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

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: mouse all
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Genomic context

Location:: 12q13.3

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (56341597..56360107, complement)
RS_2023_10	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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ISGF3 and STAT2/IRF9 Control Basal and IFN-Induced Transcription through Genome-Wide Binding of Phosphorylated and Unphosphorylated Complexes to Common ISRE-Containing ISGs.
Title: ISGF3 and STAT2/IRF9 Control Basal and IFN-Induced Transcription through Genome-Wide Binding of Phosphorylated and Unphosphorylated Complexes to Common ISRE-Containing ISGs.
Investigation of the impact of AXL, TLR3, and STAT2 in congenital Zika syndrome through genetic polymorphisms and protein-protein interaction network analyses.
Title: Investigation of the impact of AXL, TLR3, and STAT2 in congenital Zika syndrome through genetic polymorphisms and protein-protein interaction network analyses.
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
Title: Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
STAT2 act a prognostic biomarker and associated with immune infiltration in kidney renal clear cell carcinoma.
Title: STAT2 act a prognostic biomarker and associated with immune infiltration in kidney renal clear cell carcinoma.
circCAPRIN1 interacts with STAT2 to promote tumor progression and lipid synthesis via upregulating ACC1 expression in colorectal cancer.
Title: circCAPRIN1 interacts with STAT2 to promote tumor progression and lipid synthesis via upregulating ACC1 expression in colorectal cancer.
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency.
Title: Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency.
Exposing the Two Contrasting Faces of STAT2 in Inflammation.
Title: Exposing the Two Contrasting Faces of STAT2 in Inflammation.
Initial activation of STAT2 induced by IAV infection is critical for innate antiviral immunity.
Title: Initial activation of STAT2 induced by IAV infection is critical for innate antiviral immunity.
Increased IRF9-STAT2 Signaling Leads to Adaptive Resistance toward Targeted Therapy in Melanoma by Restraining GSDME-Dependent Pyroptosis.
Title: Increased IRF9-STAT2 Signaling Leads to Adaptive Resistance toward Targeted Therapy in Melanoma by Restraining GSDME-Dependent Pyroptosis.
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
Title: Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.

Submit: New GeneRIF Correction See all GeneRIFs (121)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

RH99119 (e-PCR)
- UniSTS:89141

RH40514 (e-PCR)
- UniSTS:88665

G67915 (e-PCR)
- UniSTS:225647

G67921 (e-PCR)
- UniSTS:225648

G67923 (e-PCR)
- UniSTS:225649

G67924 (e-PCR)
- UniSTS:225650

G67925 (e-PCR)
- UniSTS:225651

G67927 (e-PCR)
- UniSTS:225652

D1S1425 (e-PCR)
- UniSTS:149621

G67917 (e-PCR)
- UniSTS:225653

G67916 (e-PCR)
- UniSTS:225654

G67920 (e-PCR)
- UniSTS:225655

G67922 (e-PCR)
- UniSTS:225656

G67918 (e-PCR)
- UniSTS:225657

G67919 (e-PCR)
- UniSTS:225658

G67926 (e-PCR)
- UniSTS:225659

RH36905 (e-PCR)
- UniSTS:87932

D12S1878 (e-PCR)
- UniSTS:43396

GDB:335751 (e-PCR)
- UniSTS:156601

STAT2_258 (e-PCR)
- UniSTS:281034

STS-L27050 (e-PCR)
- UniSTS:73938

RH80815 (e-PCR)
- UniSTS:90585

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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	IDA Inferred from Direct Assay more info	PubMed
involved_in cell surface receptor signaling pathway via JAK-STAT	NAS Non-traceable Author Statement more info	PubMed
involved_in defense response	IBA Inferred from Biological aspect of Ancestor more info
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	IDA Inferred from Direct Assay 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 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
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in response to peptide hormone	IBA Inferred from Biological aspect of Ancestor more info
involved_in type I interferon-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in type I interferon-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of ISGF3 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ISGF3 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
part_of chromatin	IC Inferred by Curator more info	PubMed
part_of 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	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 plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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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)

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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

