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

Gene ID: 6775, updated on 6-Jul-2014
Official Symbol
STAT4provided by HGNC
Official Full Name
signal transducer and activator of transcription 4provided by HGNC
Primary source
HGNC:11365
See related
Ensembl:ENSG00000138378; HPRD:02779; MIM:600558; Vega:OTTHUMG00000132700
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]
See STAT4 in Epigenomics, MapViewer
Location:
2q32.2-q32.3
Exon count :
27
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (191029576..191172671, 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 glutaminase Neighboring gene RAB1A, member RAS oncogene family pseudogene Neighboring gene signal transducer and activator of transcription 1, 91kDa Neighboring gene high mobility group box 1 pseudogene 27 Neighboring gene myosin IB

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
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
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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
 
signal transducer activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
JAK-STAT cascade TAS
Traceable Author Statement
more info
PubMed 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
signal transducer and activator of transcription 4
Names
signal transducer and activator of transcription 4

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 

    Range
    4604..126624
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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, OTTHUMP00000163553, ENST00000358470, OTTHUMT00000255998
    Conserved Domains (4) summary
    pfam02864
    Location:316563
    Blast Score: 1083
    STAT_bind; STAT protein, DNA binding domain
    cd10375
    Location:553700
    Blast Score: 820
    SH2_STAT4; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 4proteins
    smart00964
    Location:2121
    Blast Score: 434
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:137314
    Blast Score: 653
    STAT_alpha; STAT protein, all-alpha domain
  2. NM_003151.3NP_003142.1  signal transducer and activator of transcription 4

    See proteins identical to 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, DC306142, L78440
    Consensus CDS
    CCDS2310.1
    UniProtKB/Swiss-Prot
    Q14765
    Related
    ENSP00000376134, OTTHUMP00000205847, ENST00000392320, OTTHUMT00000335586
    Conserved Domains (4) summary
    pfam02864
    Location:316563
    Blast Score: 1083
    STAT_bind; STAT protein, DNA binding domain
    cd10375
    Location:553700
    Blast Score: 820
    SH2_STAT4; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 4proteins
    smart00964
    Location:2121
    Blast Score: 434
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:137314
    Blast Score: 653
    STAT_alpha; STAT protein, all-alpha domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    191029576..191172671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246817.2XP_005246874.1  

    Conserved Domains (4) summary
    pfam02864
    Location:325572
    Blast Score: 1083
    STAT_bind; STAT protein, DNA binding domain
    cd10375
    Location:562709
    Blast Score: 819
    SH2_STAT4; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 4proteins
    smart00964
    Location:11130
    Blast Score: 434
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:146323
    Blast Score: 655
    STAT_alpha; STAT protein, all-alpha domain
  2. XM_006712719.1XP_006712782.1  

    See proteins identical to XP_006712782.1

    UniProtKB/Swiss-Prot
    Q14765
    Conserved Domains (4) summary
    pfam02864
    Location:316563
    Blast Score: 1083
    STAT_bind; STAT protein, DNA binding domain
    cd10375
    Location:553700
    Blast Score: 820
    SH2_STAT4; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 4proteins
    smart00964
    Location:2121
    Blast Score: 434
    STAT_int; STAT protein, protein interaction domain
    pfam01017
    Location:137314
    Blast Score: 653
    STAT_alpha; STAT protein, all-alpha domain

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    183753956..183875743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    191900128..192022113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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