1. Gene
  2. IFNGR2 - interferon gamma receptor 2 Gene

IFNGR2 - interferon gamma receptor 2 Gene

中文名称:干扰素γ受体 2

种属: Homo sapiens

同用名: AF-1; IFGR2; IMD28; IFNGT1

基因 ID: 3460 | 基因类型: protein coding

关于 IFNGR2

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:33,402,882-33,437,516 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 133 orthologues, 11 paralogues and is associated with 4 phenotypes. Ubiquitous expression in placenta (RPKM 30.0), appendix (RPKM 25.4) and 25 other tissues.

功能概要

该基因 (IFNGR2) 编码γ干扰素受体的非配体结合β链。人干扰素-γ 受体是 IFNGR1 和 IFNGR2 的异二聚体。 IFNGR2 中的缺陷是分枝杆菌病 (MSMD) 孟德尔易感性的一个原因,MSMD 也称为家族性播散性非典型分枝杆菌感染。 MSMD 是一种具有常染色体隐性遗传、常染色体显性遗传或 X 连锁遗传的遗传异质性疾病。[RefSeq 提供,2008 年 7 月]

This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial Infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]

IFNGR2 基因产物(2)

mRNA Protein Name
NM_001329128.2 NP_001316057.1 interferon gamma receptor 2 isoform 1 precursor
NM_005534.4 NP_005525.2 interferon gamma receptor 2 isoform 2 precursor
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 protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables type II interferon receptor activity IDA
IDA: 通过直接分析推断
20015550 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in type III interferon-mediated signaling pathway IDA
IDA: 通过直接分析推断
20015550 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in plasma membrane IDA
IDA: 通过直接分析推断
20015550 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

IFNGR2 蛋白结构

Tissue_fac

Tissue_fac: Tissue factor (10 - 126)

Interfer-bind

Interfer-bind: Interferon-alpha/beta receptor, fibronectin type III (140 - 237)

  • 0
  • 100
  • 200
  • 300
  • 337 a.a.
蛋白主名 其他名称

interferon gamma receptor 2

IFN-gamma receptor 2

重组 IFNGR2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7367 IFN-gamma R2 Protein, Human (CHO) P38484 (S28-Q247) ≥95%

关联疾病

疾病名称 别名
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

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

Autosomal Dominant Msmd Due To Partial Ifngammar2 Deficiency

Autosomal Dominant Msmd Due To Partial Interferon Gamma Receptor 2 Deficiency

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

Mycobacterium Abscessus
Tuberculous Salpingitis
Axillary Adenitis

Axillary Lymphadenitis

Immunodeficiency 27b

Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

IMD27B

Immunodeficiency 27b, Mycobacteriosis, Autosomal Dominant

Ifngr1 Deficiency, Autosomal Dominant

Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency

Autosomal Dominant Msmd Due To Partial Ifngammar1 Deficiency

Autosomal Dominant Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency

Immunodeficiency 27b, Mycobacteriosis, Ad

Autosomal Dominant Ifngr1 Deficiency

Autosomal Dominant Immunodeficiency 27b, Mycobacteriosis

Immunodeficiency, Type 27b, Mycobacteriosis, Autosomal Dominant

Lepromatous Leprosy

Leprosy, Lepromatous

Type L Leprosy

Leprosy Lepromatous

Aneurysm, Intracranial Berry, 12

ANIB12

Intracranial Berry Aneurysm 12

Sezary'S Disease

Sezary Syndrome

Sézary Syndrome

Sezary'S Lymphoma

Sezary Disease

Sezary Erythroderma

Sezary Lymphoma

Silo Filler'S Disease

Silo Filler Disease

Silo-Fillers' Disease

Opportunistic Bacterial Infectious Disease
Nocardiosis

Nocardia Infection

Nocardia Infections

Nocardia Infectious Disease

Lung Nocardiosis

Nocardiasis

Nocardiosis Nos

Macs Syndrome

Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis

Mycobacterium Avium Complex Disease

Rin2 Syndrome

Mycobacterium Avium-Intracellulare Infection

Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis

Mycobacterium Avium Complex

Mycobacterium Avium Infection

Infection Due To Mycobacterium Intracellulare

Mac Disease

Macrocephaly-Alopecia-Cutis Laxa-Scoliosis Syndrome

Rin2 Deficiency

Tall Forehead-Sparse Hair-Skin Hyperextensibility-Scoliosis Syndrome

MACS

Macrocephaly Alopecia Cutis Laxa And Scoliosis Syndrome

Immunodeficiency 21

Monocytopenia And Mycobacterial Infection Syndrome

Monomac

Gata2 Deficiency

Monocytopenia With Susceptibility To Infections

Dcml

IMD21

Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency

Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections

Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections

Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency

Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome

Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia

Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections

Monocyte - B - Natural Killer - Dendritic Cell Deficiency

Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections

Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency

Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia

Sarcoidosis 1

Sarcoidosis

Boeck Sarcoid

Besnier-Boeck-Schaumann Disease

SS1

Sarcoidosis, Susceptibility To, 1

Lymphogranulomatosis

Hodgkin Disease

Boeck'S Disease

Boeck'S Sarcoid

Schaumann'S Disease Or Syndrome

Hutchinson-Boeck Disease Or Syndrome

Immunodeficiency 27a

IMD27A

Autosomal Recessive Ifngr1 Deficiency

Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency

Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency

Autosomal Recessive Msmd Due To Partial Ifngammar1 Deficiency

Autosomal Recessive Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency

Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive

Ifngr1 Deficiency, Autosomal Recessive

Immunodeficiency 27a, Mycobacteriosis, Ar

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar1 Deficiency

Msmd Due To Complete Ifngammar1 Deficiency

Msmd Due To Complete Interferon Gamma Receptor 1 Deficiency

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interferon Gamma Receptor 1 Deficiency

Familial Disseminated Atypical Mycobacterial Infection

Interferon Gamma, Receptor 1, Deficiency

Immunodeficiency, Type 27a, Mycobacteriosis, Ar

Mycobacterial Disease, Mendelian Susceptibility To

Chronic Mucocutaneous Candidiasis

Candidiasis, Chronic Mucocutaneous

Cmc

Candidiasis Chronic Mucocutaneous

Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus IFNGR2 RGD RGD:1307532
Macaca mulatta IFNGR2 VGNC VGNC:73569
Felis catus IFNGR2 VGNC VGNC:67706
Bos taurus IFNGR2 VGNC VGNC:30059
Mus musculus IFNGR2 MGD MGI:107654
Others IFNGR2 NCBI