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

STAT4 Gene

protein-coding   GIFtS: 66
GCID: GC02M191894

signal transducer and activator of transcription 4

 Explore 42 diseases affiliated with
STAT4 via our new
 Human Malady Compendium 
Biological research products
for STAT4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Signal Transducer And Activator Of Transcription 41 2
SLEB112 5

External Ids:    HGNC: 113651   Entrez Gene: 67752   Ensembl: ENSG000001383787   OMIM: 6005585   UniProtKB: Q147653   

Export aliases for STAT4 gene to outside databases

Previous GC identifers: GC02M190088 GC02M190596 GC02M191858 GC02M192096 GC02M191719 GC02M191602 GC02M183754


(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 STAT4:
The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and
growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or
heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is
essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells.
Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate
splicing results in multiple transcript variants that encode the same protein. (provided by RefSeq, Aug 2011)

UniProtKB/Swiss-Prot: STAT4_HUMAN, Q14765
Function: Carries out a dual function: signal transduction and activation of transcription. Involved in IL12 signaling




(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_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the STAT4 gene promoter:
         c-Fos   Bach1   GR   AP-1   GATA-3   IRF-1   POU2F1   POU2F1a   GR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTAT4 promoter sequence
   Search SABiosciences Chromatin IP Primers for STAT4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STAT4


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

Entrez Gene cytogenetic band: 2q32.2-q32.3   Ensembl cytogenetic band:  2q32.3   HGNC cytogenetic band: 2q32.2-q32.3

STAT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STAT4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M191894:  view genomic region     (about GC identifiers)

Start:
191,894,302 bp from pter      End:
192,016,322 bp from pter
Size:
122,021 bases      Orientation:
minus strand

(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: STAT4_HUMAN, Q14765 (See protein sequence)
Recommended Name: Signal transducer and activator of transcription 4  
Size: 748 amino acids; 85941 Da
Subunit: Forms a homodimer or a heterodimer with a related family member. Interacts with ARL2BP (By similarity). The
SH2 domain interacts, in vitro, with IL12RB2 via a short cytoplasmic domain
Subcellular location: Cytoplasm. Nucleus. Note=Translocated into the nucleus in response to phosphorylation
Secondary accessions: Q96NZ6

Explore the universe of human proteins at neXtProt for STAT4: NX_Q14765

Post-translational modifications:

  • Tyrosine phosphorylated. Serine phosphorylation is also required for maximal transcriptional activity (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14765

  • STAT4 Protein expression data from MOPED and PaxDb:    About this image 
    STAT4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001230764.1  NP_003142.1  

    ENSEMBL proteins: 
     ENSP00000351255   ENSP00000376134   ENSP00000403238   ENSP00000386288   ENSP00000412397  
     ENSP00000414322  

    Human Recombinant Protein Products for STAT4: 
    EMD Millipore Purified and/or Recombinant STAT4 Protein
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    Novus Biologicals STAT4 Protein
    Novus Biologicals STAT4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for STAT4

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--

    STAT4 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for STAT4


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

    STAT4 for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR013801 STAT_TF_DNA-bd
     IPR008967 p53-like_TF_DNA-bd
     IPR011992 EF-hand-like_dom
     IPR013800 STAT_TF_alpha
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry Q14765

    ProtoNet protein and cluster: Q14765

    1 Blocks protein family: IPB001217 STAT protein

    UniProtKB/Swiss-Prot: STAT4_HUMAN, Q14765
    Similarity: Belongs to the transcription factor STAT family
    Similarity: Contains 1 SH2 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: STAT4_HUMAN, Q14765
    Function: Carries out a dual function: signal transduction and activation of transcription. Involved in IL12 signaling

         Genatlas biochemistry entry for STAT4:
    signal transducer and activator of transcription 4,involved in IL12 signal transduction,expressed in spleen,heart,brain

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0004871signal transducer activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0043565sequence-specific DNA binding IEA--
         
    STAT4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for STAT4:
     Synthetic lethal with gemcitab 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Stat4):
     cellular  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  renal/urinary system 

    STAT4 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for STAT4: Stat4tm1Jni Stat4tm1Gru
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for STAT4 

    10/175 SABiosciences Target genes for STAT4 (see all 175):
    ACCSL ACSM2A ADIG ADORA1 ADRB3 ALB ALG1 APBB2 ARID3B ASPHD2

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate STAT4:
    hsa-miR-141 hsa-miR-520d-5p hsa-miR-200a hsa-miR-524-5p hsa-miR-516a-3p hsa-miR-516b* hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidSTAT4 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STAT4 (see all 7)
    OriGene shRNA RFP: STAT4
    OriGene siRNA: STAT4
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    Sirion Biotech Custom design and validation of potent shRNA sequences against STAT4 

