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    STAT2 signal transducer and activator of transcription 2 [ Homo sapiens (human) ]

    Gene ID: 6773, updated on 22-May-2022

    Summary

    Official Symbol
    STAT2provided by HGNC
    Official Full Name
    signal transducer and activator of transcription 2provided by HGNC
    Primary source
    HGNC:HGNC:11363
    See related
    Ensembl:ENSG00000170581 MIM:600556; AllianceGenome:HGNC:11363
    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
    P113; IMD44; ISGF-3; PTORCH3; STAT113
    Summary
    The protein encoded by this gene is a member of the STAT protein family. 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. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Ubiquitous expression in spleen (RPKM 31.9), appendix (RPKM 25.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STAT2 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56341597..56360107, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56309243..56327794, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56735381..56753891, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene poly(A) specific ribonuclease subunit PAN2 Neighboring gene interleukin 23 subunit alpha Neighboring gene RNA, U7 small nuclear 40 pseudogene Neighboring gene apolipoprotein F Neighboring gene apolipoprotein N, pseudogene

    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
    Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
    MedGen: C4225260 OMIM: 616636 GeneReviews: Not available
    Compare labs
    Pseudo-TORCH syndrome 3
    MedGen: C5394391 OMIM: 618886 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
    EBI GWAS Catalog
    Genome-wide association study in Han Chinese identifies three novel loci for human height.
    EBI GWAS Catalog
    Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 activates both STAT1 and STAT2 in primary human monocyte-derived dendritic cells PubMed
    Nef nef TRAF2 and TRAF6 proteins are required for the HIV-1 Nef-induced tyrosine phosphorylation of STAT1 and STAT2 proteins. Both myristoylation and acidic cluster of Nef are essential to induce the tyrosine phosphorylation 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

    Homology

    Clone Names

    • MGC59816

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in defense response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of type I interferon-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IC
    Inferred by Curator
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in receptor signaling pathway via JAK-STAT IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in receptor signaling pathway via JAK-STAT IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to peptide hormone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in type I interferon signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in type I interferon signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of ISGF3 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of RNA polymerase II transcription regulator complex IC
    Inferred by Curator
    more info
    PubMed 
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    signal transducer and activator of transcription 2
    Names
    interferon alpha induced transcriptional activator
    signal transducer and activator of transcription 2, 113kDa

    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_046314.1 RefSeqGene

      Range
      5147..23657
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1329

    mRNA and Protein(s)

    1. NM_001385110.1NP_001372039.1  signal transducer and activator of transcription 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC025574
      Conserved Domains (5) summary
      cd10373
      Location:545695
      SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
      smart00964
      Location:2120
      STAT_int; STAT protein, protein interaction domain
      cd16852
      Location:137308
      STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)
      cl28920
      Location:312464
      STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)
      pfam12188
      Location:775827
      STAT2_C; Signal transducer and activator of transcription 2 C terminal
    2. NM_001385111.1NP_001372040.1  signal transducer and activator of transcription 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC025574
      Related
      ENSP00000498876.1, ENST00000651915.1
      Conserved Domains (5) summary
      cd10373
      Location:523673
      SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
      smart00964
      Location:2124
      STAT_int; STAT protein, protein interaction domain
      cd16852
      Location:141312
      STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)
      cl28920
      Location:316446
      STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)
      pfam12188
      Location:753805
      STAT2_C; Signal transducer and activator of transcription 2 C terminal
    3. NM_001385113.1NP_001372042.1  signal transducer and activator of transcription 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC025574
      Conserved Domains (5) summary
      cd10373
      Location:556706
      SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
      smart00964
      Location:2124
      STAT_int; STAT protein, protein interaction domain
      cd16852
      Location:141312
      STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)
      cl28920
      Location:316475
      STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)
      pfam12188
      Location:786805
      STAT2_C; Signal transducer and activator of transcription 2 C terminal
    4. NM_001385114.1NP_001372043.1  signal transducer and activator of transcription 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC025574
      Related
      ENST00000651078.1
      Conserved Domains (5) summary
      cd10373
      Location:549699
      SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
      smart00964
      Location:2124
      STAT_int; STAT protein, protein interaction domain
      cd16852
      Location:141312
      STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)
      cl28920
      Location:316468
      STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)
      pfam12188
      Location:779831
      STAT2_C; Signal transducer and activator of transcription 2 C terminal
    5. NM_001385115.1NP_001372044.1  signal transducer and activator of transcription 2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC025574
      Conserved Domains (5) summary
      cd10373
      Location:542692
      SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
      smart00964
      Location:2120
      STAT_int; STAT protein, protein interaction domain
      cd16852
      Location:137308
      STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)
      cl28920
      Location:312471
      STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)
      pfam12188
      Location:772824
      STAT2_C; Signal transducer and activator of transcription 2 C terminal
    6. NM_005419.4NP_005410.1  signal transducer and activator of transcription 2 isoform 1

