Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

JAZF1 Gene

protein-coding   GIFtS: 51
GCID: GC07M027837

JAZF Zinc Finger 1

  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
JAZF Zinc Finger 11 2     TAK1-Interacting Protein 272 3
TIP272 3 5     Juxtaposed With Another Zinc Finger Gene 12
Zinc Finger Protein 8022 3     Juxtaposed With Another Zinc Finger Protein 12
ZNF8022 3     

External Ids:    HGNC: 289171   Entrez Gene: 2218952   Ensembl: ENSG000001538147   OMIM: 6062465   UniProtKB: Q86VZ63   

Export aliases for JAZF1 gene to outside databases

Previous GC identifers: GC07U990333 GC07M027578 GC07M027612 GC07M027595 GC07M027643 GC07M027752


(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 JAZF1 Gene:
This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional
repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors.
Alternatively spliced variants which encode different protein isoforms have been described; however, not all
variants have been fully characterized (provided by RefSeq, Jul 2008)

GeneCards Summary for JAZF1 Gene: 
JAZF1 (JAZF zinc finger 1) is a protein-coding gene. Diseases associated with JAZF1 include endometrial stromal tumor, and endometrial stromal sarcoma. GO annotations related to this gene include transcription corepressor activity and nucleic acid binding.

UniProtKB/Swiss-Prot: JAZF1_HUMAN, Q86VZ6
Function: Potential transcription factor

Gene Wiki entry for JAZF1 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_000007.13  NC_018918.2  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the JAZF1 gene promoter:
         AML1a   Pbx1a   HOXA3   MyoD   Nkx2-5   Tal-1beta   E47   E2F-1   E2F   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJAZF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for JAZF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JAZF1


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

Entrez Gene cytogenetic band: 7p15.2-p15.1   Ensembl cytogenetic band:  7p15.1   HGNC cytogenetic band: 7p15.2-p15.1

JAZF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JAZF1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M027837:  view genomic region     (about GC identifiers)

Start:
27,870,192 bp from pter      End:
28,220,437 bp from pter
Size:
350,246 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 27,920,952-28,270,627     

(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: JAZF1_HUMAN, Q86VZ6 (See protein sequence)
Recommended Name: Juxtaposed with another zinc finger protein 1  
Size: 243 amino acids; 27079 Da
Subunit: Interacts with TAK1
Subcellular location: Nucleus (Potential)
Miscellaneous: Under hypoxic conditions, the precursor SUZ12 RNA undergoes regulated trans-splicing with the JAZF1
RNA, resulting in a chimeric isoform which may be protective against apoptosis. The chimeric transcript is
characterized by JAZF1 exons 1-3 joined to SUZ12 exon 2-16. The chimeric transcript is expressed primarily in the
endometrium from late secretory and early proliferative phases of the menstrual cycle, but not in normal
myometrium at any phase of the cycle. Its expression is slightly induced by low levels of progesterone, but
suppressed by both estrogen and high levels of progesterone (PubMed:18772439)
Secondary accessions: A4D195 Q8N3L7
Alternative splicing: 2 isoforms:  Q86VZ6-1   Q86VZ6-2   (Incomplete sequence. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for JAZF1: NX_Q86VZ6

Explore proteomics data for JAZF1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86VZ6

  • JAZF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    JAZF1 Protein Expression
    REFSEQ proteins: NP_778231.2  
    ENSEMBL proteins: 
     ENSP00000388302   ENSP00000283928   ENSP00000387976   ENSP00000415096   ENSP00000415984  
     ENSP00000401829   ENSP00000399083  

    Human Recombinant Protein Products for JAZF1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for JAZF1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for JAZF1
    GenScript Custom Purified and Recombinant Proteins Services for JAZF1
    Novus Biologicals JAZF1 Proteins
    Novus Biologicals JAZF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for JAZF1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0017053transcriptional repressor complex IDA15302918

    JAZF1 for ontologies           About GeneDecksing



    JAZF1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for JAZF1
    GenScript Custom Superior Antibodies Services for JAZF1
    Novus Biologicals JAZF1 Antibodies
    Abcam antibodies for JAZF1
    Cloud-Clone Corp. Antibodies for JAZF1 
    Search ThermoFisher Antibodies for JAZF1
    LSBio Antibodies in human, mouse, rat for JAZF1 

    Assay Products for JAZF1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for JAZF1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for JAZF1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for JAZF1 
    Cloud-Clone Corp. CLIAs for JAZF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q86VZ6

