IL2RG - interleukin 2 receptor subunit gamma Gene

Homo sapiens

Also known as P64; CIDX; IMD4; CD132; SCIDX; IL-2RG; SCIDX1

Gene ID: 3561 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_000206.3	NP_000197.1	cytokine receptor common subunit gamma precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables coreceptor activity	IDA IDA: Inferred from direct assay	7568005	GOA
enables interleukin-15 receptor activity	IDA IDA: Inferred from direct assay	15123770	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8266077	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular homeostasis	IDA IDA: Inferred from direct assay	35021100	GOA
involved in interleukin-15-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	15123770	GOA
involved in interleukin-2-mediated signaling pathway	IDA IDA: Inferred from direct assay	7568005	GOA
involved in interleukin-7-mediated signaling pathway	IDA IDA: Inferred from direct assay	8128231	GOA
involved in interleukin-9-mediated signaling pathway	IDA IDA: Inferred from direct assay	18829468	GOA
involved in positive regulation of phagocytosis	IMP IMP: Inferred from mutant phenotype	15123770	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell surface	IDA IDA: Inferred from direct assay	15123770	GOA
is active in plasma membrane	IDA IDA: Inferred from direct assay	8128231	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

IL2RG Protein Structure

IL6Ra-bind

fn3

0
100
200
300
369 a.a.

Protein Preferred Names

Protein Names

cytokine receptor common subunit gamma

CD132 antigen

Recombinant IL2RG Proteins

Cat. No.	Product Name	Accession	Purity
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%

Related Diseases

Diseases

Alias

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06750	IL2RG Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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