      See identical proteins and their annotated locations for NP_005410.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC051284, DB482283
      Consensus CDS
      CCDS8917.1
      UniProtKB/Swiss-Prot
      P52630
      UniProtKB/TrEMBL
      R9QE65
      Related
      ENSP00000315768.4, ENST00000314128.9
      Conserved Domains (5) summary
      cd10373
      Location:556706
      SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
      smart00964
      Location:2124
      STAT_int; STAT protein, protein interaction domain
      cd16852
      Location:141312
      STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)
      cl28920
      Location:316475
      STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)
      pfam12188
      Location:786838
      STAT2_C; Signal transducer and activator of transcription 2 C terminal
    7. NM_198332.2NP_938146.1  signal transducer and activator of transcription 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (2) lacks an internal 4-aa segment, compared to isoform 1.
      Source sequence(s)
      AK296939, BC051284
      Consensus CDS
      CCDS55836.1
      UniProtKB/Swiss-Prot
      P52630
      Related
      ENSP00000450751.1, ENST00000557235.5
      Conserved Domains (5) summary
      cd10373
      Location:552702
      SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
      smart00964
      Location:2120
      STAT_int; STAT protein, protein interaction domain
      pfam01017
      Location:138310
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:312561
      STAT_bind; STAT protein, DNA binding domain
      pfam12188
      Location:779834
      STAT2_C; Signal transducer and activator of transcription 2 C terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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
      56341597..56360107 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538698.4XP_011537000.1  signal transducer and activator of transcription 2 isoform X2

      Conserved Domains (5) summary
      cd10373
      Location:560710
      SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
      smart00964
      Location:2120
      STAT_int; STAT protein, protein interaction domain
      pfam01017
      Location:138310
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:312569
      STAT_bind; STAT protein, DNA binding domain
      pfam12188
      Location:787842
      STAT2_C; Signal transducer and activator of transcription 2 C terminal
    2. XM_011538697.3XP_011536999.1  signal transducer and activator of transcription 2 isoform X1

      Conserved Domains (5) summary
      cd10373
      Location:564714
      SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
      smart00964
      Location:2124
      STAT_int; STAT protein, protein interaction domain
      cd16852
      Location:141312
      STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)
      cl28920
      Location:316475
      STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)
      pfam12188
      Location:794846
      STAT2_C; Signal transducer and activator of transcription 2 C terminal
    3. XM_047429469.1XP_047285425.1  signal transducer and activator of transcription 2 isoform X5

      Related
      ENST00000556539.5
    4. XM_011538699.4XP_011537001.1  signal transducer and activator of transcription 2 isoform X3

      Conserved Domains (4) summary
      smart00964
      Location:2124
      STAT_int; STAT protein, protein interaction domain
      pfam01017
      Location:142314
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:316573
      STAT_bind; STAT protein, DNA binding domain
      cl15255
      Location:564584
      SH2; Src homology 2 (SH2) domain
    5. XM_047429468.1XP_047285424.1  signal transducer and activator of transcription 2 isoform X4

    6. XM_047429470.1XP_047285426.1  signal transducer and activator of transcription 2 isoform X6

    7. XM_047429471.1XP_047285427.1  signal transducer and activator of transcription 2 isoform X7

      Related
      ENSP00000387354.2, ENST00000418572.7
    8. XM_047429472.1XP_047285428.1  signal transducer and activator of transcription 2 isoform X7

    RNA

    1. XR_007063122.1 RNA Sequence

    2. XR_245953.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56309243..56327794 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)