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

ZBTB16 Gene

protein-coding   GIFtS: 65
GCID: GC11P113930

Zinc Finger And BTB Domain Containing 16

(Previous names: zinc finger protein 145 (Kruppel-like, expressed in promyelocytic...)
(Previous symbol: ZNF145)
Microbiology & Infectious Diseases Congress
  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
Zinc Finger And BTB Domain Containing 161 2     Zinc Finger Protein PLZF2 3
ZNF1451 2 3 5     Zinc Finger And BTB Domain-Containing Protein 162
PLZF2 3 5     Promyelocytic Leukemia Zinc Finger Protein3
Zinc Finger Protein 145 (Kruppel-Like, Expressed In Promyelocytic
Leukemia)1 2
     Zinc Finger Protein 1453

External Ids:    HGNC: 129301   Entrez Gene: 77042   Ensembl: ENSG000001099067   OMIM: 1767975   UniProtKB: Q055163   

Export aliases for ZBTB16 gene to outside databases

Previous GC identifers: GC11P113435 GC11P109859


(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 ZBTB16 Gene:
This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription
factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in
the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances
of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL).
Alternate transcriptional splice variants have been characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for ZBTB16 Gene: 
ZBTB16 (zinc finger and BTB domain containing 16) is a protein-coding gene. Diseases associated with ZBTB16 include skeletal defects, genital hypoplasia, and mental retardation, and acute promyelocytic leukemia, and among its related super-pathways are Class I MHC mediated antigen processing & presentation and Immune System. GO annotations related to this gene include protein homodimerization activity and identical protein binding. An important paralog of this gene is ZBTB39.

UniProtKB/Swiss-Prot: ZBT16_HUMAN, Q05516
Function: Probable transcription factor. May play a role in myeloid maturation and in the development and/or
maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein
ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins

Gene Wiki entry for ZBTB16 (Zinc finger and BTB domain-containing protein 16) 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_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZBTB16 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ZBTB16 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZBTB16

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZBTB16


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

Entrez Gene cytogenetic band: 11q23.1   Ensembl cytogenetic band:  11q23.2   HGNC cytogenetic band: 11q23

ZBTB16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZBTB16 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P113930:  view genomic region     (about GC identifiers)

Start:
113,930,315 bp from pter      End:
114,121,398 bp from pter
Size:
191,084 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: ZBT16_HUMAN, Q05516 (See protein sequence)
Recommended Name: Zinc finger and BTB domain-containing protein 16  
Size: 673 amino acids; 74274 Da
Subunit: Binds EPN1. Interacts with ZBTB32 and CUL3
Subcellular location: Nucleus
2 PDB 3D structures from and Proteopedia for ZBTB16:
1BUO (3D)        1CS3 (3D)    
Secondary accessions: Q8TAL4
Alternative splicing: 2 isoforms:  Q05516-1   Q05516-2   

Explore the universe of human proteins at neXtProt for ZBTB16: NX_Q05516

Explore proteomics data for ZBTB16 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q05516

  • ZBTB16 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZBTB16 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001018011.1  NP_005997.2  

    ENSEMBL proteins: 
     ENSP00000338157   ENSP00000437716   ENSP00000443013   ENSP00000376721   ENSP00000445047  
    Reactome Protein details: Q05516
    Human Recombinant Protein Products for ZBTB16: 
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    Cloud-Clone Corp. Proteins for ZBTB16 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11929873
    GO:0016604nuclear body IDA19648967
    GO:0016605PML body IDA9294197
    GO:0016607nuclear speck IDA8541544
    GO:0017053transcriptional repressor complex IDA12802276

    ZBTB16 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 Q05516

    ProtoNet protein and cluster: Q05516

    2 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB007086 C2H2-type zinc finger signature


    UniProtKB/Swiss-Prot: ZBT16_HUMAN, Q05516
    Similarity: Belongs to the krueppel C2H2-type zinc-finger protein family
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 9 C2H2-type zinc fingers


    ZBTB16 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: ZBT16_HUMAN, Q05516
    Function: Probable transcription factor. May play a role in myeloid maturation and in the development and/or
    maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein
    ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins
    Induction: By retinoic acid

