IL2RG - interleukin 2 receptor subunit gamma Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3561

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	References	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	References	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	References	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

IL2RG Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	IL2RG	P31785	KRTAP10-8	Homo sapiens	P60410	Validated Y2H	32296183
Intra	IL2RG	P31785	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
Intra	IL2RG	P31785	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
Intra	IL2RG	P31785	KRTAP5-7	Homo sapiens	Q6L8G8	Validated Y2H	32296183
Intra	IL2RG	P31785	KRTAP5-7	Homo sapiens	Q6L8G8	Y2H Prey Pooling	32296183
Intra	IL2RG	P31785	KRTAP5-7	Homo sapiens	Q6L8G8	Y2H Array	32296183
Intra	IL2RG	P31785	REEP6	Homo sapiens	Q96HR9	Anti Tag CoIP	33961781
Intra	IL2RG	P31785	REEP6	Homo sapiens	Q96HR9	Anti Tag CoIP	28514442
Intra	IL2RG	P31785	IL7	Homo sapiens	P13232	Anti Bait CoIP	8266077
Intra	IL2RG	P31785	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Array	31515488
Intra	IL2RG	P31785	NOTCH2NLA	Homo sapiens	Q7Z3S9	Validated Y2H	25416956
Intra	IL2RG	P31785	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant IL2RG Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70556	IL-2R gamma/CD132 Protein, Human (HEK293, His)	P31785-1 (L23-A262)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P77715	IL2RB-IL2RG Heterodimer Protein, Human (HEK293, Fc)	P14784 (A27-T240)&P31785 (L23-A262)	≥ 90%, as determined by reducing SDS-PAGE or Bis-Tris PAGE.
HY-P78083	IL-2R gamma/CD132 Protein, Human (Biotinylated, HEK293, His-Avi)	P31785-1 (L23-N254)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P78401	IL-2R gamma/CD132 Protein, Human (HEK293, His-Avi)	P31785-1 (L23-N254)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P700858	IL-2R gamma/CD132 Protein, Human (HEK293, hFc)	P31785-1 (L23-N254)	≥ 95%, as determined by reducing SDS-PAGE.

IL2RG Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84256	CD132 Antibody (YA3953)	WB, FC, ELISA	Human
HY-P84256A	CD132 Antibody (YA3953)(PBS only)	WB, FC, ELISA	Human

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P991201	REGN-7257	Inhibitor	95.34%	Phase 1

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06750	IL2RG Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20039	Il2rg Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26542	Il2rg Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	IL2RG	NCBI