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

Gene ID: 6775, updated on 10-Oct-2019

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
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
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

Genomic context

See STAT4 in Genome Data Viewer
Location:
2q32.2-q32.3
Exon count:
30
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (191029576..191172684, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (191894302..192037404, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene signal transducer and activator of transcription 1 Neighboring gene RAB1A, member RAS oncogene family pseudogene Neighboring gene uncharacterized LOC105373805 Neighboring gene uncharacterized LOC107985785 Neighboring gene RNA, U6 small nuclear 959, pseudogene Neighboring gene uncharacterized LOC105373804 Neighboring gene high mobility group box 1 pseudogene 27

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Systemic lupus erythematosus 11
MedGen: C2677096 OMIM: 612253 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • AC092614.2

Gene Ontology Provided by GOA

Process Evidence Code Pubs
JAK-STAT cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
defense response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interleukin-12-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-21-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-23-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-35-mediated signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to peptide hormone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
signal transducer and activator of transcription 4
Names
signal transducer and activator of transcription 4 variant 3

NCBI Reference Sequences (RefSeq)

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_012852.1 RefSeqGene

    Range
    5206..126624
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243835.2NP_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
    Related
    ENSP00000351255.4, ENST00000358470.8
    Conserved Domains (4) summary
    cd10375
    Location:553700
    SH2_STAT4; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 4proteins
    smart00964
    Location:2121
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:140314
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:316562
    STAT_bind; STAT protein, DNA binding domain
  2. NM_003151.4NP_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
    Related
    ENSP00000376134.2, ENST00000392320.7
    Conserved Domains (4) summary
    cd10375
    Location:553700
    SH2_STAT4; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 4proteins
    smart00964
    Location:2121
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:140314
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:316562
    STAT_bind; STAT protein, DNA binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    191029576..191172684 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511705.2XP_011510007.1  signal transducer and activator of transcription 4 isoform X1

    See identical proteins and their annotated locations for XP_011510007.1

    UniProtKB/Swiss-Prot
    Q14765
    Conserved Domains (4) summary
    cd10375
    Location:553700
    SH2_STAT4; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 4proteins
    smart00964
    Location:2121
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:140314
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:316562
    STAT_bind; STAT protein, DNA binding domain
  2. XM_006712719.3XP_006712782.1  signal transducer and activator of transcription 4 isoform X1

    See identical proteins and their annotated locations for XP_006712782.1

    UniProtKB/Swiss-Prot
    Q14765
    Conserved Domains (4) summary
    cd10375
    Location:553700
    SH2_STAT4; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 4proteins
    smart00964
    Location:2121
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:140314
    STAT_alpha; STAT protein, all-alpha domain
    pfam02864
    Location:316562
    STAT_bind; STAT protein, DNA binding domain
  3. XM_017004784.2XP_016860273.1  signal transducer and activator of transcription 4 isoform X2

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