         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:0003677DNA binding NAS9294197
    GO:0005515protein binding IPI16828757
    GO:0008270zinc ion binding ----
    GO:0042802identical protein binding IPI9294197
    GO:0042803protein homodimerization activity IDA8622986
         
    ZBTB16 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Zbtb16):
     cellular  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism  immune system 
     limbs/digits/tail  reproductive system  skeleton 

    ZBTB16 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Zbtb16tm1Ppp for ZBTB16

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ZBTB16 
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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

    SuperPaths for ZBTB16 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3Endometrial cancer
    Acute myeloid leukemia0.40
    4Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    5Pathways in cancer
    Pathways in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4        Reactome Pathways for ZBTB16
        Antigen processing: Ubiquitination & Proteasome degradation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    3         Kegg Pathways  (Kegg details for ZBTB16):
        Pathways in cancer
    Transcriptional misregulation in cancer
    Acute myeloid leukemia

    UniProtKB/Swiss-Prot: ZBT16_HUMAN, Q05516
    Pathway: Protein modification; protein ubiquitination


    ZBTB16 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ZBTB16

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/147 Interacting proteins for ZBTB16 (Q055161, 2, 3 ENSP000003381574) via UniProtKB, MINT, STRING, and/or I2D (see all 147)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000172850Q9Y3332, 3MINT-65812 I2D: score=5 
    ENSG00000224979Q9Y3332, 3MINT-65812 I2D: score=5 
    ENSG00000225998Q9Y3332, 3MINT-65812 I2D: score=5 
    ENSG00000231502Q9Y3332, 3MINT-65812 I2D: score=5 
    ENSG00000236826Q9Y3332, 3MINT-65812 I2D: score=5 
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development ----
    GO:0001823mesonephros development ISS8541544
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006915apoptotic process NAS9294197

    ZBTB16 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

    ZBTB16 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ZBTB16 (ZBT16)

    1 HMDB Compound for ZBTB16    About this table
    CompoundSynonyms CAS #PubMed Ids
    ZincZinc (see all 2)7440-66-6--

    6 Novoseek inferred chemical compound relationships for ZBTB16 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 76.4 32 8384553 (2), 9462740 (2), 12794076 (2), 17217037 (2) (see all 23)
    zinc 73.8 86 18953495 (2), 10544010 (2), 17340613 (2), 11175338 (2) (see all 43)
    retinoid 43.4 2 8622986 (1)
    progesterone 0 5 12970399 (3)
    tyrosine 0 3 19421145 (1), 9717842 (1)
    testosterone 0 16 15065091 (7), 15334066 (2)

    Search CenterWatch for drugs/clinical trials and news about ZBTB16 / ZBT16

    (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 ZBTB16 gene (2 alternative transcripts): 
    NM_001018011.1  NM_006006.4  

    Unigene Clusters for ZBTB16:

    Zinc finger and BTB domain containing 16
    Hs.591945  [show with all ESTs], Hs.682144  [show with all ESTs]
    Unigene Representative Sequences: BX648973, AK126422
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335953(uc001pop.3 uc001poq.3) ENST00000541602(uc001poo.1)
    ENST00000544220 ENST00000535700 ENST00000392996 ENST00000539918 ENST00000545851
    ENST00000535379 ENST00000535509
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK126422.1 XR_111223.1 XR_171918.1 

    9 DOTS entries:

    DT.95361449  DT.411134  DT.95200997  DT.92420387  DT.120730770  DT.99964205  DT.120730737  DT.92420386 
    DT.95073700 

    24/74 AceView cDNA sequences (see all 74):

    BC029812 AI198303 BQ185051 CD518150 BQ187781 CB268674 BM969145 AW954317 
    CD621505 BX280946 BU731767 CB990313 BC026902 BX955225 BM873474 BQ184859 
    BM677752 NM_006006 BQ943253 BG820096 CB267893 BM873420 AL709859 CB987428 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB16    About this scheme

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


    ECgene alternative splicing isoforms for ZBTB16

    (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

    ZBTB16 expression in normal human tissues (normalized intensities)      ZBTB16 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGGCCACA
    ZBTB16 Expression
    About this image


