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    STAT6 signal transducer and activator of transcription 6 [ Homo sapiens (human) ]

    Gene ID: 6778, updated on 11-Apr-2018
    Official Symbol
    STAT6provided by HGNC
    Official Full Name
    signal transducer and activator of transcription 6provided by HGNC
    Primary source
    HGNC:HGNC:11368
    See related
    Ensembl:ENSG00000166888 MIM:601512; Vega:OTTHUMG00000171194
    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
    STAT6B; STAT6C; D12S1644; IL-4-STAT
    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 plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in spleen (RPKM 48.4), skin (RPKM 47.3) and 25 other tissues See more
    Orthologs
    Location:
    12q13.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (57095404..57111413, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57489187..57505196, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene myosin IA Neighboring gene nuclear envelope integral membrane protein 1 Neighboring gene NGFI-A binding protein 2 Neighboring gene LDL receptor related protein 1 Neighboring gene LRP1 antisense RNA Neighboring gene microRNA 1228

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
    NHGRI GWA Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
    NHGRI GWA Catalog
    Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.
    NHGRI GWA Catalog
    GWAS identifies four novel eosinophilic esophagitis loci.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Activation of IL-4/STAT6 signaling partially contributes to HIV-1 Tat-induced Kaposi's sarcoma-associated herpes virus (KSHV) replication PubMed

    Go to the HIV-1, Human Interaction Database

    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Cytosolic sensors of pathogen-associated DNA, organism-specific biosystem (from REACTOME)
      Cytosolic sensors of pathogen-associated DNA, organism-specific biosystemPresence of pathogen-associated DNA in cytosol induces type I IFN production. Several intracellular receptors have been implicated to some degree. These include DNA-dependent activator of interferon ...
    • Downstream signal transduction, organism-specific biosystem (from REACTOME)
      Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
    • Hepatitis B, organism-specific biosystem (from KEGG)
      Hepatitis B, organism-specific biosystemHepatitis B virus (HBV) is an enveloped virus and contains a partially double-stranded relaxed circular DNA (RC-DNA) genome. After entry into hepatocytes, HBV RC-DNA is transported to the nucleus and...
    • IL-4 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      IL-4 Signaling Pathway, organism-specific biosystemIL-4 is a glycoprotein which is composed of 129 amino acids and has a molecular weight of 20kDa. IL-4 and IL-13 are produced by CD4+ cells and exhibit significant functional overlap. Both these cytok...
    • IL12-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL12-mediated signaling events, organism-specific biosystem
      IL12-mediated signaling events
    • IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL4-mediated signaling events, organism-specific biosystem
      IL4-mediated signaling events
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Inflammatory bowel disease (IBD), organism-specific biosystem (from KEGG)
      Inflammatory bowel disease (IBD), organism-specific biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
    • Inflammatory bowel disease (IBD), conserved biosystem (from KEGG)
      Inflammatory bowel disease (IBD), conserved biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Interleukin-4 and 13 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-4 and 13 signaling, organism-specific biosystemInterleukin-4 (IL4) is a principal regulatory cytokine during the immune response, crucially important in allergy and asthma (Nelms et al. 1999). When resting T cells are antigen-activated and expand...
    • JAK-STAT signaling, organism-specific biosystem (from KEGG)
      JAK-STAT signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • JAK-STAT signaling, conserved biosystem (from KEGG)
      JAK-STAT signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
      Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
      Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • STAT6-mediated induction of chemokines, organism-specific biosystem (from REACTOME)
      STAT6-mediated induction of chemokines, organism-specific biosystemSignal transducer and activator of transcription 6 (STAT6) may function as a signaling molecule and as a transcription factor. The canonical activation of STAT6 in IL4 and IL13 signaling pathways is ...
    • STING mediated induction of host immune responses, organism-specific biosystem (from REACTOME)
      STING mediated induction of host immune responses, organism-specific biosystemSTING (stimulator of IFN genes; also known as MITA/ERIS/MPYS/TMEM173) is an endoplasmic reticulum (ER) resident, which is required for effective type I IFN production in response to nucleic acids. In...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Signaling events mediated by TCPTP, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by TCPTP, organism-specific biosystem
      Signaling events mediated by TCPTP
    • Th1 and Th2 cell differentiation, organism-specific biosystem (from KEGG)
      Th1 and Th2 cell differentiation, organism-specific biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...
    • Th1 and Th2 cell differentiation, conserved biosystem (from KEGG)
      Th1 and Th2 cell differentiation, conserved biosystemImmunity to different classes of microorganisms is orchestrated by separate lineages of effector T helper (TH)-cells, which differentiate from naive CD4+ precursor cells in response to cues provided ...
    • Th17 cell differentiation, organism-specific biosystem (from KEGG)
      Th17 cell differentiation, organism-specific biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
    • Th17 cell differentiation, conserved biosystem (from KEGG)
      Th17 cell differentiation, conserved biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
    • Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway, organism-specific biosystem
      Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    T-helper 1 cell lineage commitment IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to reactive nitrogen species IEA
    Inferred from Electronic Annotation
    more info
     
