U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

STAT4 signal transducer and activator of transcription 4 [ Homo sapiens (human) ]

Gene ID: 6775, updated on 4-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
STAT4provided by HGNC
Official Full Name
signal transducer and activator of transcription 4provided by HGNC
Primary source
HGNC:HGNC:11365
See related
Ensembl:ENSG00000138378 MIM:600558; AllianceGenome:HGNC:11365
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DPMC; SLEB11
Summary
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]
Expression
Broad expression in testis (RPKM 9.8), lymph node (RPKM 6.0) and 17 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See STAT4 in Genome Data Viewer
Location:
2q32.2-q32.3
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (191029576..191151596, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (191518699..191663236, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (191894302..192016322, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene signal transducer and activator of transcription 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12190 Neighboring gene RAB1A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16877 Neighboring gene uncharacterized LOC124900514 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:191885525-191886142 Neighboring gene uncharacterized LOC107985785 Neighboring gene STAT4 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:191963075-191963357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12193 Neighboring gene RNA, U6 small nuclear 959, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:191998534-191999034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16879 Neighboring gene uncharacterized LOC105373804 Neighboring gene high mobility group box 1 pseudogene 27 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:192053185-192054384 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:192055155-192055352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16880

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Association between STAT4 gene polymorphisms and autoimmune thyroid diseases in a Chinese population. Yan N, et al. Int J Mol Sci, 2014 Jul 11. PMID 25019342, Free PMC Article
  2. Silencing of stat4 gene inhibits cell proliferation and invasion of colorectal cancer cells. Cheng JM, et al. J Biol Regul Homeost Agents, 2015 Jan-Mar. PMID 25864744
  3. Decreased STAT4 indicates poor prognosis and enhanced cell proliferation in hepatocellular carcinoma. Wang G, et al. World J Gastroenterol, 2015 Apr 7. PMID 25852285, Free PMC Article
  4. Association of STAT4 with susceptibility to rheumatoid arthritis and systemic lupus erythematosus in the Japanese population. Kobayashi S, et al. Arthritis Rheum, 2008 Jul. PMID 18576330
  5. Association of STAT4 with rheumatoid arthritis: a replication study in three European populations. Orozco G, et al. Arthritis Rheum, 2008 Jul. PMID 18576336

See all (307) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. STAT4 and STAT6, their role in cellular and humoral immunity and in diverse human diseases.
    Title: STAT4 and STAT6, their role in cellular and humoral immunity and in diverse human diseases.
  2. Signal Transducer and Activator of Transcription 4-Induced Up-Regulated LINC01278 Enhances Proliferation and Invasion of Non-Small Cell Lung Cancer Cells via the MicroRNA-877-5p/Activating Transcription Factor 4 Axis.
    Title: Signal Transducer and Activator of Transcription 4-Induced Up-Regulated LINC01278 Enhances Proliferation and Invasion of Non-Small Cell Lung Cancer Cells via the MicroRNA-877-5p/Activating Transcription Factor 4 Axis.
  3. Investigating the Link between STAT4 Genetic Variants, STAT4 Protein Concentrations, and Laryngeal Squamous Cell Carcinoma: A Comprehensive Analysis of Clinical Manifestations.
    Title: Investigating the Link between STAT4 Genetic Variants, STAT4 Protein Concentrations, and Laryngeal Squamous Cell Carcinoma: A Comprehensive Analysis of Clinical Manifestations.
  4. Association between STAT4 gene polymorphism and susceptibility to pulmonary tuberculosis in the Moldavian population.
    Title: Association between STAT4 gene polymorphism and susceptibility to pulmonary tuberculosis in the Moldavian population.
  5. Association between STAT4 gene polymorphism and type 2 diabetes risk in Chinese Han population.
    Title: Association between STAT4 gene polymorphism and type 2 diabetes risk in Chinese Han population.
  6. The Role of JAK-STAT-SOCS1 Axis in Tumorigenesis, Malignant Progression and Lymphatic Metastasis of Penile Cancer.
    Title: The Role of JAK-STAT-SOCS1 Axis in Tumorigenesis, Malignant Progression and Lymphatic Metastasis of Penile Cancer.
  7. STAT4 targets KISS1 to inhibit the oxidative damage, inflammation and neuronal apoptosis in experimental PD models by inactivating the MAPK pathway.
    Title: STAT4 targets KISS1 to inhibit the oxidative damage, inflammation and neuronal apoptosis in experimental PD models by inactivating the MAPK pathway.
  8. Single-cell deconvolution algorithms analysis unveils autocrine IL11-mediated resistance to docetaxel in prostate cancer via activation of the JAK1/STAT4 pathway.
    Title: Single-cell deconvolution algorithms analysis unveils autocrine IL11-mediated resistance to docetaxel in prostate cancer via activation of the JAK1/STAT4 pathway.
  9. STAT4 Gene Variant rs7574865 Is Associated with Rheumatoid Arthritis Activity and Anti-CCP Levels in the Western but Not in the Southern Population of Mexico.
    Title: STAT4 Gene Variant rs7574865 Is Associated with Rheumatoid Arthritis Activity and Anti-CCP Levels in the Western but Not in the Southern Population of Mexico.
  10. TOX, TWIST1, STAT4, and SATB1 protein expressions in early-stage mycosis fungoides.
    Title: TOX, TWIST1, STAT4, and SATB1 protein expressions in early-stage mycosis fungoides.
Submit: New GeneRIF Correction See all GeneRIFs (228)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Disabling pansclerotic morphea of childhood
MedGen: C3898649 OMIM: 620443 GeneReviews: Not available
not available
Systemic lupus erythematosus, susceptibility to, 11
MedGen: C2677096 OMIM: 612253 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
EBI GWAS Catalog
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.
EBI GWAS Catalog
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
EBI GWAS Catalog
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
EBI GWAS Catalog
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
EBI GWAS Catalog
Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.
EBI GWAS Catalog
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
EBI GWAS Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
EBI GWAS Catalog
Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.
EBI GWAS Catalog
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
EBI GWAS Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
EBI GWAS Catalog
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
EBI GWAS Catalog
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
EBI GWAS Catalog
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
EBI GWAS Catalog
Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.
EBI GWAS Catalog
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
EBI GWAS Catalog
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study.
EBI GWAS Catalog
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
EBI GWAS Catalog
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of signal transducer and activator of transcription 4 (STAT4) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • AC092614.2