    ZBTB16 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             brain/midbrain   
     
     Adipose (Muscoskeletal System)    fully expand to see all 5 entries
             Body Subcutaneous White Adipose
             HyStem+BMP4-induced E15 cells
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+BMP4-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+BMP4-induced E15 cells
     
     Fibroblast
             Human Cardiac Fibroblasts-adult ventrical (HCF-av)   

    See ZBTB16 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZBTB16

    SOURCE GeneReport for Unigene clusters: Hs.591945 Hs.682144

    UniProtKB/Swiss-Prot: ZBT16_HUMAN, Q05516
    Tissue specificity: Within the hematopoietic system, PLZF is expressed in bone marrow, early myeloid cell lines
    and peripheral blood mononuclear cells. Also expressed in the ovary, and at lower levels, in the kidney and lung

        SABiosciences Expression via Pathway-Focused PCR Arrays including ZBTB16: 
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              Huntington's Disease in human mouse rat
              Ubiquitin Ligases in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ZBTB16 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zbtb161 , 5 zinc finger and BTB domain containing 161, 5 90.49(n)1
    96.73(a)1
      9 (26.47 cM)5
    2353201  NM_001033324.21  NP_001028496.11 
     486543115 
    chicken
    (Gallus gallus)
    Aves ZBTB161 zinc finger and BTB domain containing 16 81(n)
    87.82(a)
      419759  XM_417898.3  XP_417898.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    ZBTB166
    Uncharacterized protein
    82(a)
    77(a)
    possible ortholog
    possible ortholog
    GL343354.1(31067-154451)
    AAWZ02037285(9111-10280)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.91342 Transcribed sequence with weak similarity to protein more 73.88(n)    BX683313.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb93g122 wufb93g12 78.94(n)   323269  BC046887.1 


    ENSEMBL Gene Tree for ZBTB16 (if available)
    TreeFam Gene Tree for ZBTB16 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZBTB16 gene
    ZBTB392  ZBTB322  
    18/35 SIMAP similar genes for ZBTB16 using alignment to 4 protein entries:     ZBT16_HUMAN (see all proteins) (see all similar genes):
    PLZF    ZBTB7C    ZNF295    ZBTB4    BACH1    KLHL7
    NACC1    KLHL2    KLHL18    ZBTB14    ZNF131    ZNF419
    BACH2    ZBTB22    HIC1    KLHL10    ZBTB21    GLI4

    ZBTB16 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

    10/3962 SNPs in ZBTB16 are shown (see all 3962)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0549124
    Skeletal defects, genital hypoplasia, and mental retardation (SGYMR)4--see VAR_0549122 M V mis40--------
    rs1881461601,2
    --109858162(+) GGGGGA/GGTAGG 2 -- us2k10--------
    rs1379334761,2
    C--109874967(+) TTTTG-/TAT   
       ATATA
    TATAT
    2 -- int10--------
    rs2013409881,2
    --109874979(+) ATATA-/TAT   
       ATATT
    TAGTA
    2 -- int10--------
    rs2021854431,2
    C--109878448(+) AAAAA-/AAAG  
            
    AAGAA
    2 -- int10--------
    rs2019969001,2
    --109878449(+) AAAAA-/AAGAAGAA 2 -- int10--------
    rs1134172471,2
    C--109879576(+) TTTTTC/TCCCCT 2 -- int10--------
    rs27352011,2
    C,F,H--109881453(+) TCTTTC/ACAAAA 2 -- int120Minor allele frequency- A:0.26NS EA NA WA CSA 1983
    rs30577111,2
    C--109946123(+) aaaaa-/A/AA  
            
    CCAAA
    2 -- int11NA 2
    rs1463166141,2
    C--109947678(+) CCCTCC/TCTCCC 2 -- int10--------

    HapMap Linkage Disequilibrium report for ZBTB16 (113930315 - 114121398 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ZBTB16:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2001202CNV Deletion18987734
    nsv498CNV Loss18451855
    nsv521857CNV Loss19592680
    nsv826091CNV Gain20364138


    Human Gene Mutation Database (HGMD): ZBTB16
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ZBTB16
    DNA2.0 Custom Variant and Variant Library Synthesis for ZBTB16

