1. Gene
  2. IL2RG - interleukin 2 receptor subunit gamma Gene

IL2RG - interleukin 2 receptor subunit gamma Gene

中文名称:白细胞介素 2 受体亚基γ

种属: Homo sapiens

同用名: P64; CIDX; IMD4; CD132; SCIDX; IL-2RG; SCIDX1

基因 ID: 3561 | 基因类型: protein coding

关于 IL2RG

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:71,107,404-71,111,577 (from NCBI)

This gene has 8 transcripts (splice variants), 651 orthologues, 23 paralogues and is associated with 4 phenotypes. Biased expression in lymph node (RPKM 112.7), appendix (RPKM 78.7) and 12 other tissues.

功能概要

由该基因编码的蛋白质是许多白细胞介素受体的重要信号成分,包括白细胞介素-2、-4、-7 和-21,因此被称为共同γ链。该基因的突变会导致 X 连锁严重联合免疫缺陷 (XSCID) 以及 X 连锁联合免疫缺陷 (XCID) ,这是一种不太严重的免疫缺陷病。[RefSeq 提供,2010 年 3 月]

The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010]

IL2RG 基因产物(1)

mRNA Protein Name
NM_000206.3 NP_000197.1 cytokine receptor common subunit gamma 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 coreceptor activity IDA
IDA: 通过直接分析推断
7568005 GOA
enables interleukin-15 receptor activity IDA
IDA: 通过直接分析推断
15123770 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8266077 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular homeostasis IDA
IDA: 通过直接分析推断
35021100 GOA
involved in interleukin-15-mediated signaling pathway IMP
IMP: 通过突变表型推断
15123770 GOA
involved in interleukin-2-mediated signaling pathway IDA
IDA: 通过直接分析推断
7568005 GOA
involved in interleukin-7-mediated signaling pathway IDA
IDA: 通过直接分析推断
8128231 GOA
involved in interleukin-9-mediated signaling pathway IDA
IDA: 通过直接分析推断
18829468 GOA
involved in positive regulation of phagocytosis IMP
IMP: 通过突变表型推断
15123770 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
15123770 GOA
is active in plasma membrane IDA
IDA: 通过直接分析推断
8128231 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

IL2RG 蛋白结构

IL6Ra-bind

IL6Ra-bind: Interleukin-6 receptor alpha chain, binding (59 - 148)

fn3

fn3: Fibronectin type III domain (156 - 226)

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

cytokine receptor common subunit gamma

CD132 antigen

重组 IL2RG 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70556 IL-2R gamma/CD132 Protein, Human (HEK293, His) P31785-1 (L23-A262) ≥95%
HY-P77715 IL-2R beta & IL-2R gamma Heterodimer Protein, Human (HEK293, Fc) P14784 (A27-T240)&P31785 (L23-A262) ≥95%
HY-P78083 IL-2R gamma/CD132 Protein, Human (Biotinylated, HEK293, His-Avi) P31785-1 (L23-N254) ≥95%
HY-P78401 IL-2R gamma/CD132 Protein, Human (HEK293, His-Avi) P31785-1 (L23-N254) ≥95%
HY-P700858 IL-2R gamma/CD132 Protein, Human (HEK293, hFc) P31785-1 (L23-N254) ≥95%

关联疾病

疾病名称 别名
Severe Combined Immunodeficiency, X-Linked

X-Linked Severe Combined Immunodeficiency

SCIDX1

XSCID

Scidx

X-Linked Scid

X-Scid

Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Scid, X-Linked

Immunodeficiency 4

Imd4

Gamma Chain Deficiency

Scid-X1

X-Linked Combined Immunodeficiency Diseases

Thymic Epithelial Hypoplasia

Severe Combined Immunodeficiency T- B+ Due To Gamma Chain Deficiency

Severe Combined Immunodeficiency T- B+, X-Linked

Il2rg Scid, T- B+ Nk-

T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency

T-B+ Scid Due To Gamma Chain Deficiency

T-B+ Severe Combined Immunodeficiency, X-Linked

Severe Combined Immunodeficiency X-Linked T-Cell-Negative/B-Cell-Positive/Nk-Cell-Negative

Agammaglobulinemia Swiss Type

Scid X-Linked

Severe Combined Immunodeficiency X-Linked T Cell-Negative/B Cell-Positive/Nk Cell-Negative

Severe Combined Immunodeficiency X-Linked T-Cell Negative/B-Cell Positive/Nk-Cell Negative

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Combined Immunodeficiency, X-Linked