NG_046314.1 RefSeqGene

Range

5147..23657

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1329

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC025574

UniProtKB/TrEMBL

R9QDW3, R9QDW5, R9QDY3, R9QE44, R9QE53, R9QE71, R9QFA6, R9QGC0

Conserved Domains (5) summary

cd10373
Location:545 → 695

SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins

smart00964
Location:2 → 120

STAT_int; STAT protein, protein interaction domain

cd16852
Location:137 → 308

STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)

cl28920
Location:312 → 464

STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)

pfam12188
Location:775 → 827

STAT2_C; Signal transducer and activator of transcription 2 C terminal
NM_001385111.1 → NP_001372040.1 signal transducer and activator of transcription 2 isoform 4

Status: REVIEWED

Source sequence(s)

AC025574

Consensus CDS

CCDS91707.1

UniProtKB/TrEMBL

A0A494C164, R9QE44, R9QFA6

Related

ENSP00000498876.1, ENST00000651915.1

Conserved Domains (5) summary

cd10373
Location:523 → 673

SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins

smart00964
Location:2 → 124

STAT_int; STAT protein, protein interaction domain

cd16852
Location:141 → 312

STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)

cl28920
Location:316 → 446

STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)

pfam12188
Location:753 → 805

STAT2_C; Signal transducer and activator of transcription 2 C terminal
NM_001385113.1 → NP_001372042.1 signal transducer and activator of transcription 2 isoform 5

Status: REVIEWED

Source sequence(s)

AC025574

UniProtKB/TrEMBL

A0A8V8TLJ4

Related

ENSP00000513600.1, ENST00000698193.1

Conserved Domains (5) summary

cd10373
Location:556 → 706

SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins

smart00964
Location:2 → 124

STAT_int; STAT protein, protein interaction domain

cd16852
Location:141 → 312

STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)

cl28920
Location:316 → 475

STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)

pfam12188
Location:786 → 805

STAT2_C; Signal transducer and activator of transcription 2 C terminal
NM_001385114.1 → NP_001372043.1 signal transducer and activator of transcription 2 isoform 6

Status: REVIEWED

Source sequence(s)

AC025574

UniProtKB/TrEMBL

R9QDW3, R9QDW5, R9QDY3, R9QE44, R9QE53, R9QE71, R9QFA6, R9QGC0

Related

ENST00000698187.1

Conserved Domains (5) summary

cd10373
Location:549 → 699

SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins

smart00964
Location:2 → 124

STAT_int; STAT protein, protein interaction domain

cd16852
Location:141 → 312

STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)

cl28920
Location:316 → 468

STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)

pfam12188
Location:779 → 831

STAT2_C; Signal transducer and activator of transcription 2 C terminal
NM_001385115.1 → NP_001372044.1 signal transducer and activator of transcription 2 isoform 7

Status: REVIEWED

Source sequence(s)

AC025574

UniProtKB/TrEMBL

R9QDW3, R9QDW5, R9QDY3, R9QE44, R9QE53, R9QE71, R9QFA6, R9QGC0

Conserved Domains (5) summary

cd10373
Location:542 → 692

SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins

smart00964
Location:2 → 120

STAT_int; STAT protein, protein interaction domain

cd16852
Location:137 → 308

STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)

cl28920
Location:312 → 471

STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)

pfam12188
Location:772 → 824

STAT2_C; Signal transducer and activator of transcription 2 C terminal
NM_005419.4 → NP_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

B4DLC7, G3V2M6, P52630, Q16430, Q16431, Q9UDL4

UniProtKB/TrEMBL

R9QDW3, R9QDW5, R9QDY3, R9QE44, R9QE53, R9QE65, R9QE71, R9QFA6, R9QGC0

Related

ENSP00000315768.4, ENST00000314128.9

Conserved Domains (5) summary

cd10373
Location:556 → 706

SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins

smart00964
Location:2 → 124

STAT_int; STAT protein, protein interaction domain

cd16852
Location:141 → 312

STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)

cl28920
Location:316 → 475

STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)

pfam12188
Location:786 → 838

STAT2_C; Signal transducer and activator of transcription 2 C terminal
NM_198332.2 → NP_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/TrEMBL