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: STAT4 (NM_003151)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STAT4 

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    Sirion Biotech Customized inducible overexpressing cell line services for STAT4

    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STAT4


    (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 - 5/20 super-pathways (see all 20About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune response IL-12-induced IFN-gamma production
    Immune response IL-12-induced IFN-gamma production1.00
    IL12-mediated signaling events0.33
    Immune response_IL-12-induced IFN-gamma production0.88
    2CNTF Signaling
    CNTF Signaling1.00
    IL-3 Pathway0.46
    FLT3 Signaling0.50
    3Development_PDGF signaling via STATs and NF-kB
    Immune response_IL-23 signaling pathway0.44
    IL23-mediated signaling events0.15
    Immune response IL-23 signaling pathway0.41
    4Immune response IL-12 signaling pathway
    Immune response IL-12 signaling pathway1.00
    Immune response_IL-12 signaling pathway0.96
    5Immune response IL-22 signaling pathway
    Immune response IL-22 signaling pathway1.00
    Immune response_IL-22 signaling pathway0.87

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    4 EMD Millipore Pathways for STAT4
        Immune response IL-23 signaling pathway
    Immune response IL-12-induced IFN-gamma production
    Immune response IL-22 signaling pathway
    Immune response IL-12 signaling pathway

    2 R&D Systems Pathways for STAT4
        Th1 Differentiation
    Th17 Differentiation

    5/12 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for STAT4 (see all 12)
        ErbB2-ErbB3 Heterodimers
    FLT3 Signaling
    MAPK Signaling
    CNTF Signaling
    JAK-STAT Pathway

    1 Cell Signaling Technology (CST) Pathway for STAT4
        Jak/Stat Pathway

    4 GeneGo (Thomson Reuters) Pathways for STAT4
        Immune response IL-12 signaling pathway
    Immune response IL-22 signaling pathway
    Immune response IL-12-induced IFN-gamma production
    Immune response IL-23 signaling pathway

    5/6 BioSystems Pathways for STAT4 (see all 6
        TSLP Signaling Pathway
    IL23-mediated signaling events
    IL12 signaling mediated by STAT4
    Downstream signaling in naive CD8+ T cells
    IL27-mediated signaling events

    1 PharmGKB Pathway for STAT4
        EGFR Inhibitor Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for STAT4):
        Jak-STAT signaling pathway


    STAT4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for STAT4

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

    5/44 Interacting proteins for STAT4 (Q147652, 3 ENSP000003512554) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL12RB2Q996652, 3, ENSP000002623454MINT-8033462 MINT-8033447 I2D: score=4 STRING: ENSP00000262345
    NMIQ132873, ENSP000002433464I2D: score=4 STRING: ENSP00000243346
    JUNP054123, ENSP000003602664I2D: score=3 STRING: ENSP00000360266
    CREBBPQ927933, ENSP000002623674I2D: score=2 STRING: ENSP00000262367
    MAP2K6P525643, ENSP000003519974I2D: score=2 STRING: ENSP00000351997
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006468protein phosphorylation IEA--
    GO:0007259JAK-STAT cascade TAS9284918
    GO:0008283cell proliferation IEA--

    STAT4 for ontologies           About GeneDecksing



    (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

    STAT4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for STAT4
    7 Novoseek chemical compound relationships for STAT4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    il-12 57.1 5 15087447 (4), 15688366 (1)
    tyrosine 50.9 49 8943379 (5), 9454765 (3), 10491012 (3), 10982828 (3) (see all 30)
    serine 11.2 19 8943379 (3), 10820390 (2), 12407017 (2), 15004198 (2) (see all 6)
    phosphotyrosine 7.73 3 9890938 (1), 10415122 (1)
    allergens 0 1 15744455 (1)
    phosphatidylinositol 0 2 10820390 (2)
    dexamethasone 0 5 16670125 (2), 10657623 (2)

    Search CenterWatch for drugs/clinical trials and news about STAT4 

    (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, Sirion Biotech, 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 STAT4 gene (2 alternative transcripts): 
    NM_001243835.1  NM_003151.3  

    Unigene Clusters for STAT4:

    Signal transducer and activator of transcription 4
    Hs.80642  [show with all ESTs], Hs.735572  [show with all ESTs]
    Unigene Representative Sequences: NM_003151, AK001864
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358470(uc010zgk.1 uc002usn.2) ENST00000392320(uc002usm.2)
    ENST00000463951 ENST00000495849(uc002uso.2) ENST00000470708 ENST00000495326(uc002usp.4 uc010zgm.1 uc010zgn.1 uc010zgo.1)
    ENST00000413064 ENST00000409995 ENST00000450994(uc010zgl.2) ENST00000432798