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    interleukin-4-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mammary gland epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of type 2 immune response IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of isotype switching to IgE isotypes IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of type I interferon production TAS
    Traceable Author Statement
    more info
     
    regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear chromatin IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    signal transducer and activator of transcription 6
    Names
    STAT, interleukin4-induced
    signal transducer and activator of transcription 6, interleukin-4 induced
    transcription factor IL-4 STAT

    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_021272.1 RefSeqGene

      Range
      5001..21010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178078.1NP_001171549.1  signal transducer and activator of transcription 6 isoform 1

      See identical proteins and their annotated locations for NP_001171549.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1, 2 and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AC023237, AI082533, AK290431
      Consensus CDS
      CCDS8931.1
      UniProtKB/Swiss-Prot
      P42226
      Related
      ENSP00000401486.3, OTTHUMP00000245399, ENST00000454075.7, OTTHUMT00000412252
      Conserved Domains (5) summary
      cd10377
      Location:517646
      SH2_STAT6; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 6 proteins
      smart00964
      Location:2115
      STAT_int; STAT protein, protein interaction domain
      pfam14596
      Location:655847
      STAT6_C; STAT6 C-terminal
      pfam01017
      Location:124271
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:273526
      STAT_bind; STAT protein, DNA binding domain
    2. NM_001178079.1NP_001171550.1  signal transducer and activator of transcription 6 isoform 1

      See identical proteins and their annotated locations for NP_001171550.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AC023237, AI082533, AK291044
      Consensus CDS
      CCDS8931.1
      UniProtKB/Swiss-Prot
      P42226
      UniProtKB/TrEMBL
      A8K4S9
      Related
      ENSP00000438451.2, OTTHUMP00000245397, ENST00000543873.6, OTTHUMT00000412250
      Conserved Domains (5) summary
      cd10377
      Location:517646
      SH2_STAT6; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 6 proteins
      smart00964
      Location:2115
      STAT_int; STAT protein, protein interaction domain
      pfam14596
      Location:655847
      STAT6_C; STAT6 C-terminal
      pfam01017
      Location:124271
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:273526
      STAT_bind; STAT protein, DNA binding domain
    3. NM_001178080.1NP_001171551.1  signal transducer and activator of transcription 6 isoform 2

      See identical proteins and their annotated locations for NP_001171551.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region and uses a downstream start codon compared to variant 1. The resulting protein (isoform 2 )has a shorter N-terminus compared to isoform 1. Variants 4 and 5 encode the same protein.
      Source sequence(s)
      AC023237, AI082533, AK316142
      Consensus CDS
      CCDS53804.1
      UniProtKB/Swiss-Prot
      P42226
      Related
      ENSP00000444530.2, OTTHUMP00000245401, ENST00000537215.6, OTTHUMT00000412254
      Conserved Domains (4) summary
      cd10377
      Location:407536
      SH2_STAT6; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 6 proteins
      pfam01017
      Location:14161
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:163416
      STAT_bind; STAT protein, DNA binding domain
      pfam14596
      Location:545737
      STAT6_C; STAT6 C-terminal
    4. NM_001178081.1NP_001171552.1  signal transducer and activator of transcription 6 isoform 2