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 176797   
    OMIM disorders: 612447  
    UniProtKB/Swiss-Prot: ZBT16_HUMAN, Q05516
  • Skeletal defects, genital hypoplasia, and mental retardation (SGYMR) [MIM:612447]: A disorder
    characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional
    features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs,
    retarded bone age and genital hypoplasia. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Note=A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL).
    Translocation t(11;17)(q32;q21) with RARA

  • 20/26 diseases for ZBTB16 (see all 26):    About MalaCards
    skeletal defects, genital hypoplasia, and mental retardation    acute promyelocytic leukemia    leukemia    cellulitis
    wilson disease    fanconi's anemia    lymphoblastic lymphoma    malignant mesothelioma
    microcephaly    short stature    b-cell chronic lymphocytic leukemia    germ cell tumors
    anemia    mental retardation    acute leukemia    huntington's disease
    acute myeloid leukemia    b-cell lymphomas    insulin resistance    chronic lymphocytic leukemia

    1 disease from the University of Copenhagen DISEASES database for ZBTB16:
    Leukemia

    ZBTB16 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for ZBTB16 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    promyelocytic leukemia 90.8 70 14527952 (3), 18953495 (2), 17118363 (2), 18448589 (2) (see all 38)
    leukemia promyelocytic acute 89.9 25 10023668 (1), 7849296 (1), 7892256 (1), 9341182 (1) (see all 23)
    leukemogenesis 64.8 3 8622986 (1), 17217037 (1)
    leukemia 58.9 19 9591778 (2), 12970399 (2), 11090081 (1), 12802276 (1) (see all 14)
    fanconis anemia 36 2 11865059 (1), 17171645 (1)
    acute leukemia 7.12 1 15467736 (1)
    lymphoma non-hodgkins 6.72 2 10207085 (1), 11175338 (1)
    tumors 0 8 10980608 (2), 18246121 (1), 16828757 (1), 19459408 (1)
    prostate cancer 0 3 15065091 (2), 15334066 (1)
    cancer 0 3 12188922 (1), 18246121 (1), 17537403 (1)

    Genetic Association Database (GAD): ZBTB16
    Human Genome Epidemiology (HuGE) Navigator: ZBTB16 (6 documents)

    Export disorders for ZBTB16 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 ZBTB16 gene, integrated from 9 sources (see all 176):
    (articles sorted by number of sources associating them with ZBTB16)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic sequence, structural organization, molecular evolution, and aberrant rearrangement of promyelocytic leukemia zinc finger gene. (PubMed id 10500192)1, 2, 9 Zhang T.... Chen S.-J. (1999)
    2. Rearrangements of the retinoic acid receptor alpha and promyelocytic leukemia zinc finger genes resulting from t(11;17)(q23;q21) in a patient with acute promyelocytic leukemia. (PubMed id 8387545)1, 2, 9 Chen S.-J.... Chen Z. (1993)
    3. Fusion between a novel Kruppel-like zinc finger gene and the retinoic acid receptor-alpha locus due to a variant t(11;17) translocation associated with acute promyelocytic leukaemia. (PubMed id 8384553)1, 2, 9 Chen Z.... Zelent A. (1993)
    4. 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)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Application of gene network analysis techniques ident ifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve . (PubMed id 20098615)1, 4 Wooten E.C....Huggins G.S. (2010)
    7. Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia. (PubMed id 18611983)1, 2 Fischer S.... Wieczorek D. (2008)
    8. Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan. (PubMed id 18846501)1, 4 Sonuga-Barke E.J....Faraone S.V. (2008)
    9. [Role of molecular screening for common fusion genes in the diagnosis and classification of leukemia] (PubMed id 15968309)1, 4 Zhu Y.L....Liu J. (2005)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 7704 HGNC: 12930 AceView: ZBTB16 Ensembl:ENSG00000109906 euGenes: HUgn7704
    ECgene: ZBTB16 Kegg: 7704 H-InvDB: ZBTB16

    (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 ZBTB16 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ZBTB16 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ZBTB16 gene:
    Search GeneIP for patents involving ZBTB16

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



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