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BTBD16 Gene

protein-coding   GIFtS: 44
GCID: GC10P124022

BTB (POZ) Domain Containing 16

(Previous name: chromosome 10 open reading frame 87)
(Previous symbol: C10orf87)
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(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 161 2
C10orf871 2 3
Chromosome 10 Open Reading Frame 871
BTB/POZ Domain-Containing Protein 162

External Ids:    HGNC: 263401   Entrez Gene: 1186632   Ensembl: ENSG000001381527   UniProtKB: Q32M843   

Export aliases for BTBD16 gene to outside databases

Previous GC identifer: GC10P117661


(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 BTBD16 Gene:
BTBD16 (BTB (POZ) domain containing 16) is a protein-coding gene. An important paralog of this gene is GMCL1.


(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 at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BTBD16 gene promoter:
         C/EBPbeta   Nkx2-2   Brachyury   HNF-1A   PPAR-alpha   SRY   HNF-1   Cart-1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBTBD16 promoter sequence
   Search Chromatin IP Primers for BTBD16

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BTBD16


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

Entrez Gene cytogenetic band: 10q26.13   Ensembl cytogenetic band:  10q26.13   HGNC cytogenetic band: 10q26.13

BTBD16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTBD16 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P124022:  view genomic region     (about GC identifiers)

Start:
124,030,821 bp from pter      End:
124,097,677 bp from pter
Size:
66,857 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BTBDG_HUMAN, Q32M84 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein 16  
Size: 506 amino acids; 58481 Da
Secondary accessions: A6NM63 Q4VXL1 Q96LN0
Alternative splicing: 2 isoforms:  Q32M84-1   Q32M84-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BTBD16: NX_Q32M84

Explore proteomics data for BTBD16 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BTBD16 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_653188.2  
    ENSEMBL proteins: 
     ENSP00000260723   ENSP00000357990  

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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

    1 InterPro protein domain:
     IPR011333 BTB/POZ_fold

    Graphical View of Domain Structure for InterPro Entry Q32M84

    ProtoNet protein and cluster: Q32M84

    UniProtKB/Swiss-Prot: BTBDG_HUMAN, Q32M84
    Similarity: Contains 1 BTB (POZ) domain


    Find genes that share domains with BTBD16           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for BTBD16:
     High actin ratio cells 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for BTBD16

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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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus2
    cytosol1
    mitochondrion1
    peroxisome1

    (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 BTBD16
    Interactions:

        Search GeneGlobe Interaction Network for BTBD16

    (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 BTBD16 (BTBDG)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BTBD16 gene: 
    NM_144587.2  

    Unigene Cluster for BTBD16:

    BTB (POZ) domain containing 16
    Hs.422466  [show with all ESTs]
    Unigene Representative Sequence: AK058088
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260723(uc001lgc.1) ENST00000507495 ENST00000495370 ENST00000368994(uc001lgd.1)

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    hsa-miR-875-3p hsa-miR-1299
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    Additional mRNA sequence: 

    AK058088.1 BC109261.1 BC109262.1 

    2 DOTS entries:

    DT.105971  DT.95338595 

    11 AceView cDNA sequences:

    NM_144587 AK058088 W60286 BG621248 BX118308 BV203417 AA566077 AA926746 
    W60377 AW628503 BE866691 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for BTBD16    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
    SP1:                                                                                                            
    SP2:                                                                                                            


    ECgene alternative splicing isoforms for BTBD16

    (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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    BTBD16 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGAGAATAA
    BTBD16 Expression
    About this image

    BTBD16 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BTBD16 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.422466
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    In Situ
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    (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 BTBD16 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Btbd161 , 5 BTB (POZ) domain containing 161, 5 79.02(n)1
    70.34(a)1
      7 (73.19 cM)5
    3306601  NM_001081038.21  NP_001074507.21 
     1307740695 
    lizard
    (Anolis carolinensis)
    Reptilia BTBD166
    BTB (POZ) domain containing 16
    44(a)
    1 ↔ 1
    3(64027501-64101264)
    zebrafish
    (Danio rerio)
    Actinopterygii btbd161 BTB (POZ) domain containing 16 48.75(n)
    37.38(a)
      565632  XM_703976.4  XP_709068.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta gcl6
    germ cell-less
    14(a)
    1 → many
    2R(4611765-4616509)
    worm
    (Caenorhabditis elegans)
    Secernentea gcl-16
    Protein GCL-1 (gcl-1) mRNA, complete cds
    13(a)
    1 → many
    IV(13408443-13412895) WBGene00013382


    ENSEMBL Gene Tree for BTBD16 (if available)
    TreeFam Gene Tree for BTBD16 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BTBD16 gene
    GMCL12  

    Find genes that share paralogs with BTBD16           About GenesLikeMe



    (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 BTBD16 (see all 1509)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs361256291,2
    C--117667528(+) TTTTT-/T/TT  
            
    ACAAT
    1 -- int11NA 2
    rs1497175201,2
    C--124028833(+) AGAGG-/CCCTGC 1 -- us2k10--------
    rs733597421,2
    C,F--124028836(+) AGGCCC/TGCTTC 1 -- us2k13Minor allele frequency- T:0.50WA CSA 6
    rs1417996611,2
    --124028906(+) AACCCC/TCCTGT 1 -- us2k10--------
    rs1437036901,2
    --124028943(+) CTTGTC/TGCCTA 1 -- us2k10--------
    rs359587701,2
    C,F--124028981(+) GTGCAC/TGTCCC 1 -- us2k110Minor allele frequency- T:0.23NA CSA WA EA 370
    rs751468081,2
    F--124028982(+) TGCACG/ATCCCT 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs112005211,2
    F,A,H--124029032(+) GAGCAC/TCAGTG 1 -- us2k15Minor allele frequency- T:0.02NS EA WA 514
    rs108871151,2
    C,A,H--124029062(+) TCAAAT/CCCTGT 1 -- us2k14Minor allele frequency- C:0.07NS NA EA 476
    rs70943471,2
    C,F,A,H--124029182(+) CTGTCG/ATCTCA 1 -- us2k133Minor allele frequency- A:0.26NS EA NA WA CSA 3192

    HapMap Linkage Disequilibrium report for BTBD16 (124030821 - 124097677 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for BTBD16: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BTBD16
    DNA2.0 Custom Variant and Variant Library Synthesis for BTBD16

    (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.)
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    Find genes that share disorders with BTBD16           About GenesLikeMe

    Genetic Association Database (GAD): BTBD16
    Human Genome Epidemiology (HuGE) Navigator: BTBD16 (4 documents)

    Export disorders for BTBD16 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 BTBD16 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with BTBD16)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Genome-wide association study of bipolar disorder in European American and African American individuals. (PubMed id 19488044)1, 4 Smith E.N....Kelsoe J.R. (Mol. Psychiatry 2009)
    3. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)1, 4 Uhl G.R....Lerman C. (Arch. Gen. Psychiatry 2008)
    4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    8. Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. (PubMed id 23577725)1 Naj A.C....Pericak-Vance M.A. (Ann. Hum. Genet. 2013)
    9. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    10. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)

    (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: 118663 HGNC: 26340 AceView: C10orf87 Ensembl:ENSG00000138152 euGenes: HUgn118663
    ECgene: BTBD16 H-InvDB: BTBD16

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for BTBD16 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 BTBD16 gene:
    Search GeneIP for patents involving BTBD16

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 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 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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