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

BTBD2 Gene

protein-coding   GIFtS: 55
GCID: GC19M001985

BTB (POZ) Domain Containing 2

  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 21 2
BTB/POZ Domain-Containing Protein 22

External Ids:    HGNC: 155041   Entrez Gene: 556432   Ensembl: ENSG000001332437   OMIM: 6085315   UniProtKB: Q9BX703   

Export aliases for BTBD2 gene to outside databases

Previous GC identifers: GC19M002048 GC19M001925 GC19M001936 GC19M001934 GC19M001757


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

Entrez Gene summary for BTBD2 Gene:
The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich
region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which
are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic
bodies. (provided by RefSeq, Jul 2008)

GeneCards Summary for BTBD2 Gene: 
BTBD2 (BTB (POZ) domain containing 2) is a protein-coding gene. Diseases associated with BTBD2 include glioblastoma, and lung cancer. GO annotations related to this gene include protein binding. An important paralog of this gene is BTBD1.

Gene Wiki entry for BTBD2 Gene


(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_000019.9  NT_011255.14  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BTBD2 gene promoter:
         AREB6   NF-1/L   NF-1   Elk-1   LCR-F1   YY1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for BTBD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTBD2


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

BTBD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTBD2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M001985:  view genomic region     (about GC identifiers)

Start:
1,985,447 bp from pter      End:
2,034,880 bp from pter
Size:
49,434 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: BTBD2_HUMAN, Q9BX70 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein 2  
Size: 525 amino acids; 55931 Da
Subunit: Interacts with topoisomerase 1 and with TRIM5 isoform Delta
Subcellular location: Cytoplasm, P-body. Note=Cytoplasmic bodies
Sequence caution: Sequence=AAC16070.1; Type=Erroneous gene model prediction; Sequence=BAB55143.1; Type=Erroneous
initiation;
1 PDB 3D structure from and Proteopedia for BTBD2:
3NO8 (3D)    
Secondary accessions: O60418 O75248 Q4VBZ1 Q6IAC5 Q7Z5W0 Q96SX8 Q9NPS1 Q9NX81
Alternative splicing: 2 isoforms:  Q9BX70-1   Q9BX70-2   

Explore the universe of human proteins at neXtProt for BTBD2: NX_Q9BX70

Explore proteomics data for BTBD2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BX70

  • BTBD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BTBD2 Protein Expression
    REFSEQ proteins: NP_060267.2  
    ENSEMBL proteins: 
     ENSP00000255608   ENSP00000467113   ENSP00000466686  

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    Cloud-Clone Corp. Proteins for BTBD2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000932cytoplasmic mRNA processing body IDA12878161

    BTBD2 for ontologies           About GeneDecksing



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    (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

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

    Graphical View of Domain Structure for InterPro Entry Q9BX70

    ProtoNet protein and cluster: Q9BX70

    3 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB011705 BTB/Kelch-associated
    IPB012983 PHR


    UniProtKB/Swiss-Prot: BTBD2_HUMAN, Q9BX70
    Similarity: Contains 1 BTB (POZ) domain


    BTBD2 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 IPI12878161
         
    BTBD2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BTBD2:
     Increased cell death HMECs cel 

    Animal Models:
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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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BTBD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/40 Interacting proteins for BTBD2 (Q9BX701, 2, 3 ENSP000002556084) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046371, 2, 3EBI-710091,EBI-366083 MINT-65379 I2D: score=5 
    DPPA4Q7L1902, 3, ENSP000003353064MINT-8254523 I2D: score=2 STRING: ENSP00000335306
    BRD7Q9NPI12, 3MINT-65392 I2D: score=5 
    C14orf1Q9UKR52, 3MINT-65393 I2D: score=5 
    CCDC90BQ9GZT62, 3MINT-65390 I2D: score=5 
    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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BTBD2

    Search CenterWatch for drugs/clinical trials and news about BTBD2

    (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 BTBD2 gene: 
    NM_017797.3  

    Unigene Cluster for BTBD2:

    BTB (POZ) domain containing 2
    Hs.465543  [show with all ESTs]
    Unigene Representative Sequence: AK056818
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000592895 ENST00000589685 ENST00000255608(uc002luo.1 uc002lup.1)
    ENST00000587825 ENST00000592082 ENST00000587225 ENST00000589200 ENST00000590646
    ENST00000587742 ENST00000588395
    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate BTBD2 (see all 9):
    hsa-miR-185* hsa-let-7a-2* hsa-miR-33a hsa-miR-544b hsa-miR-135b hsa-let-7g* hsa-miR-33b hsa-miR-143*
    SwitchGear 3'UTR luciferase reporter plasmidBTBD2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF355797.1 AK027481.1 AK056818.1 AK225831.1 AL360275.1 AY007116.1 BC000564.2 BC008035.2 
    BC053986.1 BC069199.1 BC094820.1 CR457230.1 

    10 DOTS entries:

    DT.115191  DT.95360692  DT.100789822  DT.100724241  DT.95360691  DT.95360690  DT.100789823  DT.121478488 
    DT.91771828  DT.95360708 

    24/352 AceView cDNA sequences (see all 352):

    T51086 BM547284 AL360275 BC000564 BU542409 BG403827 AA235538 BE871570 
    BU732212 CF144380 BE730852 BG610802 BC069199 AK056818 BQ949155 BM560061 
    BQ924946 BQ420960 BM479393 BG472178 BQ939885 BM751791 BM791323 BM756861 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for BTBD2    About this scheme

