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

Summary

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
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

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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 Sj&#x000c3;&#x000b6;gren's syndrome at 7q11.23. EBI GWAS Catalog EBI GWAS CatalogPubMed
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. EBI GWAS Catalog EBI GWAS CatalogPubMed
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies new susceptibility loci for Beh&#x000e7;et's disease and epistasis between HLA-B*51 and ERAP1. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of a susceptibility locus in STAT4 for Beh&#x000e7;et's disease in Han Chinese in a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH120206 (e-PCR)
- UniSTS:133199

PMC55319P3 (e-PCR)
- UniSTS:273321

RH17878 (e-PCR)
- UniSTS:6628

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

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Preferred Names: signal transducer and activator of transcription 4

NCBI Reference Sequences (RefSeq)

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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

NG_012852.2 RefSeqGene

Range

100181..221599

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

191029576..191151596 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q14765, Q96NZ6

UniProtKB/TrEMBL

C9JFG0

Related

ENSP00000412397.2, ENST00000450994.2
XM_047445603.1 → XP_047301559.1 signal transducer and activator of transcription 4 isoform X2

UniProtKB/Swiss-Prot

Q14765, Q96NZ6

UniProtKB/TrEMBL

C9JFG0

Related

ENSP00000414322.2, ENST00000432798.2
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

NC_060926.1 Alternate T2T-CHM13v2.0

Range

191518699..191663236 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

C9JFG0
XM_054343565.1 → XP_054199540.1 signal transducer and activator of transcription 4 isoform X2

UniProtKB/Swiss-Prot

Q14765, Q96NZ6

UniProtKB/TrEMBL

C9JFG0
XM_054343564.1 → XP_054199539.1 signal transducer and activator of transcription 4 isoform X2

UniProtKB/Swiss-Prot

Q14765, Q96NZ6

UniProtKB/TrEMBL

C9JFG0
XM_054343566.1 → XP_054199541.1 signal transducer and activator of transcription 4 isoform X2

UniProtKB/Swiss-Prot

Q14765, Q96NZ6

UniProtKB/TrEMBL

C9JFG0
XM_054343563.1 → XP_054199538.1 signal transducer and activator of transcription 4 isoform X2

UniProtKB/Swiss-Prot

Q14765, Q96NZ6

UniProtKB/TrEMBL

C9JFG0
XM_054343562.1 → XP_054199537.1 signal transducer and activator of transcription 4 isoform X2

UniProtKB/Swiss-Prot

Q14765, Q96NZ6

UniProtKB/TrEMBL

C9JFG0
XM_054343567.1 → XP_054199542.1 signal transducer and activator of transcription 4 isoform X3

UniProtKB/TrEMBL

A0AAQ5BHR1
XM_054343568.1 → XP_054199543.1 signal transducer and activator of transcription 4 isoform X4