    ProtoNet protein and cluster: Q86VZ6

    UniProtKB/Swiss-Prot: JAZF1_HUMAN, Q86VZ6
    Similarity: Contains 3 C2H2-type zinc fingers


    JAZF1 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: JAZF1_HUMAN, Q86VZ6
    Function: Potential transcription factor

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0003714transcription corepressor activity IDA15302918
    GO:0008270zinc ion binding ----
    GO:0046872metal ion binding IEA--
         
    JAZF1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for JAZF1:
     Increased circadian period len  Nuclear 60S biogenesis defects 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for JAZF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for JAZF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for JAZF1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for JAZF1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target JAZF1:
    hsa-mir-31 (MIRT004973)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat JAZF1
    8/112 QIAGEN miScript miRNA Assays for microRNAs that regulate JAZF1 (see all 112):
    hsa-miR-323-3p hsa-miR-548j hsa-miR-520e hsa-miR-520f hsa-miR-146a hsa-miR-106a hsa-miR-93 hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidJAZF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for JAZF1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat JAZF1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for JAZF1
    Sirion Biotech Customized adenovirus for overexpression of JAZF1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for JAZF1 (see all 8)
    OriGene ORF clones in mouse, rat for JAZF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: JAZF1 (NM_175061)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for JAZF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JAZF1
    Sirion Biotech Customized lentivirus for stable overexpression of JAZF1 
                         Customized lentivirus expression plasmids for stable overexpression of JAZF1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for JAZF1
    Search LifeMap BioReagents cell lines for JAZF1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAZF1


    (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 JAZF1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for JAZF1 (Q86VZ63 ENSP000002839284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NR2C2P491163, ENSP000003204474I2D: score=1 STRING: ENSP00000320447
    MAP3K7O433183I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA15302918
    GO:0006351transcription, DNA-dependent IEA--

    JAZF1 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 JAZF1

    Search CenterWatch for drugs/clinical trials and news about JAZF1

    (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 JAZF1 gene: 
    NM_175061.3  

    Unigene Cluster for JAZF1:

    JAZF zinc finger 1
    Hs.368944  [show with all ESTs]
    Unigene Representative Sequence: NM_175061
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000427814(uc003szm.3) ENST00000283928(uc003szn.3) ENST00000466516
    ENST00000430432 ENST00000447620 ENST00000452993 ENST00000420835 ENST00000454041

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat JAZF1
    8/112 QIAGEN miScript miRNA Assays for microRNAs that regulate JAZF1 (see all 112):
    hsa-miR-323-3p hsa-miR-548j hsa-miR-520e hsa-miR-520f hsa-miR-146a hsa-miR-106a hsa-miR-93 hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidJAZF1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for JAZF1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat JAZF1
    Clone
    Products:
         
    OriGene clones in human, mouse for JAZF1 (see all 8)
    OriGene ORF clones in mouse, rat for JAZF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: JAZF1 (NM_175061)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for JAZF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JAZF1
    Sirion Biotech Customized lentivirus for stable overexpression of JAZF1 
                         Customized lentivirus expression plasmids for stable overexpression of JAZF1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for JAZF1
    OriGene qSTAR qPCR primer pairs in human, mouse for JAZF1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat JAZF1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat JAZF1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JAZF1

    Additional mRNA sequence: 

    AK000711.1 AK091311.1 AL832491.1 AY372319.1 BC042441.1 BC047229.1 

    7 DOTS entries:

    DT.100779449  DT.453881  DT.121046285  DT.121046177  DT.121046277  DT.75161380  DT.95183495 

    24/26 AceView cDNA sequences (see all 26):

    AX746909 BC047229 BX279610 AY372319 AI198420 AK091311 AL834234 AA351109 
    BC042441 AW296896 NM_175061 AW084514 AA758058 AL832491 AA431106 AA922111 
    BU626449 AK000711 AA861804 BU659479 AI990891 BG104990 AA436677 BX427161 

    GeneLoc Exon Structure


    (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

    JAZF1 expression in normal human tissues (normalized intensities)      JAZF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAAATTTCT
    JAZF1 Expression
    About this image


    JAZF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Epithelium (Reproductive System)    fully expand to see all 4 entries
             vagina ; squamous epithelial cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex

