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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)
 Explore 25 diseases affiliated with
ZBTB16 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ZBTB16    

Aliases
for ZBTB16 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Zinc Finger And BTB Domain Containing 161 2     Zinc Finger Protein PLZF2 3
PLZF1 2 3 5     Zinc Finger And BTB Domain-Containing Protein 162
ZNF1451 2 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


Summaries
for ZBTB16 gene

(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:
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)

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)


Genomic Views
for ZBTB16 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_033899.8  
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

Proteins
for ZBTB16 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q05516

    • ZBTB16 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals ZBTB16 Protein
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    Uscn 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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    Uscn ELISAs and CLIAs for ZBTB16

    Protein Domains /
    Families
    for ZBTB16 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ZBTB16 for domains           About GeneDecksing

    5/6 InterPro domains/families (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 families:
    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


    Function
    for ZBTB16 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Induction: By retinoic acid

    miRNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS9294197
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0042802identical protein binding IPI9294197
    GO:0042803protein homodimerization activity IDA8622986


    ZBTB16 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Zbtb16tm1Ppp for ZBTB16
         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


    Pathways & Interactions
    for ZBTB16 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Antigen processing: Ubiquitination & Proteasome degradation
    		Antigen processing: Ubiquitination & Proteasome degradation1.00
    		Polyubiquitination of substrate0.75
    		Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    		Immune System1.00
    		Adaptive Immune System0.59
    3Pathways in cancer
    		Pathways in cancer1.00
    4Endometrial cancer
    		Acute myeloid leukemia0.39

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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


    2         Kegg Pathways  (Kegg details for ZBTB16):
        Pathways 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)

    5/140 Interacting proteins for ZBTB16 (Q055161, 2, 3 ENSP000003381574) via UniProtKB, MINT, STRING, and/or I2D (see all 140)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANAPC5Q9UJX42, 3, ENSP000002618194MINT-65751 I2D: score=5 STRING: ENSP00000261819
    CCDC85BQ158342, 3, ENSP000003116954MINT-68199 I2D: score=5 STRING: ENSP00000311695
    CEP70Q8NHQ12, 3, ENSP000002649824MINT-68128 I2D: score=5 STRING: ENSP00000264982
    KRTAP4-12Q9BQ662, 3, ENSP000003775824MINT-68002 I2D: score=5 STRING: ENSP00000377582
    LDOC1O957512, 3, ENSP000003595574MINT-66689 I2D: score=5 STRING: ENSP00000359557
    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



    Drugs & Compounds
    for ZBTB16 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

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

    Transcripts
    for ZBTB16 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ZBTB16:
    hsa-miR-3667-3p
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    Inhib. RNA
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    Clone
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    Additional cDNA 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):

    BQ184859 BM969145 BU731767 CB268674 BM873474 BC029812 BX280946 CB990313 
    BC026902 BX955225 BM677752 NM_006006 BG820096 BQ943253 AW954317 CD621505 
    CD518150 AI198303 BQ185051 BQ187781 CA396303 F35964 F00118 F36156 

    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

    Expression
    for ZBTB16 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGGGCCACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ZBTB16 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSpermatogonial Stem CellsGerm Cells, Male Gametocytes
    TestisSeminiferous TubulesSpermatogonium Type AGerm Cells, Male Gametocytes
    EyeInner Nuclear LayerType1 Off Cone Bipolar CellsBipolar, Retina
    AdiposeBody Subcutaneous White AdiposeAdipose
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    Posterior foregut-like cells (A scalable, suspensi...)
    Alveolar type II cells (Derivation of mature...)Lung
    HyStem+BMP4-induced SM30 cells (HyStem+BMP4 inductio...)Adipose, Bone, Cartilage
    HyStem+BMP4-induced 7SMOO32 cells (HyStem+BMP4 inductio...)Adipose
    HyStem+BMP4-induced E15 cells (HyStem+BMP4 inductio...)Adipose, Bone, Cartilage

