STAT2 - signal transducer and activator of transcription 2 Gene

中文名称：信号转导和转录激活因子 2

种属: Homo sapiens

同用名: P113; IMD44; ISGF-3; PTORCH3; STAT113

基因 ID: 6773 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是 STAT 蛋白质家族的成员。响应于细胞因子和生长因子，STAT 家族成员被受体相关激酶磷酸化，然后形成同二聚体或异二聚体，转移到细胞核，在那里它们充当转录激活剂。作为对干扰素 (IFN) 的反应，该蛋白与 STAT1 和 IFN 调节因子家族蛋白 p48 (ISGF3G) 形成复合物，其中该蛋白充当反式激活因子，但缺乏直接结合 DNA 的能力。该蛋白质介导先天性抗病毒活性。该基因的突变导致免疫缺陷 44。[RefSeq 提供，2020 年 8 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA-binding transcription factor activity	IDA IDA: 通过直接分析推断	9020188	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	9020188	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	8605877	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	8605876	GOA
enables ubiquitin-like protein ligase binding	IPI IPI: 通过物理相互作用推断	27782195	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cell surface receptor signaling pathway via JAK-STAT	IDA IDA: 通过直接分析推断	23139419	GOA
involved in defense response to virus	IMP IMP: 通过突变表型推断	23391734	GOA
involved in negative regulation of type I interferon-mediated signaling pathway	IMP IMP: 通过突变表型推断	28165510	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	24065129	GOA
involved in regulation of mitochondrial fission	IMP IMP: 通过突变表型推断	26122121	GOA
involved in regulation of protein phosphorylation	IMP IMP: 通过突变表型推断	26122121	GOA
involved in regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	9020188	GOA
involved in type I interferon-mediated signaling pathway	IMP IMP: 通过突变表型推断	23391734	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of ISGF3 complex	IPI IPI: 通过物理相互作用推断	24065129	GOA
is active in nucleus	IDA IDA: 通过直接分析推断	23139419	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

STAT2 蛋白结构

STAT_int

STAT_alpha

STAT_bind

SH2

STAT2_C

0
200
400
600
800
851 a.a.

蛋白主名

其他名称

signal transducer and activator of transcription 2

interferon alpha induced transcriptional activator

关联疾病

疾病名称

别名

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

疾病名称	别名
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

目录号	产品名	作用方式	纯度	Phase
HY-P99666	Interferon alfa	Agonist	≥95.0%	Phase 4

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13887	STAT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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