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


    ECgene alternative splicing isoforms for BTBD2

    (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

    BTBD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCCCAGATG
    BTBD2 Expression
    About this image


    See BTBD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BTBD2

    SOURCE GeneReport for Unigene cluster: Hs.465543
        SABiosciences Expression via Pathway-Focused PCR Array including BTBD2: 
              Ubiquitin Ligases in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for BTBD2 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Btbd21 , 5 BTB (POZ) domain containing 21, 5 86.94(n)1
    94.69(a)1
      10 (39.72 cM)5
    2081981  NM_145361.21  NP_663336.21 
     806426175 
    chicken
    (Gallus gallus)
    Aves BTBD26
    BTB (POZ) domain containing 2
    93(a)
    1 ↔ 1
    28(2090321-2093906)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.26182 Xenopus laevis transcribed sequence with moderate similarity more 80.25(n)    BJ072849.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.114782 Transcribed sequence with moderate similarity to protein more 73.46(n)    57095017 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG170686
    --
    15(a)
    possible ortholog
    X(20119377-20122516)
    worm
    (Caenorhabditis elegans)
    Secernentea F38H4.73
    tag-301
    BTB (also known as BR-C/Ttk) domain.3
    Protein TAG-301
    58(a)3
    56.51(n)1
    60.28(a)1
      IV(11851206-11855056)3
    1781161  NM_069843.21  NP_502244.11 


    ENSEMBL Gene Tree for BTBD2 (if available)
    TreeFam Gene Tree for BTBD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BTBD2 gene
    BTBD12  BTBD62  BTBD192  BTBD32  BTBD92  
    18/49 SIMAP similar genes for BTBD2 using alignment to 4 protein entries:     BTBD2_HUMAN (see all proteins) (see all similar genes):
    ZNF737    FKBP3    ZNF74    DCTN5    FAM3A    ZNF738
    AURA2    ZNF547    BTBD1    HECW1    HMGA2    LYRM4
    NSRP1    ZNF212    C4orf22    NF2    TMEM14B    UTY

    BTBD2 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) 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

    10/1034 SNPs in BTBD2 are shown (see all 1034)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1175240581,2
    C,F--1984996(+) CACCAC/TGCGGC 1 -- ds50011Minor allele frequency- T:0.03EA 120
    rs1140356111,2
    C,F--1984998(+) CCACGC/TGGCCT 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs1894315901,2
    C--1985011(+) CTGCCA/GGGTTT 1 -- ds50010--------
    rs1436075291,2
    C--1985016(+) GGGTTC/TCTTGA 1 -- ds50010--------
    rs1814659191,2
    --1985062(+) CCAACA/GGCTTG 1 -- ds50010--------
    rs1480214401,2
    C--1985131(+) ATCCAC/TGGTCC 1 -- ds50010--------
    rs1421658271,2
    --1985180(+) ACACAC/TGTCCA 1 -- ds50010--------
    rs1460278351,2
    --1985218(+) GAGTTA/CGTTAG 1 -- ds50010--------
    rs1864317701,2
    --1985241(+) GCCCAA/GGGGGG 1 -- ds50010--------
    rs1168515641,2
    C,F--1985280(+) AGTCTC/TGACCT 1 -- ds50011Minor allele frequency- T:0.03EA 120

    HapMap Linkage Disequilibrium report for BTBD2 (1985447 - 2034880 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/25 variations for BTBD2 (see all 25):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2717870CNV Deletion23290073
    esv2717869CNV Deletion23290073
    esv2661496CNV Deletion23128226
    esv2717868CNV Deletion23290073
    nsv470107CNV Loss18288195
    dgv3614n71CNV Loss21882294
    nsv910499CNV Loss21882294
    dgv3624n71CNV Loss21882294
    nsv910588CNV Loss21882294
    dgv3623n71CNV Loss21882294

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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.)
    About This Section
    OMIM gene information: 608531    OMIM disorders: --

    2 diseases for BTBD2:    About MalaCards
    glioblastoma    lung cancer


    BTBD2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BTBD2
    Human Genome Epidemiology (HuGE) Navigator: BTBD2 (1 document)

    Export disorders for BTBD2 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 BTBD2 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with BTBD2)
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    world of online information

    1. Characterization of BTBD1 and BTBD2, two similar BTB-domain- containing Kelch-like proteins that interact with topoisomerase I. (PubMed id 11818025)1, 2, 9 Xu L....D'Arpa P. (2002)
    2. BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta. (PubMed id 12878161)1, 2, 9 Xu L.... D'Arpa P. (2003)
    3. Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24. (PubMed id 11179693)1, 3, 9 Carim-Todd L.... Escarceller M. (2001)
    4. Gamma-radiation sensitivity and polymorphisms in RAD5 1L1 modulate glioma risk. (PubMed id 20610542)1, 4 Liu Y....Bondy M.L. (2010)
    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. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    10. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (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: 55643 HGNC: 15504 AceView: BTBD2 Ensembl:ENSG00000133243 euGenes: HUgn55643
    ECgene: BTBD2 H-InvDB: BTBD2

    (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 BTBD2 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 BTBD2 gene:
    Search GeneIP for patents involving BTBD2

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



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