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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

IL2RG Gene

protein-coding GIFtS: 66
GCID: GC0XM070327

interleukin 2 receptor, gamma

(Previous names: severe combined immunodeficiency, combined immunodeficiency,...)
(Previous symbols: SCIDX1, IMD4, CIDX)

Explore 30 diseases affiliated with
IL2RG via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Interleukin 2 Receptor, Gamma¹ ²		IL-2R Subunit Gamma² ³
IMD4¹ ² ⁵		SCIDX² ⁵
SCIDX1¹ ² ⁵		Combined Immunodeficiency, X-Linked¹
CD132¹ ²		Severe Combined Immunodeficiency¹
CIDX¹ ²		P64²
IL-2RG² ³		Common Cytokine Receptor Gamma Chain²
CD132 Antigen² ³		Cytokine Receptor Common Subunit Gamma²
GammaC¹		Interleukin-2 Receptor Subunit Gamma³
IL-2 Receptor Subunit Gamma² ³		P64²

External Ids:	HGNC: 6010¹	Entrez Gene: 3561²	Ensembl: ENSG00000147168⁷	OMIM: 308380⁵	UniProtKB: P31785³

Export aliases for IL2RG gene to outside databases

Previous GC identifers: GC0XM066501 GC0XM067804 GC0XM068559 GC0XM069194 GC0XM070110 GC0XM070244 GC0XM070246 GC0XM064146

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IL2RG:

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)

UniProtKB/Swiss-Prot: IL2RG_HUMAN, P31785

Function: Common subunit for the receptors for a variety of interleukins

Gene Wiki entry for IL2RG (Common gamma chain)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011669.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the IL2RG gene promoter:
GR RP58 GR-beta p300 Nkx2-5 Evi-1 COMP1 HOXA5 IRF-7A GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: IL2RG promoter sequence

Search SABiosciences Chromatin IP Primers for IL2RG

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IL2RG

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq13.1 Ensembl cytogenetic band: Xq13.1 HGNC cytogenetic band: Xq13

IL2RG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IL2RG gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM070327: view genomic region (about GC identifiers)

Start:	70,327,254 bp from pter	End:	70,331,958 bp from pter
Size:	4,705 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IL2RG_HUMAN, P31785 (See protein sequence)

Recommended Name: Cytokine receptor common subunit gamma precursor

Size: 369 amino acids; 42287 Da

Subunit: The gamma subunit is common to the IL2, IL4, IL7, IL15, IL21 and probably also the IL13 receptors. Interacts

with SHB upon interleukin stimulation. Interacts with HTLV-1 accessory protein p12I

Subcellular location: Membrane; Single-pass type I membrane protein

6/10 PDB 3D structures from and Proteopedia for IL2RG (see all 10):

1ILL (3D)

1ILM (3D)

1ILN (3D)

1ITE (3D)

2B5I (3D)

2ERJ (3D)

Explore the universe of human proteins at neXtProt for IL2RG: NX_P31785

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P31785

IL2RG Protein expression data from MOPED and PaxDb: --

REFSEQ proteins: NP_000197.1

ENSEMBL proteins:

ENSP00000363318 ENSP00000421262 ENSP00000425233 ENSP00000423966 ENSP00000423601

ENSP00000388967 ENSP00000363303

Reactome Protein details: P31785
Human Recombinant Protein Products:

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	Novus Biologicals IL2RG Proteins Novus Biologicals IL2RG Lysates
	Sino Biological Recombinant Protein for IL2RG
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	8514792
GO:0009897	external side of plasma membrane	ISS	--
GO:0016020	membrane	--	--

IL2RG for ontologies About GeneDecksing

IL2RG Antibody Products:

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	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

IL2RG for domains About GeneDecksing

4 InterPro domains/families:

IPR015321 IL6_recept-bd

IPR003961 Fibronectin_type3

IPR013783 Ig-like_fold

IPR003531 Hempt_rcpt_S_F1_CS

Graphical View of Domain Structure for InterPro Entry P31785

ProtoNet protein and cluster: P31785

1 Blocks protein family: IPB003531 Short hematopoietin receptor

UniProtKB/Swiss-Prot: IL2RG_HUMAN, P31785

Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular

transport and cell-surface receptor binding

Domain: The box 1 motif is required for JAK interaction and/or activation

Similarity: Belongs to the type I cytokine receptor family. Type 5 subfamily

Similarity: Contains 1 fibronectin type-III domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: IL2RG_HUMAN, P31785

