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Aliases for STAT4 Gene

Aliases for STAT4 Gene

  • Signal Transducer And Activator Of Transcription 4 2 3 3 5
  • Signal Transducer And Activator Of Transcription 4 Variant 3 3
  • SLEB11 3

External Ids for STAT4 Gene

Previous GeneCards Identifiers for STAT4 Gene

  • GC02M190088
  • GC02M190596
  • GC02M191858
  • GC02M192096
  • GC02M191719
  • GC02M191602
  • GC02M183754
  • GC02M191894

Summaries for STAT4 Gene

Entrez Gene Summary for STAT4 Gene

  • 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]

GeneCards Summary for STAT4 Gene

STAT4 (Signal Transducer And Activator Of Transcription 4) is a Protein Coding gene. Diseases associated with STAT4 include Systemic Lupus Erythematosus 11 and Lupus Erythematosus. Among its related pathways are Immune response_IL-12 signaling pathway and Jak-Stat Signaling Pathway (sino). Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is STAT1.

UniProtKB/Swiss-Prot for STAT4 Gene

  • Carries out a dual function: signal transduction and activation of transcription. Involved in IL12 signaling.

Additional gene information for STAT4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STAT4 Gene

Genomics for STAT4 Gene

GeneHancer (GH) Regulatory Elements for STAT4 Gene

Promoters and enhancers for STAT4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J191244 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 669.1 -1.1 -1144 5.2 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 STAT4 ENSG00000227542 GC02M191246 MYO1B ENSG00000230686 DNAJB1P1
GH02J191147 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 659.9 +95.9 95940 6.7 PKNOX1 SIN3A IRF4 ZNF335 GLIS2 ATF7 IKZF2 RUNX3 CREM ZBTB11 STAT4 RNU6-959P ENSG00000280083
GH02J191165 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 656.2 +76.5 76514 9.2 PKNOX1 FOXA2 NFIB ARID4B SIN3A ZNF2 RAD21 RFX5 YY1 ZNF335 STAT4 MYO1B RNU6-959P ENSG00000227542 HMGB1P27 ENSG00000280083
GH02J191245 Enhancer 0.4 ENCODE dbSUPER 650.7 +1.7 1662 0.2 STAT4 MYO1B ENSG00000227542 LOC105373804
GH02J191112 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 30.7 +131.7 131666 4.7 PKNOX1 ESRRA PAX8 BATF EED ATF7 ETV6 IKZF2 RUNX3 CREM STAT4 MYO1B ENSG00000227542 GC02P191122 GC02P191061
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STAT4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STAT4 gene promoter:
  • IRF-1
  • GR-alpha
  • GR
  • GATA-3
  • Bach1
  • c-Jun
  • c-Fos
  • AP-1
  • POU2F1
  • POU2F1a

Genomic Locations for STAT4 Gene

Genomic Locations for STAT4 Gene
chr2:191,029,576-191,246,172
(GRCh38/hg38)
Size:
216,597 bases
Orientation:
Minus strand
chr2:191,894,302-192,016,322
(GRCh37/hg19)
Size:
122,021 bases
Orientation:
Minus strand

Genomic View for STAT4 Gene

Genes around STAT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STAT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STAT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STAT4 Gene

Proteins for STAT4 Gene

  • Protein details for STAT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14765-STAT4_HUMAN
    Recommended name:
    Signal transducer and activator of transcription 4
    Protein Accession:
    Q14765
    Secondary Accessions:
    • Q96NZ6

    Protein attributes for STAT4 Gene

    Size:
    748 amino acids
    Molecular mass:
    85941 Da
    Quaternary structure:
    • 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.

neXtProt entry for STAT4 Gene

Post-translational modifications for STAT4 Gene

  • Tyrosine phosphorylated. Serine phosphorylation is also required for maximal transcriptional activity (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for STAT4

No data available for DME Specific Peptides for STAT4 Gene

Domains & Families for STAT4 Gene

Gene Families for STAT4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Graphical View of Domain Structure for InterPro Entry

Q14765

UniProtKB/Swiss-Prot:

STAT4_HUMAN :
  • Belongs to the transcription factor STAT family.
Family:
  • Belongs to the transcription factor STAT family.
genes like me logo Genes that share domains with STAT4: view