Combined Immunodeficiency, X-Linked, Moderate

X-Linked Combined Immunodeficiency Diseases

XCID

CIDX

Immunodeficiency 6

Imd6

X-Linked Combined Immunodeficiency

Immunodeficiency, Combined, X-Linked

Combined Immunodeficiency

Omenn Syndrome

Histiocytic Medullary Reticulosis

Severe Combined Immunodeficiency With Hypereosinophilia

Combined Immunodeficiency With Hypereosinophilia

Reticuloendotheliosis, Familial, With Eosinophilia

Reticuloendotheliosis Familial With Eosinophilia

Familial Reticuloendotheliosis

Omenn'S Syndrome

OS

Malignant Histiocytosis

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Lymphopenia

Lymphocytopenia

Cd40 Ligand Deficiency

X-Linked Hyper Igm Syndrome

Hyperimmunoglobulin M Syndrome

Higm1

Hyper-Igm Syndrome Type 1

X-Linked Hyper-Igm Syndrome

Xhigm

Higmx-1

X-Linked Hyper-Igm Immunodeficiency

Hyper-Igm Syndrome 1

Immunodeficiency With Hyper-Igm, Type 1

Hyper-Igm Syndrome Due To Cd40 Ligand Deficiency

Hyper-Igm Syndrome Due To Cd40l Deficiency

Hyper-Igm Immunodeficiency Syndrome

Hyper-Igm Immunodeficiency Syndrome, Type 1

Immunodeficiency 45

IMD45

Inflammatory Bowel Disease 28

Early Onset Autosomal Recessive Inflammatory Bowel Disease 28

Ibd28

Inflammatory Bowel Disease 28, Autosomal Recessive

Agammaglobulinemia

Hypogammaglobulinemia

Ighm

Mu Heavy Chain Deficiency

Mu-Heavy Chain Disease

Mu-Hcd

Mu-Chain Disease

Adenosine Deaminase Deficiency

Ada Deficiency

Ada-Scid

Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

Adenosine Deaminase Deficient Severe Combined Immunodeficiency

Scid Due To Ada Deficiency

Severe Combined Immunodeficiency Due To Ada Deficiency

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

Ada

Scid Due To Adenosine Deaminase Deficiency

Reticular Dysgenesis

Severe Combined Immunodeficiency With Leukopenia

De Vaal Disease

Congenital Aleukia

Aleukocytosis

Hematopoietic Hypoplasia, Generalized

Reticular Dysgenesia

Devaal Disease

Rd

Ak2 Deficiency

Congenital Aleukocytosis

Generalized Hematopoietic Hypoplasia

Scid With Leukopenia

RDYS

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation

Severe Combined Immunodeficiency, Athabascan Type

Severe Combined Immunodeficiency Due To Dclre1c Deficiency

Rs-Scid

Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Sensitivity To Ionizing Radiation

Scid Due To Artemis Deficiency

Scid Due To Dclre1c Deficiency

Scid, Athabascan Type

Scid, Athabaskan Type

Severe Combined Immunodeficiency Due To Artemis Deficiency

Severe Combined Immunodeficiency, Athabaskan Type

SCIDA

Severe Combined Immunodeficiency, Athabascan-Type

Artemis Deficiency

Severe Combined Immunodeficiency Athabaskan Type

Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Positive With Sensitivity To Ionizing Radiation

RSSCID

Athabascan Scid

Immunodeficiency, Severe Combined, Athabascan Type

Severe Combined Immunodeficiency, Athabaskan-Type

Immunodeficiency 41 With Lymphoproliferation And Autoimmunity

Cd25 Deficiency

Immunodeficiency Due To Cd25 Deficiency

IMD41

Interleukin 2 Receptor, Alpha, Deficiency Of

Il2ra Deficiency

Immunodeficiency 41

Interleukin-2 Receptor Alpha Chain Deficiency

Interleukin 2 Receptor Alpha Deficiency

Interleukin-2 Receptor, Alpha Chain, Deficiency Of

Immunodeficiency, Type 41 With Lymphoproliferation And Autoimmunity

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

T Cell Deficiency

T Cell Immunodeficiency

T Lymphocyte Deficiency

T Lymphocyte Immunodeficiency

T-Lymphocyte Deficiency

Bare Lymphocyte Syndrome, Type Ii

Mhc Class Ii Deficiency

Bare Lymphocyte Syndrome

Major Histocompatibility Complex Class Ii Deficiency

Bare Lymphocyte Syndrome 2

Bare Lymphocyte Syndrome Type 2

Severe Combined Immunodeficiency, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Bare Lymphocyte Syndrome, Type Ii, Complementation Group D