Function: Common subunit for the receptors for a variety of interleukins

Genatlas biochemistry entry for IL2RG:

interleukin 2,high affinity receptor gamma chain,hematopoietic receptor family,mainly expressed in lymphoid and myeloid

cell lines,also functional component of IL2R,IL4R,IL7R,IL9R,IL15R (see SCIDX1)

miRNA Products:		OriGene 3'-UTR Clone: IL2RG Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IL2RG
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate IL2RG:
		hsa-miR-873 hsa-miR-1321 hsa-miR-513c hsa-miR-514b-5p hsa-miR-421
		SwitchGear 3'UTR luciferase reporter plasmid: IL2RG 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IL2RG (see all 7) OriGene shRNA RFP: IL2RG OriGene siRNA: IL2RG
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IL2RG

Gene Editing
Products:

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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for IL2RG (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IL2RG OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: IL2RG (NM_000206)
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		Search LifeMap BioReagents cell lines for IL2RG

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL2RG

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004896	cytokine receptor activity	--	--
GO:0004911	contributes to interleukin-2 receptor activity	TAS	8266076
GO:0004913	contributes to interleukin-4 receptor activity	TAS	8266078
GO:0004917	contributes to interleukin-7 receptor activity	TAS	8266077
GO:0005515	protein binding	IPI	8266077

IL2RG for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for IL2RG:

Synthetic lethal with Ras

Animal Models:
Mouse knock-outs for IL2RG: Il2rg^tm1Sug Il2rg^tm1Wjl Il2rg^tm1Krf Il2rg^tm1.1Flv Il2rg^tm1Cgn
12 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Il2rg):

cellular	craniofacial	digestive/alimentary	embryogenesis	hematopoietic system
homeostasis/metabolism	immune system	mortality/aging	reproductive system	respiratory system
skeleton	tumorigenesis

IL2RG for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/33 super-pathways (see all 33) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

IL-9 Signaling Pathways

8/11 pathways (see all 11)
IL-9 Signaling Pathways	1.00	IL-4 Signaling Pathways	0.80
IL-21 Signaling Pathways	0.90	IL-9 Signaling Pathway	0.42
IL-7 Signaling Pathways	0.90	Immune response_IL-9 signaling pathway	0.42
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways	0.90	Immune response IL-9 signaling pathway	0.42

Interleukin receptor SHC signaling

Interleukin receptor SHC signaling	1.00	SHC1 mediates cytokine-induced phosphorylation of GAB2	0.61
Interleukin-2 signaling	0.67	Interleukin-3, 5 and GM-CSF signaling	0.57
Phosphorylated SHC1 recruits GRB2:GAB2	0.61	Signaling by Interleukins	0.25

PEDF Induced Signaling

STAT3 Pathway	0.47	Glucocorticoid Receptor Signaling	0.27
NFAT Signaling and Lymphocyte Interactions	0.37	Cytokine-cytokine receptor interaction	0.26
PGC1Alpha Pathway	0.33

TGF-Beta Pathway

	TGF-Beta Pathway	1.00			JAK-STAT Pathway	0.57
	MAPK Family Pathway	0.60			JNK Pathway	0.50

Akt Signaling

	Akt Signaling	1.00			Tec Kinases Signaling	0.55
	p38 Signaling	0.60

Pathway sources
See GeneCards unified pathways
Show all pathways

4 EMD Millipore Pathways for IL2RG

	Immune response IL-9 signaling pathway
	Immune response IL-22 signaling pathway
	Immune response IL-4 signaling pathway
	Immune response IL-2 activation and signaling pathway

5/14 R&D Systems Pathways for IL2RG (see all 14)

