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

    Gene ID: 6775, updated on 25-Sep-2016
    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 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]
    Orthologs
    Location:
    2q32.2-q32.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 uncharacterized LOC105373804 Neighboring gene high mobility group box 1 pseudogene 27

    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
    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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • AC092614.2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II regulatory region sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    JAK-STAT cascade TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of transcription, DNA-templated 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
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred 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 RefSeqGene

      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 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, OTTHUMP00000163553, ENST00000358470, OTTHUMT00000255998
      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_003151.3NP_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, DC306142, L78440
      Consensus CDS
      CCDS2310.1
      UniProtKB/Swiss-Prot
      Q14765
      Related
      ENSP00000376134, OTTHUMP00000205847, ENST00000392320, OTTHUMT00000335586
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011511705.2XP_011510007.1  

      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  

      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_017004784.1XP_016860273.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

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