Function for STAT4 Gene

Molecular function for STAT4 Gene

UniProtKB/Swiss-Prot Function:
Carries out a dual function: signal transduction and activation of transcription. Involved in IL12 signaling.
GENATLAS Biochemistry:
signal transducer and activator of transcription 4,involved in IL12 signal transduction,expressed in spleen,heart,brain

Phenotypes From GWAS Catalog for STAT4 Gene

Gene Ontology (GO) - Molecular Function for STAT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity TAS,IEA 9284918
GO:0004871 obsolete signal transducer activity IEA --
GO:0005515 protein binding IPI 22740693
genes like me logo Genes that share ontologies with STAT4: view
genes like me logo Genes that share phenotypes with STAT4: view

Human Phenotype Ontology for STAT4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STAT4 Gene

MGI Knock Outs for STAT4:

Animal Model Products

miRNA for STAT4 Gene

miRTarBase miRNAs that target STAT4

Transcription Factor Targets for STAT4 Gene

Selected GeneGlobe predicted Target genes for STAT4
Targeted motifs for STAT4 Gene
HOMER Transcription Factor Regulatory Elements motif STAT4
  • Consensus sequence: NTTTCCAGGAAA Submotif: canonical Cell Type: CD4 GEO ID: GSE22104

Clone Products

  • Addgene plasmids for STAT4

No data available for Enzyme Numbers (IUBMB) for STAT4 Gene

Localization for STAT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAT4 Gene

Cytoplasm. Nucleus. Note=Translocated into the nucleus in response to phosphorylation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STAT4 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for STAT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with STAT4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STAT4 Gene

Pathways & Interactions for STAT4 Gene

genes like me logo Genes that share pathways with STAT4: view

SIGNOR curated interactions for STAT4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for STAT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007165 signal transduction IEA --
GO:0007259 JAK-STAT cascade TAS 9284918
GO:0019221 cytokine-mediated signaling pathway TAS,IEA --
genes like me logo Genes that share ontologies with STAT4: view

Drugs & Compounds for STAT4 Gene

(5) Drugs for STAT4 Gene - From: PharmGKB, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Etanercept Approved, Investigational Pharma 413
Lisofylline Investigational Pharma 3

(4) Additional Compounds for STAT4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with STAT4: view

Transcripts for STAT4 Gene

Unigene Clusters for STAT4 Gene

Signal transducer and activator of transcription 4:
Representative Sequences:

Clone Products

  • Addgene plasmids for STAT4

Alternative Splicing Database (ASD) splice patterns (SP) for STAT4 Gene

No ASD Table

Relevant External Links for STAT4 Gene

GeneLoc Exon Structure for
STAT4
ECgene alternative splicing isoforms for
STAT4

Expression for STAT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for STAT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STAT4 Gene

This gene is overexpressed in Whole Blood (x5.6) and Brain - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for STAT4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.0), CD8 Tcells (15.2), Lymph node (9.4), and NK cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for STAT4 Gene



Protein tissue co-expression partners for STAT4 Gene

NURSA nuclear receptor signaling pathways regulating expression of STAT4 Gene:

STAT4

SOURCE GeneReport for Unigene cluster for STAT4 Gene:

Hs.80642

Evidence on tissue expression from TISSUES for STAT4 Gene

  • Blood(3.4)
  • Nervous system(3.1)
  • Lymph node(2.3)
  • Spleen(2.3)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STAT4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • esophagus
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • penis
  • testicle
  • vagina
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with STAT4: view

No data available for mRNA Expression by UniProt/SwissProt for STAT4 Gene

Orthologs for STAT4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for STAT4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STAT4 33
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia STAT4 34 33
  • 91.89 (n)
OneToOne
dog
(Canis familiaris)
Mammalia STAT4 33
  • 91.8 (n)
oppossum
(Monodelphis domestica)
Mammalia STAT4 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stat4 16 34 33
  • 88.37 (n)
rat
(Rattus norvegicus)
Mammalia Stat4 33
  • 88.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia STAT4 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves STAT4 34 33
  • 80.04 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stat4 33
  • 69.75 (n)
zebrafish
(Danio rerio)
Actinopterygii stat4 34 33
  • 64.55 (n)
OneToOne
Species where no ortholog for STAT4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for STAT4 Gene