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    hsa-miR-141 hsa-miR-520d-5p hsa-miR-200a hsa-miR-524-5p hsa-miR-516a-3p hsa-miR-516b* hsa-miR-29b-1*
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STAT4

    Additional cDNA sequence: 

    AK001864.1 EU304791.1 

    8 DOTS entries:

    DT.210252  DT.40117013  DT.120978346  DT.91830250  DT.92051150  DT.91757396  DT.97837346  DT.101962272 

    24/43 AceView cDNA sequences (see all 43):

    BM918571 L78440 BC031212 NM_003151 AA310885 BM674243 AL046004 CB961839 
    BF056246 CD106642 AI669013 AW663965 BM715926 AW269424 CD521538 BG722188 
    CB993972 BG506572 BC016694 BX506073 BG718225 AL705314 BG057365 BX480276 

    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

    STAT4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACTTACAAT
    STAT4 Expression
    About this image

    STAT4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
    AdiposeBody Subcutaneous White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

    See STAT4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for STAT4

    SOURCE GeneReport for Unigene clusters: Hs.80642 Hs.735572
        SABiosciences Expression via Pathway-Focused PCR Arrays including STAT4 (see all 9): 
              Lymphoma in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Innate & Adaptive Immune Responses in human mouse rat
              Th17 Response in human mouse rat
              Neurotrophins & Receptors in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STAT4

    (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.

    Orthologs for STAT4 gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves STAT41 signal transducer and activator of transcription 4 80.21(n)
    84.49(a)
      768406  XM_001231298.2  XP_001231299.2 
    zebrafish
    (Danio rerio)
    Actinopterygii stat41 signal transducer and activator of transcription 4 64.6(n)
    65.11(a)
      368519  NM_001004510.1  NP_001004510.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sta-16
    sta-26
    Signal transducer and activator of transcription 1...
    Signal transducer and activator of transcription b...
    19(a)
    16(a)
    1 ↔ many
    possible ortholog
    IV(16664287-16671437)
    V(9741198-9744206)


    ENSEMBL Gene Tree for STAT4 (if available)
    TreeFam Gene Tree for STAT4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for STAT4 gene
    STAT5B2  STAT12  STAT22  STAT62  STAT32  STAT5A2  
    8 SIMAP similar genes for STAT4 using alignment to 9 protein entries:     STAT4_HUMAN (see all proteins):
    STAT1    Stat2    STAT3    STAT2    STAT6    DKFZp686H05229
    STAT5B    STAT5A

    STAT4 for paralogs           About GeneDecksing



    (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

    10/2121 NCBI SNPs in STAT4 are shown (see all 2121    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1820794281,2
    --191893831(+) TTCTCC/GTAGTC 2 -- ds50010--------
    rs30249101,2
    C,F--191893871(-) AATTTA/TAAAAA 2 -- ds50013Minor allele frequency- T:0.05NS WA 210
    rs30249091,2
    C,F--191893881(-) aaaaaA/-taata 2 -- ds50012Minor allele frequency- -:0.03NS 94
    rs739812131,2
    C--191893935(+) TTGCCC/TAAGAT 2 -- ds50012Minor allele frequency- T:0.11WA 120
    rs1459380131,2
    --191894012(+) ATAACA/GTTGAC 2 -- ds50010--------
    rs1136296111,2
    --191894059(+) GCCCCG/ATGAAT 2 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1872209551,2
    --191894084(+) CATCAC/TGACTT 2 -- ds50010--------
    rs1431155711,2
    --191894092(+) CTTTCC/TTCTTG 2 -- ds50010--------
    rs763535381,2
    C--191894123(+) CCTGCC/TAGCGT 2 -- ds50010--------
    rs30249081,2
    C,F,H--191894141(-) AGCCAA/GTCAGT 2 -- ds500123Minor allele frequency- G:0.13NS EA NA WA 2838

    HapMap Linkage Disequilibrium report for STAT4 (191894302 - 192016322 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for STAT4
         2 CNVs: 90190 63264
    Human Gene Mutation Database (HGMD): STAT4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing STAT4
    DNA2.0 Custom Variant and Variant Library Synthesis for STAT4