      See identical proteins and their annotated locations for NP_001171552.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR, lacks two alternate in-frame exons in the 5' coding region and uses a downstream start codon compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus compared to isoform 1. Variants 4 and 5 encode the same protein.
      Source sequence(s)
      AC023237, AI082533, AK298721
      Consensus CDS
      CCDS53804.1
      UniProtKB/TrEMBL
      B4DQB3
      Related
      ENSP00000445409.2, OTTHUMP00000245400, ENST00000538913.6, OTTHUMT00000412253
      Conserved Domains (4) summary
      cd10377
      Location:407536
      SH2_STAT6; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 6 proteins
      pfam01017
      Location:14161
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:163416
      STAT_bind; STAT protein, DNA binding domain
      pfam14596
      Location:545737
      STAT6_C; STAT6 C-terminal
    5. NM_003153.4NP_003144.3  signal transducer and activator of transcription 6 isoform 1

      See identical proteins and their annotated locations for NP_003144.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AC023237, AI082533, BC005823
      Consensus CDS
      CCDS8931.1
      UniProtKB/Swiss-Prot
      P42226
      Related
      ENSP00000300134.3, OTTHUMP00000245396, ENST00000300134.7, OTTHUMT00000412248
      Conserved Domains (5) summary
      cd10377
      Location:517646
      SH2_STAT6; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 6 proteins
      smart00964
      Location:2115
      STAT_int; STAT protein, protein interaction domain
      pfam14596
      Location:655847
      STAT6_C; STAT6 C-terminal
      pfam01017
      Location:124271
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:273526
      STAT_bind; STAT protein, DNA binding domain

    RNA

    1. NR_033659.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate 5' exon compared to variant 1. This variant is represented as non-coding because use of the 5'-most supported translation start codon, as used in variant #, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC023237, AI082533, AK299094

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

      Range
      57095404..57111413 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538703.3XP_011537005.1  signal transducer and activator of transcription 6 isoform X1

      See identical proteins and their annotated locations for XP_011537005.1

      Conserved Domains (5) summary
      cd10377
      Location:535664
      SH2_STAT6; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 6 proteins
      smart00964
      Location:2115
      STAT_int; STAT protein, protein interaction domain
      pfam01017
      Location:124271
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:273544
      STAT_bind; STAT protein, DNA binding domain
      pfam14596
      Location:673865
      STAT6_C; STAT6 C-terminal
    2. XM_011538705.3XP_011537007.1  signal transducer and activator of transcription 6 isoform X1

      See identical proteins and their annotated locations for XP_011537007.1

      Conserved Domains (5) summary
      cd10377
      Location:535664
      SH2_STAT6; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 6 proteins
      smart00964
      Location:2115
      STAT_int; STAT protein, protein interaction domain
      pfam01017
      Location:124271
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:273544
      STAT_bind; STAT protein, DNA binding domain
      pfam14596
      Location:673865
      STAT6_C; STAT6 C-terminal
    3. XM_011538708.3XP_011537010.1  signal transducer and activator of transcription 6 isoform X2

      See identical proteins and their annotated locations for XP_011537010.1

      Conserved Domains (4) summary
      cd10377
      Location:425554
      SH2_STAT6; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 6 proteins
      pfam01017
      Location:14161
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:163434
      STAT_bind; STAT protein, DNA binding domain
      pfam14596
      Location:563755
      STAT6_C; STAT6 C-terminal
    4. XM_011538707.3XP_011537009.1  signal transducer and activator of transcription 6 isoform X1

      See identical proteins and their annotated locations for XP_011537009.1

      Conserved Domains (5) summary
      cd10377
      Location:535664
      SH2_STAT6; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 6 proteins
      smart00964
      Location:2115
      STAT_int; STAT protein, protein interaction domain
      pfam01017
      Location:124271
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:273544
      STAT_bind; STAT protein, DNA binding domain
      pfam14596
      Location:673865
      STAT6_C; STAT6 C-terminal
    5. XM_011538704.3XP_011537006.1  signal transducer and activator of transcription 6 isoform X1

      See identical proteins and their annotated locations for XP_011537006.1

      Conserved Domains (5) summary
      cd10377
      Location:535664
      SH2_STAT6; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 6 proteins
      smart00964
      Location:2115
      STAT_int; STAT protein, protein interaction domain
      pfam01017
      Location:124271
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:273544
      STAT_bind; STAT protein, DNA binding domain
      pfam14596
      Location:673865
      STAT6_C; STAT6 C-terminal
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