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

ZBTB40 Gene

protein-coding   GIFtS: 54
GCID: GC01P022778

Zinc Finger And BTB Domain Containing 40

  Search for ZBTB40
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
Zinc Finger And BTB Domain Containing 401 2
KIAA04783 5
ZNF9232
Zinc Finger And BTB Domain-Containing Protein 402

External Ids:    HGNC: 290451   Entrez Gene: 99232   Ensembl: ENSG000001846777   OMIM: 6121065   UniProtKB: Q9NUA83   

Export aliases for ZBTB40 gene to outside databases

Previous GC identifers: GC01P022524 GC01P022650 GC01P021021


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

GeneCards Summary for ZBTB40 Gene: 
ZBTB40 (zinc finger and BTB domain containing 40) is a protein-coding gene. GO annotations related to this gene include DNA binding and molecular_function. An important paralog of this gene is ZNF317.

UniProtKB/Swiss-Prot: ZBT40_HUMAN, Q9NUA8
Function: May be involved in transcriptional regulation

Gene Wiki entry for ZBTB40 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_000001.10  NC_018912.2  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZBTB40 gene promoter:
         Pax-6   Meis-1b   MEF-2A   Max   ARP-1   aMEF-2   Meis-1a   TGIF   Meis-1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZBTB40 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZBTB40

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZBTB40


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

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36

ZBTB40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZBTB40 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P022778:  view genomic region     (about GC identifiers)

Start:
22,778,344 bp from pter      End:
22,857,650 bp from pter
Size:
79,307 bases      Orientation:
plus 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: ZBT40_HUMAN, Q9NUA8 (See protein sequence)
Recommended Name: Zinc finger and BTB domain-containing protein 40  
Size: 1239 amino acids; 138118 Da
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=BAA32323.2; Type=Erroneous initiation;
Secondary accessions: O75066 Q5TFU5 Q8N1R1
Alternative splicing: 2 isoforms:  Q9NUA8-1   Q9NUA8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ZBTB40: NX_Q9NUA8

Explore proteomics data for ZBTB40 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NUA8

  • ZBTB40 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZBTB40 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001077090.1  NP_055685.3  

    ENSEMBL proteins: 
     ENSP00000383098   ENSP00000364798   ENSP00000384527   ENSP00000363782  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15302935

    ZBTB40 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
    ZNF: Zinc fingers, C2H2-type

    5/6 InterPro protein domains (see all 6):
     IPR015880 Znf_C2H2-like
     IPR011333 BTB/POZ_fold
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR013069 BTB_POZ
     IPR000210 BTB/POZ-like

    Graphical View of Domain Structure for InterPro Entry Q9NUA8

    ProtoNet protein and cluster: Q9NUA8

    1 Blocks protein domain: IPB000210 BTB/POZ domain

    UniProtKB/Swiss-Prot: ZBT40_HUMAN, Q9NUA8
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 12 C2H2-type zinc fingers


    ZBTB40 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZBT40_HUMAN, Q9NUA8
    Function: May be involved in transcriptional regulation

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding ----
         
    ZBTB40 for ontologies           About GeneDecksing


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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 ZBTB40

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

    4 Interacting proteins for ZBTB40 (Q9NUA82, 3 ENSP000003647984) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    PAK1Q131533I2D: score=2 
    SUMO2ENSP000004059654STRING: ENSP00000405965
    --P310162MINT-8106763
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006974response to DNA damage stimulus IDA17525332
    GO:0030282bone mineralization NAS--

    ZBTB40 for ontologies           About GeneDecksing



    (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 ZBTB40 (ZBT40)

    Search CenterWatch for drugs/clinical trials and news about ZBTB40 / ZBT40

    (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 ZBTB40 gene (2 alternative transcripts): 
    NM_001083621.1  NM_014870.3  

    Unigene Cluster for ZBTB40:

    Zinc finger and BTB domain containing 40
    Hs.418966  [show with all ESTs]
    Unigene Representative Sequence: NM_001083621
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400239 ENST00000375647(uc001bfv.1) ENST00000404138(uc001bft.2 uc001bfu.2 uc009vqi.1)
    ENST00000374651
    miRNA
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    Additional mRNA sequence: 

    AB007947.2 AK091019.1 AK314747.1 BC114607.1 

    9 DOTS entries:

    DT.95369508  DT.121449984  DT.97817884  DT.40288549  DT.40313275  DT.121449977  DT.121449982  DT.91732579 
    DT.97789834 

    24/148 AceView cDNA sequences (see all 148):

    BM715561 CD671842 CA422875 BM674019 CD626263 AA913258 BX113705 BM972562 
    AL603138 BQ925357 AW103160 BE503066 AI862529 CD671843 BU682277 AW592033 
    AA806623 BU186485 BM722197 CB852809 AI933487 BE326551 BQ017023 N90703 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB40    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
    SP1:              -                       -                                                           -     -                                 
    SP2:                                      -                                                                                                   
    SP3:                                                                                                                                          
    SP4:                                                                                                                                          


    ECgene alternative splicing isoforms for ZBTB40

    (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

    ZBTB40 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTACAGGGC
    ZBTB40 Expression
    About this image


    See ZBTB40 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZBTB40

    SOURCE GeneReport for Unigene cluster: Hs.418966
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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 chordates.

