Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3561
Gene name	Interleukin 2 receptor subunit gamma
Gene symbol	IL2RG
Synonyms (NCBI Gene)	CD132CIDXIL-2RGIMD4P64SCIDXSCIDX1
Chromosome	X
Chromosome location	Xq13.1
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

Show/Hide all (49)

SNP ID	Visualize variation	Clinical significance	Consequence
rs111033618	G>A	Pathogenic	Coding sequence variant, missense variant
rs111033619	A>T	Pathogenic	Coding sequence variant, stop gained
rs111033620	C>T	Pathogenic	Coding sequence variant, missense variant
rs111033621	A>T	Pathogenic	Coding sequence variant, missense variant
rs111033622	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852507	T>A,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852511	A>G	Pathogenic	Coding sequence variant, missense variant
rs193922346	C>A	Likely-pathogenic, pathogenic	Splice acceptor variant
rs193922347	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922348	A>C,G	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs193922349	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs193922350	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs587776729	->CCAATGCTG	Pathogenic	Inframe insertion, coding sequence variant
rs775704953	G>A,T	Benign, pathogenic	Coding sequence variant, missense variant, stop gained
rs776710796	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs869320658	G>A	Pathogenic	Missense variant, coding sequence variant
rs869320659	G>A	Pathogenic	Missense variant, coding sequence variant
rs869320660	C>T	Pathogenic	Missense variant, coding sequence variant
rs879253742	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs886039387	T>C	Pathogenic	Intron variant
rs886041334	A>G	Pathogenic	Initiator codon variant, missense variant
rs1057517747	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057517950	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520644	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057521062	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793153	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793338	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691652	G>A	Pathogenic	Coding sequence variant, stop gained
rs1556330234	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556330249	G>A	Pathogenic	Stop gained, coding sequence variant
rs1556330286	G>C	Pathogenic	Stop gained, coding sequence variant
rs1556330552	G>A	Pathogenic	Stop gained, coding sequence variant
rs1556330562	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556330568	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556330710	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556330713	G>A	Pathogenic	Stop gained, coding sequence variant
rs1556330755	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556330940	->CAGA	Pathogenic	Frameshift variant, coding sequence variant
rs1556330963	->CATGT	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1556331272	C>A	Pathogenic	Stop gained, coding sequence variant
rs1569479994	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1569480018	C>T	Pathogenic	Splice donor variant
rs1569480047	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569480082	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1602289183	CA>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1602289411	G>A	Pathogenic	Coding sequence variant, stop gained
rs1602289631	->AGCA	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1602289649	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602289943	C>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments
MIRT2015430	hsa-miR-4494	CLIP-seq
MIRT2015431	hsa-miR-4499	CLIP-seq
MIRT2015430	hsa-miR-4494	CLIP-seq
MIRT2015431	hsa-miR-4499	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
RXRA	Activation	12149223

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002335	Process	Mature B cell differentiation	IEA
GO:0002361	Process	CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002639	Process	Positive regulation of immunoglobulin production	IBA
GO:0004896	Function	Cytokine receptor activity	IBA
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0004911	Function	Interleukin-2 receptor activity	TAS	8266076
GO:0004913	Function	Interleukin-4 receptor activity	TAS	8266078
GO:0004917	Function	Interleukin-7 receptor activity	TAS	8266077
GO:0005515	Function	Protein binding	IPI	8266077, 12504082, 25416956, 28514442, 31515488, 32296183, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005768	Component	Endosome	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IC	7973659
GO:0005886	Component	Plasma membrane	IDA	8128231, 8524310, 18829468
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8514792
GO:0006955	Process	Immune response	TAS	8266078
GO:0007165	Process	Signal transduction	NAS	8266076
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009897	Component	External side of plasma membrane	ISS
GO:0009986	Component	Cell surface	IDA	15123770
GO:0009986	Component	Cell surface	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0015026	Function	Coreceptor activity	IDA	7568005, 8026467, 8128231, 8624802, 18829468
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0019725	Process	Cellular homeostasis	IDA	35021100
GO:0019955	Function	Cytokine binding	IBA
GO:0019976	Function	Interleukin-2 binding	IEA
GO:0019976	Function	Interleukin-2 binding	ISS
GO:0030098	Process	Lymphocyte differentiation	IBA
GO:0030098	Process	Lymphocyte differentiation	IEA
GO:0030183	Process	B cell differentiation	IEA
GO:0032831	Process	Positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation	IEA
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	IEA
GO:0035723	Process	Interleukin-15-mediated signaling pathway	IMP	15123770
GO:0035771	Process	Interleukin-4-mediated signaling pathway	IDA	17200144
GO:0038110	Process	Interleukin-2-mediated signaling pathway	IDA	7973659, 8631883
GO:0038110	Process	Interleukin-2-mediated signaling pathway	IDA	7568005
GO:0038111	Process	Interleukin-7-mediated signaling pathway	IDA	9182906, 20974963
GO:0038111	Process	Interleukin-7-mediated signaling pathway	IDA	8128231
GO:0038113	Process	Interleukin-9-mediated signaling pathway	IDA	10919676, 18829468
GO:0038113	Process	Interleukin-9-mediated signaling pathway	IDA	18829468
GO:0042010	Function	Interleukin-15 receptor activity	IDA	15123770
GO:0043235	Component	Receptor complex	IBA
GO:0045579	Process	Positive regulation of B cell differentiation	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IMP	15123770