    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

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for ZBTB16 gene

    (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 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 74(a)
    		 1 ↔ 1
    		 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
    for ZBTB16 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ZBTB16 gene
    ZBTB392  ZBTB322  
    18/36 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



    Genomic Variants
    for ZBTB16 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/3730 NCBI SNPs in ZBTB16 are shown (see all 3730)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs340297631,2
    		C,F,--109857086(+) CAAAGC/TGNNNN 1 -- us2k17Minor allele frequency- T:0.23NA CSA WA 247
    rs65894101,2
    		C,F,A,--109857097(+) CCTCCA/GGCAGG 1 -- us2k110Minor allele frequency- G:0.14NA WA CSA EA 378
    rs619044291,2
    		--109857589(+) ACCGCC/TTGGCC 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs26067281,2
    		F,--109857756(-) AGGCCT/CGAGTC 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs79402131,2
    		C,--109857758(+) CTCAGG/ACCTTG 1 -- us2k12Minor allele frequency- A:0.10WA 120
    rs792499251,2
    		C,--109858278(+) CGCTTC/GGACAA 2 -- us2k13Minor allele frequency- G:0.06WA EA 240
    rs780580801,2
    		--109858479(+) AAAAAA/GTTAAA 2 -- us2k10--------
    rs774444421,2
    		F,--109858566(+) GGGAGG/AGGGGG 2 -- us2k11Minor allele frequency- A:0.02WA 118
    rs775405821,2
    		--109858653(+) CCTATG/TAAGGA 2 -- us2k10--------
    rs1179416371,2
    		C,F,--109859155(+) CCTCCC/TCGACA 2 -- ut51 us2k11Minor allele frequency- T:0.04EA 120

    HapMap Linkage Disequilibrium report for ZBTB16 (113930315 - 114121398 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ZBTB16
         1 Indel: 44819
    Human Gene Mutation Database (HGMD): ZBTB16

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ZBTB16

    Disorders / Diseases
    for ZBTB16 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ZBTB16 for disorders           About GeneDecksing

    OMIM gene information: 176797   
    OMIM disorders: 612447  
    UniProtKB/Swiss-Prot: ZBT16_HUMAN, Q05516
  • Defects in ZBTB16 are the cause of 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=A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL).
    • Translocation t(11;17)(q32;q21) with RARA

    20/25 diseases for ZBTB16 (see all 25):    About MalaCards
    acute promyelocytic leukemia    skeletal defects, genital hypoplasia, and mental retardation    leukemia    fanconi's anemia
    b-cell lymphomas    short stature    germ cell tumor    chronic lymphocytic leukemia
    malignant mesothelioma    acute myeloid leukemia    lymphocytic leukemia    wilson disease
    myeloid leukemia    insulin resistance    myeloid malignancy    anemia
    huntington's disease    microcephaly    adhd    prostate cancer

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

    10 Novoseek 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

    Publications
    for ZBTB16 gene

    (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 171):
    (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. 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)
    5. [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)
    6. 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)
    7. Role of the ENTH domain in phosphatidylinositol-4,5-bisphosphate binding and endocytosis. (PubMed id 11161217)1, 2 Itoh T.... Takenawa T. (2001)
    8. A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF. (PubMed id 10572087)1, 2 Hoatlin M.E.... Licht J.D. (1999)
    9. Structure-function studies of the BTB/POZ transcriptional repression domain from the promyelocytic leukemia zinc finger oncoprotein. (PubMed id 10537309)1, 2 Li X....Marmorstein R. (1999)
    10. Crystal structure of the BTB domain from PLZF. (PubMed id 9770450)1, 2 Ahmad K.F.... Prive G.G. (1998)

    External Searches for ZBTB16 gene

    (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)

    Genome Databases showing ZBTB16 gene

    (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

    Other Databases showing ZBTB16 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ZBTB16 gene

    (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

    Intellectual Property
    for ZBTB16 gene

    (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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