    Orthologs for ZBTB40 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zbtb401 , 5 zinc finger and BTB domain containing 401, 5 82.08(n)1
    79.89(a)1
      4 (69.05 cM)5
    2308481  NM_198248.11  NP_937891.11 
     1369797325 
    chicken
    (Gallus gallus)
    Aves ZBTB401 zinc finger and BTB domain containing 40 70.57(n)
    66.46(a)
      419505  XM_417655.3  XP_417655.3 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5711581 zinc finger and BTB domain-containing protein 40-like 56.22(n)
    48.5(a)
      571158  XM_694726.5  XP_699818.5 


    ENSEMBL Gene Tree for ZBTB40 (if available)
    TreeFam Gene Tree for ZBTB40 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZBTB40 gene
    ZNF3172  
    18/164 SIMAP similar genes for ZBTB40 using alignment to 5 protein entries:     ZBT40_HUMAN (see all proteins) (see all similar genes):
    ZFS-5    ZNF78L1    ZNF    HIC1    ZNF195    ZNF55
    kr-znf3    KLF1    ZNF204    MYNN    ZFS-2    ZNF234
    ZNF317    ZNF500    ZNF876P    GLI4    ZNF808    DKFZp686N0199

    ZBTB40 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

    10/1626 SNPs in ZBTB40 are shown (see all 1626)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs767716701,2
    C,F--22776429(+) TCGATA/GAATAT 2 -- us2k12Minor allele frequency- G:0.09WA 120
    rs352738751,2
    C--22776440(+) TTCTC-/TTTTTT 2 -- us2k12Minor allele frequency- T:0.25NA CSA 4
    rs1864306051,2
    --22776539(+) TCAAGC/TGATTC 2 -- us2k10--------
    rs744535561,2
    F--22776765(+) TAGAGC/AACCTA 2 -- us2k11Minor allele frequency- A:0.01NA 120
    rs1892350321,2
    --22776767(+) GAGCAC/TCTACT 2 -- us2k10--------
    rs1816313821,2
    --22776953(+) TGTAAC/TGGTGA 2 -- us2k10--------
    rs1403821511,2
    --22777200(+) TATGAC/TCGACC 2 -- us2k10--------
    rs1503695341,2
    --22777227(+) GCAAGG/TGACAG 2 -- us2k10--------
    rs1407764041,2
    C--22777303(+) CTCTC-/AAGAAC 2 -- us2k10--------
    rs1867843931,2
    --22777449(+) GTTCAC/GTGGGC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ZBTB40 (22778344 - 22857650 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ZBTB40:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv506921CNV Insertion20534489
    nsv6298CNV Loss18451855
    nsv819803CNV Gain19587683


    Human Gene Mutation Database (HGMD): ZBTB40
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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

    ZBTB40 for disorders           About MalaCards
    OMIM gene information: 612106    OMIM disorders: --


    ZBTB40 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ZBTB40
    Human Genome Epidemiology (HuGE) Navigator: ZBTB40 (5 documents)

    Export disorders for ZBTB40 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 ZBTB40 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with ZBTB40)
        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. (2010)
    2. Analysis of recently identified osteoporosis suscepti bility genes in Han Chinese women. (PubMed id 20554715)1, 4 Liu J.M....Ning G. (2010)
    3. Twenty bone-mineral-density loci identified by large- scale meta-analysis of genome-wide association studies. (PubMed id 19801982)1, 4 Rivadeneira F....Uitterlinden A.G. (2009)
    4. Multiple genetic loci for bone mineral density and fractures. (PubMed id 18445777)1, 4 Styrkarsdottir U....Stefansson K. (2008)
    5. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)1, 2 Matsuoka S.... Elledge S.J. (2007)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    9. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2 Seki N.... Ohara O. (1997)
    10. Genome-wide association study link novel loci to endom etriosis. (PubMed id 23472165)1 Albertsen H.M....Ward K. (2013)

    (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: 9923 HGNC: 29045 AceView: KIAA0478 Ensembl:ENSG00000184677 euGenes: HUgn9923
    ECgene: ZBTB40 H-InvDB: ZBTB40

    (According to HUGE)
    About This Section
    HUGE: KIAA0478

    (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 ZBTB40 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 ZBTB40 gene:
    Search GeneIP for patents involving ZBTB40

    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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