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

    Gene ID: 6773, updated on 4-Oct-2020

    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
    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

    Genomic context

    See STAT2 in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (56341597..56360161, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56735381..56754058, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene canopy FGF signaling regulator 2 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
    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
    GeneReviews: Not available
    Genome-wide association study in Han Chinese identifies three novel loci for human height.
    GeneReviews: Not available
    Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
    GeneReviews: Not available
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    GeneReviews: Not available
    Immunodeficiency 44
    MedGen: C4225260 OMIM: 616636 GeneReviews: Not available
    Compare labs
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    GeneReviews: Not available
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    GeneReviews: Not available
    PSEUDO-TORCH SYNDROME 3
    MedGen: CN280969 OMIM: 618886 GeneReviews: Not available
    not available

    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
    JAK-STAT cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    defense response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of mitochondrial fission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    response to peptide hormone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    type I interferon signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    type I interferon signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    type I interferon signaling pathway TAS
    Traceable Author Statement
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    nuclear chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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)

    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
    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
    3. NM_001385113.1NP_001372042.1  signal transducer and activator of transcription 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC025574
    4. NM_001385114.1NP_001372043.1  signal transducer and activator of transcription 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC025574
    5. NM_001385115.1NP_001372044.1  signal transducer and activator of transcription 2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC025574
    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
      pfam01017
      Location:142314
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:316565
      STAT_bind; STAT protein, DNA binding domain
      pfam12188
      Location:783838
      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 Updated Annotation Release 109.20200815

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

      Range
      56341597..56360161 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538697.2XP_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
      pfam01017
      Location:142314
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:316573
      STAT_bind; STAT protein, DNA binding domain
      pfam12188
      Location:791846
      STAT2_C; Signal transducer and activator of transcription 2 C terminal
    2. XM_011538698.3XP_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
    3. XM_017019904.2XP_016875393.1  signal transducer and activator of transcription 2 isoform X5

      Related
      ENST00000652091.1
    4. XM_011538700.2XP_011537002.1  signal transducer and activator of transcription 2 isoform X4

      Conserved Domains (4) summary
      cd10373
      Location:320470
      SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins
      pfam01017
      Location:1870
      STAT_alpha; STAT protein, all-alpha domain
      pfam02864
      Location:72329
      STAT_bind; STAT protein, DNA binding domain
      pfam12188
      Location:547602
      STAT2_C; Signal transducer and activator of transcription 2 C terminal
    5. XM_011538699.3XP_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

    RNA

    1. XR_001748856.1 RNA Sequence

      Related
      ENST00000650805.1
    2. XR_001748857.1 RNA Sequence

      Related
      ENST00000651805.1
    3. XR_002957375.1 RNA Sequence

      Related
      ENST00000652741.1
    4. XR_001748858.2 RNA Sequence

    5. XR_002957376.1 RNA Sequence

      Related
      ENST00000651301.1
    6. XR_245953.3 RNA Sequence

      Related
      ENST00000418572.7
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