R9QDW3, R9QDW5, R9QDY3, R9QE44, R9QE53, R9QE71, R9QFA6, R9QGC0

Related

ENSP00000450751.1, ENST00000557235.5

Conserved Domains (5) summary

cd10373
Location:552 → 702

SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins

smart00964
Location:2 → 120

STAT_int; STAT protein, protein interaction domain

pfam01017
Location:138 → 310

STAT_alpha; STAT protein, all-alpha domain

pfam02864
Location:312 → 561

STAT_bind; STAT protein, DNA binding domain

pfam12188
Location:779 → 834

STAT2_C; Signal transducer and activator of transcription 2 C terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

56341597..56360107 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

R9QDW3, R9QDW5, R9QDY3, R9QE44, R9QE53, R9QE71, R9QFA6, R9QGC0

Conserved Domains (5) summary

cd10373
Location:560 → 710

SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins

smart00964
Location:2 → 120

STAT_int; STAT protein, protein interaction domain

pfam01017
Location:138 → 310

STAT_alpha; STAT protein, all-alpha domain

pfam02864
Location:312 → 569

STAT_bind; STAT protein, DNA binding domain

pfam12188
Location:787 → 842

STAT2_C; Signal transducer and activator of transcription 2 C terminal
XM_011538697.3 → XP_011536999.1 signal transducer and activator of transcription 2 isoform X1

UniProtKB/TrEMBL

R9QDW3, R9QDW5, R9QDY3, R9QE44, R9QE53, R9QE71, R9QFA6, R9QGC0

Conserved Domains (5) summary

cd10373
Location:564 → 714

SH2_STAT2; Src homology 2 (SH2) domain found in signal transducer and activator of transcription (STAT) 2 proteins

smart00964
Location:2 → 124

STAT_int; STAT protein, protein interaction domain

cd16852
Location:141 → 312

STAT2_CCD; Coiled-coil domain of Signal Transducer and Activator of Transcription 2 (STAT2)

cl28920
Location:316 → 475

STAT_DBD; DNA-binding domain of Signal Transducer and Activator of Transcription (STAT)

pfam12188
Location:794 → 846

STAT2_C; Signal transducer and activator of transcription 2 C terminal
XM_047429469.1 → XP_047285425.1 signal transducer and activator of transcription 2 isoform X5

Related

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

UniProtKB/TrEMBL

A0JLQ9

Conserved Domains (4) summary

smart00964
Location:2 → 124

STAT_int; STAT protein, protein interaction domain

pfam01017
Location:142 → 314

STAT_alpha; STAT protein, all-alpha domain

pfam02864
Location:316 → 573

STAT_bind; STAT protein, DNA binding domain

cl15255
Location:564 → 584

SH2; Src homology 2 (SH2) domain
XM_047429468.1 → XP_047285424.1 signal transducer and activator of transcription 2 isoform X4
XM_047429470.1 → XP_047285426.1 signal transducer and activator of transcription 2 isoform X6
XM_047429471.1 → XP_047285427.1 signal transducer and activator of transcription 2 isoform X7

Related

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

RNA

XR_007063122.1 RNA Sequence
XR_245953.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

56309243..56327794 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054373086.1 → XP_054229061.1 signal transducer and activator of transcription 2 isoform X2
XM_054373085.1 → XP_054229060.1 signal transducer and activator of transcription 2 isoform X1
XM_054373089.1 → XP_054229064.1 signal transducer and activator of transcription 2 isoform X5
XM_054373087.1 → XP_054229062.1 signal transducer and activator of transcription 2 isoform X3
XM_054373088.1 → XP_054229063.1 signal transducer and activator of transcription 2 isoform X4
XM_054373090.1 → XP_054229065.1 signal transducer and activator of transcription 2 isoform X6
XM_054373091.1 → XP_054229066.1 signal transducer and activator of transcription 2 isoform X7
XM_054373092.1 → XP_054229067.1 signal transducer and activator of transcription 2 isoform X7