U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 6778, updated on 29-Oct-2024

    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; AllianceGenome:HGNC:11368
    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
    HIES6; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STAT6 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57095408..57111362, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57063280..57079195, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57489191..57505145, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57423222-57424059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6521 Neighboring gene myosin IA Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:57440635-57441834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6522 Neighboring gene nuclear envelope integral membrane protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4571 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57485501-57485781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4572 Neighboring gene Sharpr-MPRA regulatory region 4597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4573 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57488515-57489045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57489590-57490426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57493803-57494325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57495608-57496108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57496109-57496609 Neighboring gene NGFI-A binding protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57504271-57505218 Neighboring gene uncharacterized LOC124902946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57505219-57506164 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6527 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57521273-57521926 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57527325-57528080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:57540016-57540944 Neighboring gene LDL receptor related protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57542802-57543729 Neighboring gene LRP1 antisense RNA Neighboring gene Sharpr-MPRA regulatory region 9665 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:57566901-57567114 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:57570347-57571546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57586343-57586842 Neighboring gene microRNA 1228

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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
    Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections
    MedGen: C5848786 OMIM: 620532 GeneReviews: Not available
    not available

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in T-helper 1 cell lineage commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell surface receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell surface receptor signaling pathway via JAK-STAT IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell surface receptor signaling pathway via JAK-STAT NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to reactive nitrogen species IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytokine-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in defense response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in growth hormone receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in interleukin-4-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in interleukin-4-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in isotype switching to IgE isotypes IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary gland epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary gland morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of type 2 immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of isotype switching to IgE isotypes IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of mast cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to peptide hormone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    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 6
    Names
    STAT, interleukin4-induced
    signal transducer and activator of transcription 6, interleukin-4 induced
    transcription factor IL-4 STAT

    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_021272.2 RefSeqGene

      Range
      25778..41732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1369

    mRNA and Protein(s)

    1. NM_001178078.2NP_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
      A8K316, B7ZA27, F5GXI9, P42226, Q5FBW5, Q71UP4
      UniProtKB/TrEMBL
      A8K4S9, B2R680
      Related
      ENSP00000401486.3, ENST00000454075.7
      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_001178079.2NP_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
      A8K316, B7ZA27, F5GXI9, P42226, Q5FBW5, Q71UP4
      UniProtKB/TrEMBL
      A8K4S9, B2R680
      Related
      ENSP00000438451.2, ENST00000543873.6
      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_001178080.2NP_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, AK316142
      Consensus CDS
      CCDS53804.1
      UniProtKB/TrEMBL
      B7ZAC1
      Related
      ENSP00000444530.2, ENST00000537215.6
      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_001178081.2NP_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
      B7ZAC1
      Related
      ENSP00000445409.2, ENST00000538913.6
      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_003153.5NP_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
      A8K316, B7ZA27, F5GXI9, P42226, Q5FBW5, Q71UP4
      UniProtKB/TrEMBL
      A8K4S9, B2R680
      Related
      ENSP00000300134.3, ENST00000300134.8
      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_033659.2 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
      Related
      ENST00000554764.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      57095408..57111362 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429473.1XP_047285429.1  signal transducer and activator of transcription 6 isoform X1

      UniProtKB/Swiss-Prot
      A8K316, B7ZA27, F5GXI9, P42226, Q5FBW5, Q71UP4
      Related
      ENSP00000452203.2, ENST00000553397.6
    2. XM_047429475.1XP_047285431.1  signal transducer and activator of transcription 6 isoform X1

      UniProtKB/Swiss-Prot
      A8K316, B7ZA27, F5GXI9, P42226, Q5FBW5, Q71UP4
      Related
      ENSP00000491116.2, ENST00000640254.2
    3. XM_047429474.1XP_047285430.1  signal transducer and activator of transcription 6 isoform X1

      UniProtKB/Swiss-Prot
      A8K316, B7ZA27, F5GXI9, P42226, Q5FBW5, Q71UP4
      Related
      ENSP00000450732.2, ENST00000553275.2
    4. XM_047429477.1XP_047285433.1  signal transducer and activator of transcription 6 isoform X3

    5. XM_047429476.1XP_047285432.1  signal transducer and activator of transcription 6 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      57063280..57079195 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373093.1XP_054229068.1  signal transducer and activator of transcription 6 isoform X1

      UniProtKB/Swiss-Prot
      A8K316, B7ZA27, F5GXI9, P42226, Q5FBW5, Q71UP4
    2. XM_054373095.1XP_054229070.1  signal transducer and activator of transcription 6 isoform X1

      UniProtKB/Swiss-Prot
      A8K316, B7ZA27, F5GXI9, P42226, Q5FBW5, Q71UP4
    3. XM_054373094.1XP_054229069.1  signal transducer and activator of transcription 6 isoform X1

      UniProtKB/Swiss-Prot
      A8K316, B7ZA27, F5GXI9, P42226, Q5FBW5, Q71UP4
    4. XM_054373097.1XP_054229072.1  signal transducer and activator of transcription 6 isoform X3

    5. XM_054373096.1XP_054229071.1  signal transducer and activator of transcription 6 isoform X2