    See JAZF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for JAZF1

    SOURCE GeneReport for Unigene cluster: Hs.368944
        SABiosciences Custom PCR Arrays for JAZF1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for JAZF1
    OriGene qSTAR qPCR primer pairs in human, mouse for JAZF1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat JAZF1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat JAZF1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JAZF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAZF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for JAZF1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jazf11 , 5 JAZF zinc finger 11, 5 92.32(n)1
    99.59(a)1
      6 (25.74 cM)5
    2319861  NM_173406.31  NP_775582.21 
     527687975 
    chicken
    (Gallus gallus)
    Aves JAZF11 JAZF zinc finger 1 87.38(n)
    98.35(a)
      420633  NM_001199618.1  NP_001186547.1 
    lizard
    (Anolis carolinensis)
    Reptilia JAZF16
    Uncharacterized protein
    98(a)
    1 ↔ 1
    GL343275.1(827265-944083)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.131772 Transcribed sequence 84.78(n)    BX726963.1 
    zebrafish
    (Danio rerio)
    Actinopterygii jazf1a1 JAZF zinc finger 1a 76.19(n)
    86.15(a)
      561144  NM_001044955.1  NP_001038420.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG120541 CG12054 59.94(n)
    56.81(a)
      43694  NM_143596.2  NP_651853.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SFP16
    Transcription factor that controls expression of r...
    9(a)
    1 ↔ 1
    XII(925568-927619)


    ENSEMBL Gene Tree for JAZF1 (if available)
    TreeFam Gene Tree for JAZF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for JAZF1 gene
    2 SIMAP similar genes for JAZF1 using alignment to 7 protein entries:     JAZF1_HUMAN (see all proteins):
    DKFZp686M1922    A-328A3.4

    JAZF1 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

    10/7335 SNPs in JAZF1 are shown (see all 7335)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs593421731,2
    C--27790980(+) CGCAC-/CCTGCTG 1 -- int11Minor allele frequency- CC:0.00NA 2
    rs105827991,2
    C--27831116(+) AAAAA-/A/AAA 
            
    CCCAC
    1 -- int11NA 2
    rs752551921,2
    F--27837100(+) TGTTAG/AAATCC 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs69484671,2
    C,F,A,H--27837166(+) TGTTAG/AGACAC 1 -- ds500116Minor allele frequency- A:0.31NS EA NA WA 1690
    rs730753541,2
    C,F--27837178(+) GCAGTC/GCTAGG 1 -- ds50011Minor allele frequency- G:0.12NA 120
    rs1481643201,2
    --27837214(+) CTTCCA/GGATAG 1 -- ds50010--------
    rs1829344891,2
    --27837215(+) TTCCAC/GATAGG 1 -- ds50010--------
    rs354105921,2
    C,F--27837305(+) AGTATC/ACTTGG 1 -- ds50013Minor allele frequency- A:0.33NA 6
    rs1872831121,2
    C--27837333(+) TAGACA/CCTGTT 1 -- ds50010--------
    rs1913211901,2
    --27837336(+) ACACTA/GTTCAT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for JAZF1 (27870192 - 28120192 bp, first 250kb of JAZF1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for JAZF1 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1128518CNV Deletion17803354
    esv2658930CNV Deletion23128226
    esv1002613CNV Deletion20482838
    esv1940109CNV Deletion18987734
    esv2665878CNV Deletion23128226
    esv2461042CNV Deletion19546169
    esv2734174CNV Deletion23290073
    esv269333CNV Insertion20981092
    esv24518CNV Loss19812545
    nsv520555CNV Loss19592680

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing JAZF1
    DNA2.0 Custom Variant and Variant Library Synthesis for JAZF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606246    OMIM disorders: --

    UniProtKB/Swiss-Prot: JAZF1_HUMAN, Q86VZ6
  • Note=A chromosomal aberration involving JAZF1 may be a cause of endometrial stromal tumors. Translocation
    t(7;17)(p15;q21) with SUZ12. The translocation generates the JAZF1-SUZ12 oncogene consisting of the N-terminus
    part of JAZF1 and the C-terminus part of SUZ12. It is frequently found in all cases of endometrial stromal
    tumors, except in endometrial stromal sarcomas, where it is rarer. Translocation t(6;7)(p21;p22) with PHF1

  • 11 diseases for JAZF1:    About MalaCards
    endometrial stromal tumor    endometrial stromal sarcoma    sarcoma    diabetes mellitus
    systemic lupus erythematosus    lupus erythematosus    obesity    prostate cancer
    rheumatoid arthritis    arthritis    prostatitis