	IL-21 Signaling Pathways
	IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types
	IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types
	IL-2 Signaling Pathways
	IL-4 Signaling Pathways

5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for IL2RG (see all 15)

	STAT3 Pathway
	Molecular Mechanisms of Cancer
	Antioxidant Action of Vitamin-C
	Glucocorticoid Receptor Signaling
	ICos-ICosL Pathway in T-Helper Cell

5 GeneGo (Thomson Reuters) Pathways for IL2RG

	Immune response IL-4 signaling pathway
	Immune response IL-22 signaling pathway
	Immune response IL-9 signaling pathway
	Cytokine production by Th17 cells in CF (Mouse model)
	Immune response IL-2 activation and signaling pathway

5/11 BioSystems Pathways for IL2RG (see all 11)

	IL-7 Signaling Pathway
	IL-4 signaling Pathway
	IL-9 Signaling Pathway
	IL-2 Signaling Pathway
	Inflammatory Response Pathway

5/10 Reactome Pathways for IL2RG (see all 10)

	Phosphorylated SHC1 recruits GRB2:GAB2
	Cytokine Signaling in Immune system
	SHC1 mediates cytokine-induced phosphorylation of GAB2
	Interleukin-7 signaling
	Interleukin receptor SHC signaling

5 Kegg Pathways (Kegg details for IL2RG):

	Cytokine-cytokine receptor interaction
	Endocytosis
	Jak-STAT signaling pathway
	Measles
	Primary immunodeficiency

IL2RG for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for IL2RG

5/33 Interacting proteins for IL2RG (P31785^{1, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IL7	P13232¹^,³	EBI-80475,EBI-80516 I2D: score=5
JAK3	P52333³	I2D: score=5
IL4	P05112³	I2D: score=4
IL4R	P24394³	I2D: score=4
IL2	P60568³	I2D: score=3

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006955	immune response	TAS	8266078
GO:0007165	signal transduction	NAS	8266076
GO:0019048	virus-host interaction	IEA	--
GO:0035771	interleukin-4-mediated signaling pathway	TAS	8266078
GO:0038110	interleukin-2-mediated signaling pathway	TAS	8266076

IL2RG for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

IL2RG for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IL2RG

2 DrugBank Compounds for IL2RG About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Aldesleukin	IL-2 (see all 4)	85898-30-2	target	agonist	17083048 16477002 17363735 17598841 17635814
Denileukin diftitox	Diphtheria toxin precursor (see all 3)	173146-27-5	target	--	16516670 15811959 11707860

3 Novoseek chemical compound relationships for IL2RG gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	19.7	1	8631883 (1)
gnrh	0	3	10022447 (1)
cyclosporin a	0	1	11159533 (1)

Search CenterWatch for drugs/clinical trials and news about IL2RG

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for IL2RG gene:

NM_000206.2

Unigene Cluster for IL2RG:

Interleukin 2 receptor, gamma

Hs.84 [show with all ESTs]

Unigene Representative Sequence: BM563937

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000276110 ENST00000374202(uc004dyv.2 uc004dyw.2 uc004dyx.2)

ENST00000512747 ENST00000482750 ENST00000464642 ENST00000487883 ENST00000473378

ENST00000456850 ENST00000374188

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IL2RG
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate IL2RG:
		hsa-miR-873 hsa-miR-1321 hsa-miR-513c hsa-miR-514b-5p hsa-miR-421
		SwitchGear 3'UTR luciferase reporter plasmid: IL2RG 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: IL2RG (NM_000206)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IL2RG

Additional cDNA sequence:

AB102793.1 AB102794.1 AB102795.1 AB102796.1 AB102797.1 AK314932.1 BC014972.1 D11086.1

9 DOTS entries:

DT.453184 DT.99951717 DT.100813849 DT.95362573 DT.92430250 DT.92430248 DT.92430249 DT.95087461

DT.95376028

24/159 AceView cDNA sequences (see all 159):

BU630174 BP368054 NM_000206 BP367721 AI684615 BC014972 BX106235 AA311429

AA312473 BC071710 CR591866 BP367604 BQ052199 CR599537 BP367976 BM991312

BM918448 AW406187 CR624448 AI572004 D11086 CD368264 AL548162 AW886672

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for IL2RG About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9a	·	9b
SP1:									-
SP2:
SP3:			-						-
SP4:																					-

