Format

Send to:

Choose Destination

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

Gene ID: 6778, updated on 7-Oct-2018

Summary

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

Genomic context

See STAT6 in Genome Data Viewer
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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from BioSystems

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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 
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
 

General protein information

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

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_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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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
Support Center