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in T-helper 1 cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell surface receptor signaling pathway via JAK-STAT IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell surface receptor signaling pathway via JAK-STAT NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in defense response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in interleukin-12-mediated signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to interleukin-6 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to peptide hormone IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of RNA polymerase II transcription regulator complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of RNA polymerase II transcription regulator complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
signal transducer and activator of transcription 4

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012852.2 RefSeqGene

    Range
    100181..221599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243835.2 → NP_001230764.1  signal transducer and activator of transcription 4

    See identical proteins and their annotated locations for NP_001230764.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC031212, DC399230
    Consensus CDS
    CCDS2310.1
    UniProtKB/Swiss-Prot
    Q14765, Q96NZ6
    UniProtKB/TrEMBL
    C9JFG0
    Related
    ENSP00000351255.4, ENST00000358470.8
    Conserved Domains (4) summary
    cd10375
    Location:553 → 700
    SH2_STAT4; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 4proteins
    smart00964
    Location:2 → 121
    STAT_int; STAT protein, protein interaction domain
    cd16854
    Location:140 → 312
    STAT4_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 4 (STAT4)
    cd16848
    Location:316 → 473
    STAT4_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription 4 (STAT4)

  2. NM_003151.4 → NP_003142.1  signal transducer and activator of transcription 4

    See identical proteins and their annotated locations for NP_003142.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC031212, L78440
    Consensus CDS
    CCDS2310.1
    UniProtKB/Swiss-Prot
    Q14765, Q96NZ6
    UniProtKB/TrEMBL
    C9JFG0
    Related
    ENSP00000376134.2, ENST00000392320.7
    Conserved Domains (4) summary
    cd10375
    Location:553 → 700
    SH2_STAT4; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 4proteins
    smart00964
    Location:2 → 121
    STAT_int; STAT protein, protein interaction domain
    cd16854
    Location:140 → 312
    STAT4_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 4 (STAT4)
    cd16848
    Location:316 → 473
    STAT4_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription 4 (STAT4)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    191029576..191151596 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445604.1 → XP_047301560.1  signal transducer and activator of transcription 4 isoform X2

    UniProtKB/Swiss-Prot
    Q14765, Q96NZ6
    Related
    ENSP00000412397.2, ENST00000450994.2

  2. XM_047445603.1 → XP_047301559.1  signal transducer and activator of transcription 4 isoform X2

    UniProtKB/Swiss-Prot
    Q14765, Q96NZ6
    Related
    ENSP00000414322.2, ENST00000432798.2

  3. XM_006712719.4 → XP_006712782.1  signal transducer and activator of transcription 4 isoform X2

    See identical proteins and their annotated locations for XP_006712782.1

    UniProtKB/Swiss-Prot
    Q14765, Q96NZ6
    UniProtKB/TrEMBL
    C9JFG0
    Conserved Domains (4) summary
    cd10375
    Location:553 → 700
    SH2_STAT4; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 4proteins
    smart00964
    Location:2 → 121
    STAT_int; STAT protein, protein interaction domain
    cd16854
    Location:140 → 312
    STAT4_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 4 (STAT4)
    cd16848
    Location:316 → 473
    STAT4_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription 4 (STAT4)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    191518699..191663236 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343561.1 → XP_054199536.1  signal transducer and activator of transcription 4 isoform X1

  2. XM_054343565.1 → XP_054199540.1  signal transducer and activator of transcription 4 isoform X2

    UniProtKB/Swiss-Prot
    Q14765, Q96NZ6

  3. XM_054343564.1 → XP_054199539.1  signal transducer and activator of transcription 4 isoform X2

    UniProtKB/Swiss-Prot
    Q14765, Q96NZ6

  4. XM_054343566.1 → XP_054199541.1  signal transducer and activator of transcription 4 isoform X2

    UniProtKB/Swiss-Prot
    Q14765, Q96NZ6

  5. XM_054343563.1 → XP_054199538.1  signal transducer and activator of transcription 4 isoform X2

    UniProtKB/Swiss-Prot
    Q14765, Q96NZ6

  6. XM_054343562.1 → XP_054199537.1  signal transducer and activator of transcription 4 isoform X2

    UniProtKB/Swiss-Prot
    Q14765, Q96NZ6

  7. XM_054343567.1 → XP_054199542.1  signal transducer and activator of transcription 4 isoform X3

  8. XM_054343568.1 → XP_054199543.1  signal transducer and activator of transcription 4 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14765.1 GenPept UniProtKB/Swiss-Prot:Q14765

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous