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ZBTB16 Gene

protein-coding   GIFtS: 64
GCID: GC11P113930

Zinc Finger And BTB Domain Containing 16

(Previous names: zinc finger protein 145 (Kruppel-like, expressed in promyelocytic...)
(Previous symbol: ZNF145)
  See ZBTB16-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)
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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
Promyelocytic Leukaemia Zinc Finger1 2     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 leukemia, acute promyelocytic, pl2f/rara type, and skeletal defects, genital hypoplasia, and mental retardation. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_033899.9  NC_018922.2  
Regulatory elements:
   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 Chromatin IP Primers for ZBTB16

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: 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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ZBTB16 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000338157   ENSP00000437716   ENSP00000443013   ENSP00000376721   ENSP00000445047  
    Reactome Protein details: Q05516

    ZBTB16 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BTBD: BTB/POZ domain containing
    ZNF: Zinc fingers, C2H2-type

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

    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


    Find genes that share domains with ZBTB16           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS9294197
    GO:0003690double-stranded DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI16828757
    GO:0008022protein C-terminus binding IEA--
         
    Find genes that share ontologies with ZBTB16           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Zbtb16):
     cellular  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism  immune system 
     limbs/digits/tail  no phenotypic analysis  reproductive system  skeleton  tumorigenesis 

    Find genes that share phenotypes with ZBTB16           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Zbtb16tm1Ppp for ZBTB16

       genOway: Develop your customized and physiologically relevant rodent model for ZBTB16

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ZBT16_HUMAN, Q05516: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11929873
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane IEA--
    GO:0016604nuclear body IDA19648967
    GO:0016605PML body IDA9294197

    Find genes that share ontologies with ZBTB16           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ZBTB16 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    2Endometrial cancer
    Acute myeloid leukemia0.40
    3Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    4Pathways in cancer
    Pathways in cancer


    Find genes that share SuperPaths with ZBTB16           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for ZBTB16
        Antigen processing: Ubiquitination & Proteasome degradation


    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ZBTB16: 

              Polycomb & Trithorax Complexes in human mouse rat
              Huntington's Disease in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ZBTB16

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

    Selected Interacting proteins for ZBTB16 (Q055161, 2, 3 ENSP000003381574) via UniProtKB, MINT, STRING, and/or I2D (see all 152)
    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): Selected biological process terms (see all 27):    About this table

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

    Find genes that share ontologies with ZBTB16           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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)



    Find genes that share compounds with ZBTB16           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ZBTB16 gene (2 alternative transcripts): 
    NM_001018011.1  NM_006006.4  

    Unigene Cluster for ZBTB16:

    Zinc finger and BTB domain containing 16
    Hs.591945  [show with all ESTs]
    Unigene Representative Sequence: BX648973
    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
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    Additional mRNA sequence: 

    BC026902.1 BC029812.1 BX648973.1 Z19002.1 

    7 DOTS entries:

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

    Selected AceView cDNA sequences (see all 74):

    BG820096 NM_006006 BC029812 AI198303 BQ185051 CD518150 BQ187781 CB268674 
    BM969145 AW954317 CD621505 BX280946 BU731767 CB990313 BC026902 BX955225 
    BM873474 BQ184859 BM677752 BQ943253 BE222963 CB267893 BM873420 AL709859 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ZBTB16 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
     
     Adipose (Muscoskeletal System)    fully expand to see all 5 entries
             Body Subcutaneous White Adipose
             HyStem+BMP4-induced E15 cells
     
     Gonad
             Spermatogonial Stem Cells Seminiferous Tubules
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Spermatogonial Stem Cells Seminiferous Tubules
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+BMP4-induced MEL2 cells
    ZBTB16 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZBTB16 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591945

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ZBTB16: 
              Polycomb & Trithorax Complexes in human mouse rat
              Huntington's Disease in human mouse rat
              Ubiquitin Ligases in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZBTB16

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ZBTB16 gene from Selected 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_417898.4  XP_417898.3 
    lizard
    (Anolis carolinensis)
    Reptilia ZBTB166
    zinc finger and BTB domain containing 16
    76(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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ZBTB16 gene
    ZBTB392  ZBTB322  
    Selected 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

    Find genes that share paralogs with ZBTB16           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ZBTB16 (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 5 diseases for ZBTB16:    
    About MalaCards
    leukemia, acute promyelocytic, pl2f/rara type    skeletal defects, genital hypoplasia, and mental retardation    mednik syndrome    acute promyelocytic leukemia
    leukemia

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

    Find genes that share disorders with ZBTB16           About GenesLikeMe

    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)
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    PubMed articles for ZBTB16 gene, integrated from 10 sources (see all 178):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 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. (J. Clin. Invest. 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. (EMBO J. 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. (Mol. Med. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve. (PubMed id 20098615)1, 4 Wooten E.C....Huggins G.S. (PLoS ONE 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. (J. Med. Genet. 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. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 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. (Beijing Da Xue Xue Bao 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. (Genome Res. 2004)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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