ENSEMBL:
Gene Tree for STAT4 (if available)
TreeFam:
Gene Tree for STAT4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STAT4: view image

Paralogs for STAT4 Gene

Paralogs for STAT4 Gene

(8) SIMAP similar genes for STAT4 Gene using alignment to 9 proteins:

  • STAT4_HUMAN
  • B7SIX5_HUMAN
  • C9JFG0_HUMAN
  • C9JM11_HUMAN
  • D3DPI9_HUMAN
  • E9PBE2_HUMAN
  • E9PG69_HUMAN
  • Q53RU2_HUMAN
  • Q53S87_HUMAN
genes like me logo Genes that share paralogs with STAT4: view

Variants for STAT4 Gene

Sequence variations from dbSNP and Humsavar for STAT4 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs7574865 risk-factor, Systemic lupus erythematosus 11 191,099,907(-) T/G intron_variant
VAR_036002 A breast cancer sample p.Glu112Gln
rs3024866 benign, not specified 191,058,115(-) G/A intron_variant
rs1000005308 -- 191,075,354(-) A/G intron_variant
rs1000042334 -- 191,136,489(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for STAT4 Gene

Variant ID Type Subtype PubMed ID
esv25901 CNV loss 19812545
esv2657029 CNV deletion 23128226
esv2676475 CNV deletion 23128226
esv2721278 CNV deletion 23290073
esv2721279 CNV deletion 23290073
esv2721280 CNV deletion 23290073
esv3560730 CNV deletion 23714750
esv3593761 CNV loss 21293372
esv3593762 CNV gain 21293372
nsv1133282 CNV tandem duplication 24896259
nsv834493 CNV gain 17160897
nsv999391 CNV gain 25217958

Variation tolerance for STAT4 Gene

Residual Variation Intolerance Score: 31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.09; 22.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STAT4 Gene

Human Gene Mutation Database (HGMD)
STAT4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAT4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STAT4 Gene

Disorders for STAT4 Gene

MalaCards: The human disease database

(15) MalaCards diseases for STAT4 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
systemic lupus erythematosus 11
  • systemic lupus erythematosus, susceptibility to, 11
lupus erythematosus
  • systemic lupus erythematosus
systemic lupus erythematosus
  • sle
rheumatoid factor-negative juvenile idiopathic arthritis
  • juvenile rheumatoid factor-negative polyarthritis
pediatric systemic lupus erythematosus
  • sle, pediatric onset
- elite association - COSMIC cancer census association via MalaCards
Search STAT4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STAT4_HUMAN
  • Systemic lupus erythematosus 11 (SLEB11) [MIM:612253]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269 PubMed:17804842, ECO:0000269 PubMed:19109131}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Rheumatoid arthritis (RA) [MIM:180300]: An 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. {ECO:0000269 PubMed:17804842}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for STAT4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with STAT4: view

No data available for Genatlas for STAT4 Gene

Publications for STAT4 Gene

  1. Polymorphisms of signal transducers and activators of transcription 1 and 4 (STAT1 and STAT4) contribute to progression of childhood IgA nephropathy. (PMID: 20045654) Hahn WH … Kim SD (Cytokine 2010) 3 22 44 58
  2. Influence of STAT4 polymorphism in primary Sjögren's syndrome. (PMID: 20360187) Palomino-Morales RJ … Martín J (The Journal of rheumatology 2010) 3 22 44 58
  3. Association between the rs7574865 polymorphism of STAT4 and rheumatoid arthritis: a meta-analysis. (PMID: 19588142) Lee YH … Song GG (Rheumatology international 2010) 3 22 44 58
  4. Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort. (PMID: 19717398) Hellquist A … Kere J (Annals of the rheumatic diseases 2010) 3 22 44 58
  5. A STAT4 risk allele is associated with ischaemic cerebrovascular events and anti-phospholipid antibodies in systemic lupus erythematosus. (PMID: 19762360) Svenungsson E … Rönnblom L (Annals of the rheumatic diseases 2010) 3 22 44 58

Products for STAT4 Gene

  • Addgene plasmids for STAT4

Sources for STAT4 Gene

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