    (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

    STAT4 for disorders           About GeneDecksing

    OMIM gene information: 600558   
    OMIM disorders: 180300  612253  
    UniProtKB/Swiss-Prot: STAT4_HUMAN, Q14765
  • Genetic variations in STAT4 are associated with susceptibility to systemic lupus erythematosus type 11
  • (SLEB11) [MIM:612253]. Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with a complex genetic
    basis. SLE is an inflammatory, and often febrile multisystemic disorder of connective tissue characterized principally
    by involvement of the skin, joints, kidneys, and serosal membranes. It is thought to represent a failure of the
    regulatory mechanisms of the autoimmune system
  • Genetic variations in STAT4 are a cause of susceptibility to rheumatoid arthritis (RA) [MIM:180300]. It is a
  • systemic inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the
    joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread
    fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony
    structures

    20/42 diseases for STAT4 (see all 42):    About MalaCards
    systemic lupus erythematosus    rheumatoid arthritis    lupus erythematosus    arthritis
    inflammatory bowel disease    sle susceptibility    wegener's granulomatosis    rheumatoid arthritis, association with
    primary biliary cirrhosis    chronic obstructive pulmonary disease    allergic encephalomyelitis    encephalomyelitis
    acute lymphoblastic leukemia    systemic scleroderma    lymphoblastic leukemia    lupus nephritis
    antiphospholipid syndrome    nephritis    bronchiolitis    pulmonary disease

    2 diseases from the University of Copenhagen DISEASES database for STAT4:
    Systemic lupus erythematosus     Rheumatoid arthritis

    10/16 Novoseek disease relationships for STAT4 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autoimmune diseases 55 12 18703106 (2), 18576330 (2), 19500629 (2), 20176035 (1) (see all 8)
    rheumatoid arthritis 48.5 25 16760256 (2), 17932559 (2), 18432273 (2), 18576330 (2) (see all 20)
    sezary syndrome 46.3 1 10491012 (1)
    encephalomyelitis 27.9 1 17979888 (1)
    colitis ulcerative 26.5 5 20176035 (1), 20454450 (1), 18759272 (1), 20153791 (1) (see all 5)
    inflammatory bowel diseases 24.2 2 20454450 (1), 18759272 (1)
    lupus erythematosus systemic 19.7 8 18432273 (2), 18803832 (2), 18576330 (2), 19717398 (2) (see all 18)
    multiple sclerosis 15.7 1 17979888 (1)
    inflammation 9.1 7 10779770 (2), 19359411 (1), 20176035 (1), 19796080 (1) (see all 6)
    asthma 0 6 15744455 (2), 17404323 (1), 16301617 (1)

    Genetic Association Database (GAD): STAT4
    Human Genome Epidemiology (HuGE) Navigator: STAT4 (109 documents)

    Export disorders for STAT4 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 STAT4 gene, integrated from 9 sources (see all 307):
    (articles sorted by number of sources associating them with STAT4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Direct interaction of STAT4 with the IL-12 receptor. (PubMed id 10415122)1, 2, 9 Yao B.B.... Faltynek C.R. (1999)
    2. Association analysis of signal transducer and activator of transcription 4 (STAT4) polymorphisms with asthma. (PubMed id 15744455)1, 4, 9 Park B.L....Shin H.D. (2005)
    3. Identification of a STAT4 binding site in the interleukin-12 receptor required for signaling. (PubMed id 9890938)1, 2, 9 Naeger L.K.... Hoey T. (1999)
    4. Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo. (PubMed id 19109131)1, 2 Kariuki S.N....Niewold T.B. (2009)
    5. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. (PubMed id 17804842)1, 2 Remmers E.F....Gregersen P.K. (2007)
    6. Association analysis of common variants of STAT6, GATA3, and STAT4 to asthma and high serum IgE phenotypes. (PubMed id 15637551)1, 4 Pykalainen M....Lahesmaa R. (2005)
    7. 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)
    8. Requirement for Stat4 in interleukin-12-mediated responses of natural killer and T cells. (PubMed id 8700208)1, 3 Thierfelder W.E....Ihle J.N. (1996)
    9. Stat4, a novel gamma interferon activation site-binding protein expressed in early myeloid differentiation. (PubMed id 8007943)1, 3 Yamamoto K....Ihle J.N. (1994)
    10. STAT4 expression in human T cells is regulated by DNA methylation but not by promoter polymorphism. (PubMed id 16301617)1, 9 Shin H.J....Lee C.W. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6775 HGNC: 11365 AceView: STAT4 Ensembl:ENSG00000138378 euGenes: HUgn6775
    ECgene: STAT4 Kegg: 6775 H-InvDB: STAT4

    (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 STAT4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for STAT4 Genetics and Cytogenetics in Oncology and Haematology
    SeattleSNPshttp://pga.gs.washington.edu/data/stat4/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for STAT4 gene:
    Search GeneIP for patents involving STAT4

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



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