Entrez Gene cytogenetic band: 14q32   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.33

BTBD6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTBD6 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P105715:  view genomic region     (about GC identifiers)

Start:
105,714,827 bp from pter      End:
105,717,430 bp from pter
Size:
2,604 bases      Orientation:
plus 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: BTBD6_HUMAN, Q96KE9 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein 6  
Size: 485 amino acids; 53411 Da
Sequence caution: Sequence=AAK39520.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for BTBD6:
2VKP (3D)    
Secondary accessions: Q8IVQ7 Q9BR94
Alternative splicing: 2 isoforms:  Q96KE9-1   Q96KE9-2   

Explore the universe of human proteins at neXtProt for BTBD6: NX_Q96KE9

Explore proteomics data for BTBD6 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BTBD6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_150374.2  
    ENSEMBL proteins: 
     ENSP00000446223   ENSP00000376337   ENSP00000418150   ENSP00000443091   ENSP00000329361  

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    (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

    5 InterPro protein domains:
     IPR012983 PHR
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ
     IPR011705 BACK

    Graphical View of Domain Structure for InterPro Entry Q96KE9

    ProtoNet protein and cluster: Q96KE9

    2 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB012983 PHR


    UniProtKB/Swiss-Prot: BTBD6_HUMAN, Q96KE9
    Similarity: Contains 1 BTB (POZ) domain


    BTBD6 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BTBD6_HUMAN, Q96KE9
    Function: Adapter protein for the CUL3 E3 ubiquitin-protein ligase complex. Involved in late neuronal development
    and muscle formation (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    BTBD6 for ontologies           About GeneDecksing


    Animal Models:
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    (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 UniProtKB/Swiss-Prot
    BTBD6_HUMAN, Q96KE9: Cytoplasm, P-body (By similarity). Note=Cytoplasmic bodies (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000932cytoplasmic mRNA processing body IEA--

    BTBD6 for ontologies           About GeneDecksing


    (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 BTBD6
    Interactions:

        Search GeneGlobe Interaction Network for BTBD6

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

    2 Interacting proteins for BTBD6 (ENSP000003293614) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DAXXENSP000002660004STRING: ENSP00000266000
    ZBTB16ENSP000003381574STRING: ENSP00000338157
    About this table

    (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 BTBD6



    (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 BTBD6 gene: 
    NM_033271.2  

    Unigene Cluster for BTBD6:

    BTB (POZ) domain containing 6
    Hs.7367  [show with all ESTs]
    Unigene Representative Sequence: NM_033271
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000537513 ENST00000392554(uc010tyq.2) ENST00000463376 ENST00000392553
    ENST00000536364 ENST00000327471
    miRNA
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    GenScript: all cDNA clones in your preferred vector: BTBD6 (NM_152903)
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat BTBD6

    Additional mRNA sequence: 

    AF086420.1 AF353674.1 BC006414.1 BC042525.1 

    8 DOTS entries:

    DT.443986  DT.91785381  DT.100644084  DT.91920755  DT.100644085  DT.75189946  DT.100789163  DT.95273817 

    Selected AceView cDNA sequences (see all 87):

    W88594 BU730253 AI553977 BM700130 AI758641 AA993708 BM977956 BM711637 
    BM670994 T33693 BE857201 CN480310 F25178 CB243619 CB132544 BC006414 
    T23988 T08942 AL044040 AI380621 AI961535 AA838686 BM693745 AA613730 

    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™, 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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    BTBD6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCACCTGCTT
    BTBD6 Expression
    About this image

    BTBD6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BTBD6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.7367

    UniProtKB/Swiss-Prot: BTBD6_HUMAN, Q96KE9
    Tissue specificity: Expressed in lens

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BTBD6

    (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 BTBD6 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Btbd61 , 5 BTB (POZ) domain containing 61, 5 86.65(n)1
    95.14(a)1
      12 (61.50 cM)5
    3995661  NM_201646.21  NP_964008.21 
     1129764825 
    chicken
    (Gallus gallus)
    Aves BTBD61 BTB (POZ) domain containing 6 83.14(n)
    92.18(a)
      101752037  XM_004936422.1  XP_004936479.1 
    lizard
    (Anolis carolinensis)
    Reptilia BTBD66
    BTB (POZ) domain containing 6
    86(a)
    1 ↔ 1
    1(1220972-1229641)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia btbd61 BTB (POZ) domain containing 6 77.01(n)
    89.89(a)
      779763  NM_001078842.2  NP_001072310.2 
    zebrafish
    (Danio rerio)
    Actinopterygii btbd6b1 BTB (POZ) domain containing 6b 76.04(n)
    87.33(a)
      553533  NM_001024815.2  NP_001019986.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta lute6
    lute
    41(a)
    1 → many
    3R(13205666-13215987)


    ENSEMBL Gene Tree for BTBD6 (if available)
    TreeFam Gene Tree for BTBD6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BTBD6 gene
    BTBD22  BTBD12  BTBD192  BTBD32  BTBD92  
    4 SIMAP similar genes for BTBD6 using alignment to 2 protein entries:     BTBD6_HUMAN (see all proteins):
    DKFZp434B055    BTBD3    BTBD1    BTBD2

    BTBD6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BTBD6
    PGOHUM00000243933


    (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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    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for BTBD6 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv2031n71CNV Loss21882294
    dgv2020n71CNV Loss21882294
    dgv2024n71CNV Loss21882294
    dgv2025n71CNV Loss21882294
    dgv26n68CNV Loss17160897
    esv29986CNV Loss17803354
    nsv902424CNV Loss21882294
    nsv470679CNV Loss18288195
    nsv510651CNV Loss20534489
    dgv2030n71CNV Loss21882294

    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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    1 disease for BTBD6:    About MalaCards
    neuronitis


    BTBD6 for disorders           About GeneDecksing


    Export disorders for BTBD6 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 BTBD6 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with BTBD6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Genome Res. 2004)
    2. Expressed sequence tag analysis of adult human lens for the NEIBank project: over 2000 non-redundant transcripts, novel genes and splice variants. (PubMed id 12107413)1, 2 Wistow G.... Peterson K. (Mol. Vis. 2002)
    3. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    4. FTH1 binds to Daxx and inhibits Daxx-mediated cell apoptosis. (PubMed id 21573799)1 Liu F....Wang Y.X. (Mol. Biol. Rep. 2012)
    5. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    6. A feedback loop mediated by degradation of an inhibitor is required to initiate neuronal differentiation. (PubMed id 20080956)1 Sobieszczuk D.F....Wilkinson D.G. (amp 2010)
    7. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (Nature 2006)
    8. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (Nature 2003)
    9. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (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: 90135 HGNC: 19897 AceView: BTBD6 Ensembl:ENSG00000184887 euGenes: HUgn90135
    ECgene: BTBD6 H-InvDB: BTBD6

    (According to HUGE)
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      --

    (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 BTBD6 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 BTBD6 gene:
    Search GeneIP for patents involving BTBD6

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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