ECgene alternative splicing isoforms for IL2RG

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IL2RG expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTTCTTCT

About this image

IL2RG expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Skeletal Muscle

Skeletal Muscle

Mandibular Arch Muscles

Mononuclear Myocytes

Skeletal Muscle

Mandibular Arch Muscles

Myoblasts

Skeletal Muscle

Adipose

Body Subcutaneous White Adipose

Adipose

Thoracic Perivascular Adipose

Adipose

Kidney

S-shaped Body

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Genevestigator expression for IL2RG

SOURCE GeneReport for Unigene cluster: Hs.84

SABiosciences Expression via Pathway-Focused PCR Arrays including IL2RG:

Interferons & Receptors in human mouse rat

Inflammatory Cytokines & Receptors in human mouse rat

JAK / STAT Signaling Pathway in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IL2RG

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for IL2RG gene from 3/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	IL2RG¹	interleukin 2 receptor, gamma (severe combined immunodeficiency)	55.7(n) 43.29(a)		395199 NM_204527.1 NP_989858.1
lizard (Anolis carolinensis)	Reptilia	IL2RG⁶	--	33(a)	1 ↔ 1	GL343599.1(348192-356830)
zebrafish (Danio rerio)	Actinopterygii	il2rgb¹	interleukin 2 receptor, gamma b	46.94(n) 33.09(a)		100144554 NM_001123050.1 NP_001116522.1

ENSEMBL Gene Tree for IL2RG (if available)
TreeFam Gene Tree for IL2RG (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137852508^1,2	C	pathogenic	70328186(-)	`TGCCCC/TGAATT`	4	R *	stg¹ us2k¹		0	--	--	--	--
rs111033617^1,2	C	pathogenic	70328449(-)	`GGAACA/GGTGAG`	4	Q R	us2k¹ mis¹		0	--	--	--	--
rs111033618^1,2	C	pathogenic	70329171(-)	`CGTTTC/TGTGTT`	2	R C	mis¹		0	--	--	--	--
rs111033622^1,2	C	pathogenic	70330465(-)	`CTGGCC/TGTCAG`	2	R C	mis¹		0	--	--	--	--
rs111033620^1,2	C	pathogenic	70330467(-)	`TTCTGA/GCTGTC`	2	D G	mis¹		0	--	--	--	--
rs111033619^1,2	C	pathogenic	70330830(-)	`CAGTGA/TTTTGT`	2	* C	stg¹		0	--	--	--	--
rs7882768^1,2	A	--	70326838(+)	`ctgcaA/Tcctct`	3	--	ds500¹ us2k¹		0	--	--	--	--
rs7882920^1,2	A	--	70326926(+)	`ctaatA/Ttttgt`	3	--	us2k¹ ds500¹		0	--	--	--	--
rs7878002^1,2	A	--	70326992(+)	`acctcG/Ttgatc`	3	--	ds500¹ us2k¹		0	--	--	--	--
rs5981074^1,2	C,F,	--	70327058(+)	`gccCAT/CTGTAA`	3	--	ds500¹ us2k¹		4		NA NS	90

HapMap Linkage Disequilibrium report for IL2RG (70327254 - 70331958 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for IL2RG
1 CNV: 7797
Human Gene Mutation Database (HGMD): IL2RG

Locus Specific Mutation Databases (LSDB): IL2RG

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IL2RG

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

IL2RG for disorders           About GeneDecksing

OMIM gene information: 308380
OMIM disorders: 300400  312863
UniProtKB/Swiss-Prot: IL2RG_HUMAN, P31785