    1 disease from the University of Copenhagen DISEASES database for JAZF1:
    Endometrial stromal sarcoma

    JAZF1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): JAZF1
    Human Genome Epidemiology (HuGE) Navigator: JAZF1 (68 documents)

    Export disorders for JAZF1 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 JAZF1 gene, integrated from 9 sources (see all 88):
    (articles sorted by number of sources associating them with JAZF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. (PubMed id 11371647)1, 2, 9 Koontz J.I.... Sklar J. (2001)
    2. A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells. (PubMed id 18772439)1, 2, 9 Li H....Sklar J. (2008)
    3. Meta-analysis of genome-wide and replication associat ion studies on prostate cancer. (PubMed id 20690139)1, 4 Liu H....Han C. (2011)
    4. Gene variants in the novel type 2 diabetes loci CDC12 3/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancre atic beta-cell function. (PubMed id 19833888)1, 4 Simonis-Bik A.M....'t Hart L.M. (2010)
    5. Type 2 diabetes risk alleles near ADCY5, CDKAL1 and H HEX-IDE are associated with reduced birthweight. (PubMed id 20490451)1, 4 Andersson E.A....Pedersen O. (2010)
    6. Genetic susceptibility to type 2 diabetes is associat ed with reduced prostate cancer risk. (PubMed id 20203524)1, 4 Pierce B.L. and Ahsan H. (2010)
    7. Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort. (PubMed id 20161779)1, 4 Wen J....Hu R. (2010)
    8. Evidence for an association between prostate cancer a nd chromosome 8q24 and 10q11 genetic variants in African American men: The flin t men's health study. (PubMed id 20717903)1, 4 Wang Y....Lange E.M. (2010)
    9. Obesity and diabetes genetic variants associated with gestational weight gain. (PubMed id 20816152)1, 4 Stuebe A.M....Siega-Riz A.M. (2010)
    10. Refining the prostate cancer genetic association with in the JAZF1 gene on chromosome 7p15.2. (PubMed id 20406958)1, 4 Prokunina-Olsson L....Yeager M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 221895 HGNC: 28917 AceView: JAZF1 Ensembl:ENSG00000153814 euGenes: HUgn221895
    ECgene: JAZF1 H-InvDB: JAZF1

    (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 JAZF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for JAZF1 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 JAZF1 gene:
    Search GeneIP for patents involving JAZF1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for JAZF1  
     OriGene qPCR primer pairs and template standards for JAZF1   OriGene Protein Over-expression Lysate for JAZF1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for JAZF1  
     OriGene qSTAR qPCR primer pairs in human, mouse for JAZF1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for JAZF1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for JAZF1   OriGene Custom Protein Services for JAZF1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat JAZF1
     QIAGEN SeqTarget long-range PCR primers for resequencing JAZF1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JAZF1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat JAZF1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JAZF1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat JAZF1
     GenScript Custom Purified and Recombinant Proteins Services for JAZF1 GenScript cDNA clones with any tag delivered in your preferred vector for JAZF1
     GenScript Custom Assay Services for JAZF1 GenScript Custom Superior Antibodies Services for JAZF1
     GenScript Custom overexpressing Cell Line Services for JAZF1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in JAZF1 promoter
     Search Chromatin IP Primers for JAZF1
     RT2 qPCR Primer Assay in human, mouse, rat JAZF1
     Search GNC Networks for JAZF1
     SABiosciences Custom PCR Arrays for JAZF1
     Search Tocris compounds for JAZF1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     JAZF1 antibodies
     JAZF1 proteins
     JAZF1 lysates
     Antibodies for JAZF1
     See all of Abcam's Antibodies, Kits and Proteins for JAZF1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for JAZF1
     Antibodies for JAZF1
     ELISAs for JAZF1
     CLIAs for JAZF1
     Search LifeMap BioReagents cell lines for JAZF1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAZF1
     SwitchGear 3'UTR luciferase reporter plasmids for JAZF1
     SwitchGear Promoter luciferase reporter plasmids for JAZF1
     Search ThermoFisher Antibodies for JAZF1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JAZF1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for JAZF1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for JAZF1
    Customized:
     lentivirus for stable overexpression of JAZF1
     lentivirus expression plasmids for stable overexpression of JAZF1
     adenovirus for overexpression of JAZF1
     LSBio Antibodies in human, mouse, rat for JAZF1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      JAZF1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4