U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 6775, updated on 17-Jun-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STAT4 in Genome Data Viewer
    Location:
    2q32.2-q32.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (191029576..191151596, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (191518699..191663236, complement)
    105.20220307 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

    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
    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

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • AC092614.2

    Gene Ontology Provided by GOA

    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 
    part_of 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

    Preferred Names
    signal transducer and activator of transcription 4

    NCBI Reference Sequences (RefSeq)

    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_001243835.2NP_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, Q96NZ6
      UniProtKB/TrEMBL
      B4DV04
      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
      cd16854
      Location:140312
      STAT4_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 4 (STAT4)
      cd16848
      Location:316473
      STAT4_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription 4 (STAT4)
    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, Q96NZ6
      UniProtKB/TrEMBL
      B4DV04
      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
      cd16854
      Location:140312
      STAT4_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 4 (STAT4)
      cd16848
      Location:316473
      STAT4_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription 4 (STAT4)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_047445604.1XP_047301560.1  signal transducer and activator of transcription 4 isoform X2

      UniProtKB/Swiss-Prot
      Q14765, Q96NZ6
      UniProtKB/TrEMBL
      B4DV04
      Related
      ENSP00000412397.2, ENST00000450994.2
    2. XM_047445603.1XP_047301559.1  signal transducer and activator of transcription 4 isoform X2

      UniProtKB/Swiss-Prot
      Q14765, Q96NZ6
      UniProtKB/TrEMBL
      B4DV04
      Related
      ENSP00000414322.2, ENST00000432798.2
    3. XM_006712719.4XP_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
      B4DV04
      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
      cd16854
      Location:140312
      STAT4_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 4 (STAT4)
      cd16848
      Location:316473
      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_054343561.1XP_054199536.1  signal transducer and activator of transcription 4 isoform X1

      UniProtKB/TrEMBL
      B4DV04
    2. XM_054343565.1XP_054199540.1  signal transducer and activator of transcription 4 isoform X2

      UniProtKB/Swiss-Prot
      Q14765, Q96NZ6
      UniProtKB/TrEMBL
      B4DV04
    3. XM_054343564.1XP_054199539.1  signal transducer and activator of transcription 4 isoform X2

      UniProtKB/Swiss-Prot
      Q14765, Q96NZ6
      UniProtKB/TrEMBL
      B4DV04
    4. XM_054343566.1XP_054199541.1  signal transducer and activator of transcription 4 isoform X2

      UniProtKB/Swiss-Prot
      Q14765, Q96NZ6
      UniProtKB/TrEMBL
      B4DV04
    5. XM_054343563.1XP_054199538.1  signal transducer and activator of transcription 4 isoform X2

      UniProtKB/Swiss-Prot
      Q14765, Q96NZ6
      UniProtKB/TrEMBL
      B4DV04
    6. XM_054343562.1XP_054199537.1  signal transducer and activator of transcription 4 isoform X2

      UniProtKB/Swiss-Prot
      Q14765, Q96NZ6
      UniProtKB/TrEMBL
      B4DV04
    7. XM_054343567.1XP_054199542.1  signal transducer and activator of transcription 4 isoform X3

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