Defects in IL2RG are the cause of severe combined immunodeficiency X-linked

T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]; also known as agammaglobulinemia Swiss type. A

form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital

disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent

antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common

characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell

development

Defects in IL2RG are the cause of X-linked combined immunodeficiency (XCID) [MIM:312863]. XCID is a less

severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than

that seen in XSCID

20/30 diseases for IL2RG (see all 30): About MalaCards

severe combined immunodeficiency combined immunodeficiency immunodeficiency combined immunodeficiency, x-linked, moderate

interleukin receptor pre-b-cell acute lymphoblastic leukemia gamma chain deficiency acute lymphoblastic leukemia

lung giant cell carcinoma short stature hairy cell leukemia lymphoblastic leukemia

lymphopenia omenn syndrome leukemia/lymphoma agammaglobulinemia

bronchiolitis leukopenia t-cell leukemia leukemia

1 disease from the University of Copenhagen DISEASES database for IL2RG:

Severe combined immunodeficiency

10 Novoseek disease relationships for IL2RG gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
severe combined immunodeficiency, x-linked	97.9	93	8401490 (5), 10794430 (4), 9049783 (2), 7668284 (2) (see all 44)
severe combined immunodeficiency	80.4	15	8401490 (1), 7937790 (1), 14726805 (1), 11339359 (1) (see all 14)
t-all	54.5	3	11553853 (1), 16988660 (1)
lymphopenia	49.2	2	18728247 (1), 15702055 (1)
leukemia	36.2	5	19440365 (1), 19461887 (1), 19337236 (1), 15958711 (1) (see all 5)
immunodeficiency	33.9	5	19659776 (1), 20060740 (1), 15958711 (1), 15681411 (1) (see all 5)
hiv infections	5.39	1	9831196 (1)
necrosis	0	1	10899912 (1)
tumors	0	2	19440365 (1), 19461887 (1)
melanoma	0	1	8344747 (1)

GeneTests: IL2RG

X-Linked Severe Combined Immunodeficiency

Genetic Association Database (GAD): IL2RG
Human Genome Epidemiology (HuGE) Navigator: IL2RG (7 documents)

Export disorders for IL2RG gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for IL2RG gene, integrated from 9 sources (see all 249):
(articles sorted by number of sources associating them with IL2RG)

Utopia: connect your pdf to the dynamic
world of online information

Crystal structure of the IL-2 signaling complex: paradigm for a heterotrimeric cytokine receptor. (PubMed id 16477002)^{1, 2, 7} Stauber D.J.... Wilson I.A. (2006)
Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. (PubMed id 7883965)^{1, 2, 3} Schmalstieg F.C.... Goldman A.S. (1995)
Cloning of the gamma chain of the human IL-2 receptor. (PubMed id 1631559)^{1, 2, 3} Takeshita T.... Sugamura K. (1992)
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. (PubMed id 8401490)^{1, 2, 9} Puck J.M.... Henthorn P.S. (1993)
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. (PubMed id 7668284)^{1, 2, 9} Pepper A.E.... Puck J.M. (1995)
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. (PubMed id 7860773)^{1, 2, 9} Puck J.M.... Laframboise R. (1995)
Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor. (PubMed id 8266077)^{1, 2, 9} Noguchi M....Leonard W.J. (1993)
Limiting {gamma}c expression differentially affects signaling via the interleukin (IL)-7 and IL-15 receptors. (PubMed id 17363735)^{1, 7, 9} Smyth C.M....Alexander I.E. (2007)
Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. (PubMed id 11426455)^{1, 4, 9} Fanos J.H....Puck J.M. (2001)
An interleukin-2 receptor gamma chain mutation with normal thymus morphology. (PubMed id 9399950)^{1, 2, 9} Sharfe N.... Roifman C.M. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3561	HGNC: 6010	AceView: IL2RG	Ensembl:ENSG00000147168	euGenes: HUgn3561
ECgene: IL2RG	Kegg: 3561	H-InvDB: IL2RG

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for IL2RG	Pharmacogenomics, SNPs, Pathways
IL2RGbase	http://research.nhgri.nih.gov/scid/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IL2RG
SeattleSNPs	http://pga.gs.washington.edu/data/il2rg/

Intellectual Property for IL2RG gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for IL2RG gene:
Search GeneIP for patents involving IL2RG

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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interleukin 2 receptor, gamma

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IL2RG Gene

interleukin 2 receptor, gamma

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