1. Gene
  2. STAT2 - signal transducer and activator of transcription 2 Gene

STAT2 - signal transducer and activator of transcription 2 Gene

Homo sapiens

Also known as P113; IMD44; ISGF-3; PTORCH3; STAT113

Gene ID: 6773 | Gene type: protein coding

About STAT2

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:56,341,597-56,360,107 (from NCBI)

This gene has 42 transcripts (splice variants), 197 orthologues, 6 paralogues and is associated with 5 phenotypes. Ubiquitous expression in spleen (RPKM 31.9), appendix (RPKM 25.0) and 25 other tissues.

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]

STAT2 Products(7)

mRNA Protein Name
NM_001385110.1 NP_001372039.1 signal transducer and activator of transcription 2 isoform 3
NM_001385111.1 NP_001372040.1 signal transducer and activator of transcription 2 isoform 4
NM_001385113.1 NP_001372042.1 signal transducer and activator of transcription 2 isoform 5
NM_001385114.1 NP_001372043.1 signal transducer and activator of transcription 2 isoform 6
NM_001385115.1 NP_001372044.1 signal transducer and activator of transcription 2 isoform 7
NM_005419.4 NP_005410.1 signal transducer and activator of transcription 2 isoform 1
NM_198332.2 NP_938146.1 signal transducer and activator of transcription 2 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
9020188 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
9020188 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
8605877 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8605876 GOA
enables ubiquitin-like protein ligase binding IPI
IPI: Inferred from physical interaction
27782195 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cell surface receptor signaling pathway via JAK-STAT IDA
IDA: Inferred from direct assay
23139419 GOA
involved in defense response to virus IMP
IMP: Inferred from mutant phenotype
23391734 GOA
involved in negative regulation of type I interferon-mediated signaling pathway IMP
IMP: Inferred from mutant phenotype
28165510 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
24065129 GOA
involved in regulation of mitochondrial fission IMP
IMP: Inferred from mutant phenotype
26122121 GOA
involved in regulation of protein phosphorylation IMP
IMP: Inferred from mutant phenotype
26122121 GOA
involved in regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9020188 GOA
involved in type I interferon-mediated signaling pathway IMP
IMP: Inferred from mutant phenotype
23391734 GOA
Cellular Component GO Annotation Evidence Reference Source
part of ISGF3 complex IPI
IPI: Inferred from physical interaction
24065129 GOA
is active in nucleus IDA
IDA: Inferred from direct assay
23139419 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STAT2 Protein Structure

STAT_int

STAT_int: STAT protein, protein interaction domain (2 - 124)

STAT_alpha

STAT_alpha: STAT protein, all-alpha domain (140 - 313)

STAT_bind

STAT_bind: STAT protein, DNA binding domain (316 - 566)

SH2

SH2: SH2 domain (577 - 647)

STAT2_C

STAT2_C: Signal transducer and activator of transcription 2 C terminal (783 - 838)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 851 a.a.
Protein Preferred Names Protein Names

signal transducer and activator of transcription 2

interferon alpha induced transcriptional activator

Related Diseases

Diseases Alias
Pseudo-Torch Syndrome 3

PTORCH3

Immunodeficiency 44

IMD44

Primary Immunodeficiency With Post-Measles-Mumps-Rubella Vaccine Viral Infection

Primary Immunodeficiency With Post-Mmr Vaccine Viral Infection

Mumps

Parotitis Due To Mumps Virus

Mumps Nos

Epidemic Parotitis

Infectious Parotitis

Rabies

Lyssa

Hydrophobia

St Hubert Disease

Torch Syndrome
Dengue Virus

Dengue Virus, Susceptibility To

Dengue Fever, Protection Against

Dengue Fever

Measles

Rubeola

Morbilli

Measles Nos

Koplik Spots

Herpes Simplex

Herpes Simplex Infections

Herpesvirus Hominis Disease

Herpes Simplex Disease

Herpesviral Infection Due To Herpes Simplex

Infections Due To Simplex Virus

Herpes Nos

Thrombotic Microangiopathy

Tma

Vaccinia
Kunjin Encephalitis
Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Immunodeficiency 28