MIM	HGNC	e!Ensembl
308380	6010	ENSG00000147168

P31785

Protein name

Cytokine receptor common subunit gamma (Interleukin-2 receptor subunit gamma) (IL-2 receptor subunit gamma) (IL-2R subunit gamma) (IL-2RG) (gammaC) (p64) (CD antigen CD132)

Protein function

Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770).

PDB

2B5I , 2ERJ , 3BPL , 3QAZ , 3QB7 , 4GS7 , 5M5E , 6OEL , 7S2R , 8ENT , 8EPA , 9JQT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09240	IL6Ra-bind	59 → 151	Interleukin-6 receptor alpha chain, binding	Domain

Sequence

MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEV
QCFVFNVEYMNCTWNSSSEPQPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKK
EIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENLTLHKLSESQLELNWNNRFLN
HCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRSRFNPLCGSAQHWSEW
SHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISLLCVYFWLERTMPRIPTLKNLEDLV
TEYHGNFSAWSGVSKGLAESLQPDYSERLCLVSEIPPKGGALGEGPGASPCNQHSPYWAP
PCYTLKPET

Sequence length

369

Interactions

View interactions

454

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined immunodeficiency, X-linked	Pathogenic; Likely pathogenic	rs2092262300, rs2147751859, rs869320659, rs869320658, rs137852510, rs111033618, rs763359860, rs1057520644, rs1064793347, rs2092261313	RCV001329693 RCV002208750 RCV000763631 RCV000853368 RCV000010706 RCV000010710 RCV004577431 RCV001253325 RCV001090163 RCV001280968
Nonpapillary renal cell carcinoma	Pathogenic	rs2147747293, rs111033617, rs1057520644	RCV005912619 RCV005887417 RCV005896247
SCID with features of gamma chain deficiency	Pathogenic	rs869320658	RCV006270230
See cases	Likely pathogenic	rs2519647255	RCV003156166
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1556329822	RCV005896752
X-linked severe combined immunodeficiency	Likely pathogenic; Pathogenic	rs2147748189, rs2092262300, rs141707292, rs2147747293, rs2147748142, rs1569479913, rs2147749578, rs2147750359, rs1602289649, rs2147751144, rs2147751146, rs2147747509, rs2147750252, rs2147751090, rs2147747375 View all (100 more)	RCV001594437 RCV001863206 RCV001348578 RCV001379603 RCV001379604 RCV001379605 RCV001377899 RCV001378640 RCV001377072 RCV001379508 RCV001377945 RCV001388678 RCV001381311 RCV001387994 RCV003509672 RCV001644553 RCV004765357 RCV001920479 RCV001867248 RCV001969652 RCV002044749 RCV001867748 RCV002007327 RCV001899190 RCV001878969 RCV001958614 RCV001956149 RCV001959188 RCV001966612 RCV001866960 RCV002208750 RCV002222990 RCV002250055 RCV002284056 RCV002306639 RCV002308064 RCV002308169 RCV002309026 RCV002309463 RCV002310211 RCV003050620 RCV003041453 RCV003041454 RCV003041455 RCV002848360 RCV002880974 RCV003032081 RCV003022585 RCV003057666 RCV003055625 RCV000210841 RCV000210834 RCV000210828 RCV003150601 RCV003150603 RCV000234914 RCV000010699 RCV000010701 RCV000010702 RCV000010703 RCV000010704 RCV000010705 RCV001038281 RCV000010707 RCV000010708 RCV000010709 RCV001383439 RCV000553796 RCV003401224 RCV003509865 RCV003509056 RCV003509057 RCV003509059 RCV003510264 RCV003510966 RCV003510334 RCV003622814 RCV003622202 RCV003991493 RCV001251321 RCV001235346 RCV000638843 RCV000586219 RCV003485588 RCV000990859 RCV000030053 RCV000030054 RCV000030055 RCV000030056 RCV000030057 RCV000030058 RCV000538891 RCV000554205 RCV000556829 RCV000550914 RCV000531954 RCV000525527 RCV000536305 RCV003509571 RCV001192507 RCV000638841 RCV000638840 RCV000686497 RCV000690121 RCV000824674 RCV000766121 RCV000781480 RCV000781479 RCV004765338 RCV000815773 RCV000804431 RCV000797103 RCV001041771 RCV001063995 RCV001223070 RCV001211090 RCV001213477 RCV001218893 RCV001236093 RCV001231054 RCV001236375 RCV001260353 RCV001280968