Bare Lymphocyte Syndrome Type Ii

Scid, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group A

Bare Lymphocyte Syndrome, Type Ii, Complementation Group B

Scid Due To Absent Class Ii Hla Antigens

Hla Class 1 Deficiency

Scid, Hla Class 2-Negative

Bls Type Ii

Bare Lymphocyte Syndrome Type 2, Complementation Group A

Bare Lymphocyte Syndrome Type 2, Complementation Group E

Severe Combined Immunodeficiency

Bls, Type Ii

Bls

Bare Lymphocyte Syndrome, Type Ii, Complementation Group E

Blsii

Bls Type 1

Bls 2

Scid Due To Absence Of Class Ii Hla Antigens

Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens

Immunodeficiency By Defective Expression Of Mhc Class Ii

BLS2

Bare Lymphocyte Syndrome Type Ii Complementation Group A

Bare Lymphocyte Syndrome Type Ii Complementation Group B

Bare Lymphocyte Syndrome Type Ii Complementation Group C

Bare Lymphocyte Syndrome Type Ii Complementation Group D

Bare Lymphocyte Syndrome Type Ii Complementation Group E

Bls Ii

Hereditary Mhc Class Ii Deficiency

Hla Class Ii Deficient Combined Immunodeficiency

Mhc-Ii Deficiency

Scid Hla Class Ii-Negative

Severe Combined Immunodeficiency Hla Class Ii-Negative

Bl-2

Immunodeficiency By Defective Expression Of Hla Class 2

Hla Class 2-Negative Severe Combined Immunodeficiency

Granulomatous Disease, Chronic, X-Linked

CGDX

Chronic Granulomatous Disease, X-Linked

X-Linked Chronic Granulomatous Disease

Cgd

Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked

Cdgx

X-Linked Chronic Cytochrome B-Negative Granulomatous Disease

Chronic Granulomatous Disease Cytochrome B-Negative X-Linked

Chronic Granulomatous Disease Cytochrome B-Positive X-Linked

Granulomatous Disease, Chronic, X-Linked, Variant

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Purine Nucleoside Phosphorylase Deficiency

Purine-Nucleoside Phosphorylase Deficiency

Pnp Deficiency

Nucleoside Phosphorylase Deficiency

Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency

Deficiency Of Inosine Phosphorylase

Pnpase Deficiency

PNPD

Immunodeficiency 55

Combined Immunodeficiency Due To Gins1 Deficiency

IMD55

Cid Due To Gins1 Deficiency

Combined Immunodeficiency With Intrauterine Growth Retardation-Nk Cell Deficiency-Neutropenia

Combined Immunodeficiency With Intrauterine Growth Retardation-Natural Killer Cell Deficiency-Neutropenia

Human Immunodeficiency Virus Infectious Disease

Hiv Infections

Duodenum Adenoma
Precursor T-Cell Acute Lymphoblastic Leukemia

T-All

Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

Precursor T-Cell Acute Lymphocytic Leukemia

Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Adult T-Cell Lymphoma/Leukemia

Gastrointestinal Defects And Immunodeficiency Syndrome 1

Familial Intestinal Polyatresia Syndrome

Fipa

Gastrointestinal Defects And Immunodeficiency Syndrome

Multiple Gastrointestinal Atresias

Familial Isolated Pituitary Adenoma

Intestinal Atresia, Multiple

Multiple Intestinal Atresia

GIDID1

Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Minat

Gidid

Meddra:10028210

Familial Isolated Pituitary Adenoma Syndrome

Intestinal Atresia Multiple

Combined Immunodeficiency-Enteropathy Spectrum

Cid-Mia/Early-Onset Ibd

Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Mia

Gastrointestinal Defect And Immunodeficiency Syndrome

Pituitary Adenoma Predisposition

Pituitary Adenoma, Familial Isolated

Chronic Granulomatous Disease

Cgd

Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Ciliary Dyskinesia, Primary, 5

Primary Ciliary Dyskinesia 5

CILD5

Ciliary Dyskinesia, Primary, 5, Without Situs Inversus

Primary Ciliary Dyskinesia 5 Without Situs Inversus

Ics5

Immotile Cilia Syndrome 5

Primary Ciliary Dyskinesia 5 With Or Without Situs Inversus

Dyskinesia, Ciliary, Primary, Type 5

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
Bos taurus IL2RG VGNC VGNC:30153
Rattus norvegicus IL2RG RGD RGD:621466
Mus musculus IL2RG MGD MGI:96551
Canis familiaris IL2RG VGNC VGNC:41979
Macaca fascicularis IL2RG NCBI NCBI:102144912
Others IL2RG NCBI