IMD28

Ifngr2 Deficiency

Immunodeficiency 28, Mycobacteriosis, Autosomal Recessive

Immunodeficiency 28, Mycobacteriosis

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar2 Deficiency

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interferon Gamma Receptor 2 Deficiency

Msmd Due To Complete Ifngammar2 Deficiency

Msmd Due To Complete Interferon Gamma Receptor 2 Deficiency

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar2 Deficiency

Autosomal Recessive Msmd Due To Partial Ifngammar2 Deficiency

Autosomal Recessive Msmd Due To Partial Interferon Gamma Receptor 2 Deficiency

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 2 Deficiency

Immunodeficiency, Type 28, Mycobacteriosis

Immunodeficiency 35

Tyrosine Kinase 2 Deficiency

IMD35

Tyk2 Deficiency

Autosomal Recessive Hyper-Ige Syndrome With Atypical Mycobacteriosis

Susceptibility To Infection Due To Tyk2 Deficiency

Hyper-Ige Syndrome With Atypical Mycobacteriosis, Autosomal Recessive

Hies With Atypical Mycobacteriosis, Autosomal Recessive

Autosomal Recessiv Hies With Atypical Mycobacteriosis

Autosomal Recessive Hyper-Ige Syndrome Due To Tyk2 Deficiency

Autosomal Recessive Hies With Atypical Mycobacteriosis

Viral Infectious Disease

Viral Disease

Arbovirus Infections

Virus Infection

Virus Diseases

Viral Infection

Viral Infections

Virus Infections

Microphthalmia With Limb Anomalies

Waardenburg Anophthalmia Syndrome

Ophthalmoacromelic Syndrome

OAS

MLA

Anophthalmia-Syndactyly

Anophthalmia-Syndactyly Syndrome

Anophthalmos With Limb Anomalies

Anophthalmia Waardenburg Syndrome

Anophthalmos-Syndactyly

Ophthalmo-Acromelic Syndrome

Anophthalmia-Waardenburg Syndrome

Anophthalmos-Limb Anomalies Syndrome

Syndactyly-Anophthalmos Syndrome

Microphthalmia, With Limb Anomalies

Dengue Shock Syndrome

Dss

Herpangina

Vesicular Pharyngitis

Dengue Hemorrhagic Fever

Severe Dengue

Dengue Haemorrhagic Fever

Dhf

Severe Dengue Haemorrhagic Fever

Severe Dengue Fever

Dengue Shock Syndrome

West Nile Encephalitis

West-Nile Encephalitis

West Nile Fever

West Nile Fever Encephalitis

West Nile Fever With Encephalitis

West-Nile Fever

Encephalitis, West Nile Fever

Zika Fever

Zika Virus Infection

Zika Virus Disease

Zika Virus

Zika Virus Fever

Mosquito-Borne Viral Fever, Zika

Japanese Encephalitis

Japanese B Encephalitis

Je

Encephalitis Japanese

Encephalitis, Japanese

Russian Autumnal Encephalitis

Je - [Japanese Encephalitis]

Japanese Encephalitis Virus Disease

Jbe - [Japanese B Encephalitis}

B Type Encephalitis

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome

Cree Encephalitis

Aicardi-Goutières Syndrome

Encephalopathy With Basal Ganglia Calcification

Ags

Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

Pseudotoxoplasmosis Syndrome

Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome 1

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Chronic Mucocutaneous Candidiasis

Candidiasis, Chronic Mucocutaneous

Cmc

Candidiasis Chronic Mucocutaneous

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta STAT2 VGNC VGNC:77905
Felis catus STAT2 VGNC VGNC:65760
Rattus norvegicus STAT2 RGD RGD:1311649
Bos taurus STAT2 VGNC VGNC:35370
Mus musculus STAT2 MGD MGI:103039
Canis familiaris STAT2 VGNC VGNC:108218
Others STAT2 NCBI