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs781154927	RCV005921274
IL2RG-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs751970923, rs773483114, rs370677485, rs147424359, rs781649645, rs775704953, rs374270413, rs1015272346	RCV003898409 RCV003898384 RCV003403471 RCV003950409 RCV003957936 RCV003895722 RCV003898045 RCV003405253

Show/Hide Text Mining Associations (79)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	32509861
Adrenoleukodystrophy	Associate	32072341
Agammaglobulinemia	Associate	33959125
Arthritis Reactive	Associate	32072341
Arthritis Rheumatoid	Associate	17257224
Arthritis Rheumatoid	Stimulate	24397353
Autoimmune Diseases	Associate	24406074, 31110501
Bone Diseases Metabolic	Associate	25565391
Breast Neoplasms	Associate	29685151
Carcinoma Adenoid Cystic	Associate	22382400
Carcinoma Renal Cell	Associate	10388747, 22363690, 37908350, 39233640, 9242704
Cardiomyopathy Dilated	Associate	36733486
Cataract	Associate	10914683, 18926820, 19262743, 24287181
Chagas Cardiomyopathy	Associate	17635814
Chromosome Disorders	Stimulate	12930384
Colitis Ulcerative	Associate	34353876
Crohn Disease	Associate	22128034, 40248067
Crohn Disease	Inhibit	40182599
Cystic Fibrosis	Associate	30177416
Dermatitis Atopic 3	Associate	34525985
Diabetes Mellitus Type 1	Associate	31110501
Diabetes Mellitus Type 2	Associate	26271466
Dysgammaglobulinemia	Associate	35052377
Eczema	Associate	34248995
Endometriosis	Associate	16759924
Genetic Diseases Inborn	Associate	35052377, 9633906
Glioblastoma	Associate	30152087
Glioma	Associate	30152087
Graft vs Host Disease	Associate	26444081
Granulomatous Disease Chronic	Associate	24406074
Growth Disorders	Associate	19189700
Hashimoto Disease	Associate	11045564, 32603365
Heart Diseases	Associate	17635814
Hereditary leiomyomatosis and renal cell cancer	Associate	18684866
HIV Infections	Stimulate	19864382
Hyperglycemia	Inhibit	31615064
Immune Deficiency Familial Variable	Associate	26076747
Immune System Diseases	Associate	11961146, 17827065, 37325673
Immunologic Deficiency Syndromes	Associate	24159173, 25565391, 7883965
Inflammation	Associate	32603365, 40248067
Inflammatory Bowel Diseases	Associate	37461086
Job Syndrome	Associate	34248995
Laryngeal Neoplasms	Associate	36033826
Leukemia Myeloid	Associate	33110919
Leukemia Prolymphocytic T Cell	Associate	24825865
Leukemia T Cell	Associate	18688285
Lipoma of the Conjunctiva	Associate	34349764
Lupus Erythematosus Systemic	Associate	17257224
Lymphohistiocytosis Hemophagocytic	Associate	10792291, 32993535
Lymphoma	Associate	15811959
Lymphoma T Cell	Associate	11902333
Lymphoma T Cell	Inhibit	40248067
Lymphoma T Cell Cutaneous	Associate	27329723
Lymphoma T Cell Peripheral	Associate	26536348
Melanoma	Associate	34159752
Meningococcal Infections	Associate	36033826
Necrosis	Associate	11902333
Neoplasm Metastasis	Associate	34159752
Neoplasms	Associate	22363690, 34349241, 34715892, 37841886, 9218839
Neoplasms	Inhibit	34159752
Neoplastic Syndromes Hereditary	Associate	24287181
Otitis Media with Effusion	Associate	22382400
Ovarian Neoplasms	Associate	37841886
Periodontitis	Associate	36438900
Pneumonia	Associate	23403317, 36799159
Premature Birth	Associate	23227263
Primary Immunodeficiency Diseases	Associate	31100039, 32265901
Progressive hearing loss stapes fixation	Associate	37461086
Renal Insufficiency	Associate	19189700
Severe Acute Respiratory Syndrome	Associate	25042067
Severe Combined Immunodeficiency	Associate	11961146, 12435740, 15831699, 17827065, 18559672, 19414857, 20149240, 26076747, 26547715, 28109013, 29728406, 30261899, 32265901, 32265911, 32754152 View all (11 more)
Sezary Syndrome	Associate	26551670
Sjogren's Syndrome	Associate	34349764
Skin Neoplasms	Associate	32681206
Squamous Cell Carcinoma of Head and Neck	Associate	33232279
Tuberculosis	Associate	36799159
Warts	Associate	35052377
X Linked Combined Immunodeficiency Diseases	Associate	11260071, 11902333, 11961146, 12181059, 12435740, 1550118, 15585650, 17363735, 17369490, 18559672, 18688285, 18728247, 19189700, 19286997, 19398866 View all (37 more)
Young Syndrome	Associate	34248995

IL2RG (interleukin 2 receptor subunit gamma)