IL2RG
Cytokine receptor common subunit gamma
Also known as: CD132, CIDX, IL2RG_HUMAN, IMD4, SCIDX1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P31785
- Gene
- IL2RG
- Ensembl
- ENSG00000147168
- Chromosome
- X
- Canonical length
- 369 aa
- Protein class
- Cancer-related genes, CD markers, Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Plasma membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
369 residues, UniProt reviewed canonical sequence.
>P31785|IL2RG
1 MLKPSLPFTS LLFLQLPLLG VGLNTTILTP NGNEDTTADF FLTTMPTDSL SVSTLPLPEV
61 QCFVFNVEYM NCTWNSSSEP QPTNLTLHYW YKNSDNDKVQ KCSHYLFSEE ITSGCQLQKK
121 EIHLYQTFVV QLQDPREPRR QATQMLKLQN LVIPWAPENL TLHKLSESQL ELNWNNRFLN
181 HCLEHLVQYR TDWDHSWTEQ SVDYRHKFSL PSVDGQKRYT FRVRSRFNPL CGSAQHWSEW
241 SHPIHWGSNT SKENPFLFAL EAVVISVGSM GLIISLLCVY FWLERTMPRI PTLKNLEDLV
301 TEYHGNFSAW SGVSKGLAES LQPDYSERLC LVSEIPPKGG ALGEGPGASP CNQHSPYWAP
361 PCYTLKPETLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IL2RG can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.45
- Highest tissue expression
- 318 nTPM
Expression across tissuesHPA
Tissue
- thymus: 318 nTPM
- tonsil: 283 nTPM
- lymph node: 217 nTPM
- appendix: 124 nTPM
- spleen: 110 nTPM
- rectum: 109 nTPM
Single-cell type
- nk-cells: 11 nCPM
- plasma cells: 9.3 nCPM
- innate lymphoid cells: 7.7 nCPM
- neutrophils: 7.4 nCPM
- t-cells: 6.8 nCPM
- b-cells: 3.2 nCPM
Immune cell
- total PBMC: 1,449 nTPM
- T-reg: 1,387 nTPM
- memory CD8 T-cell: 1,213 nTPM
- gdT-cell: 1,177 nTPM
- NK-cell: 1,164 nTPM
- MAIT T-cell: 1,152 nTPM
Brain region
- cerebral cortex: 8.2 nTPM
- pons: 4.5 nTPM
- white matter: 3.4 nTPM
- choroid plexus: 3.2 nTPM
- medulla oblongata: 3.2 nTPM
- spinal cord: 2.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IL2RG.
Disease | AllUniProt
Conditions IL2RG is implicated in, by any mechanism.
- Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) MIM:300400
- X-linked combined immunodeficiency (XCID) MIM:312863
Disease | GeneticClinVar
165 pathogenic / likely-pathogenic of 561 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- X-linked severe combined immunodeficiency
- Combined immunodeficiency, X-linked
- Nonpapillary renal cell carcinoma
- SCID with features of gamma chain deficiency
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.21
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 1.49
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation
- cellular homeostasis
- cytokine-mediated signaling pathway
- gene expression
- immune response
- interleukin-15-mediated signaling pathway
- interleukin-2-mediated signaling pathway
- interleukin-4-mediated signaling pathway
- interleukin-7-mediated signaling pathway
- interleukin-9-mediated signaling pathway
- lymphocyte differentiation
- positive regulation of B cell differentiation
- positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation
- positive regulation of immunoglobulin production
- positive regulation of phagocytosis
- positive regulation of T cell differentiation in thymus
- signal transduction
- T cell differentiation in thymus
- mature B cell differentiation
Molecular functions
- coreceptor activity
- cytokine binding
- cytokine receptor activity
- interleukin-15 receptor activity
- interleukin-2 binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Short hematopoietin receptor, family 1, conserved site
- Fibronectin type III
- Immunoglobulin-like fold
- Fibronectin type III superfamily
- Cytokine receptor-like factor 2-like, D2 domain
- Cytokine receptor-like factor 2-like, domain 1
- Cytokine receptor-like factor 2-like, D2 domain
- Cytokine receptor-like factor 2, domain 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of IL2RG in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IL2RG as an antibody target. Whether an autoantibody or antibody against IL2RG could matter depends on whether native IL2RG is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IL2RG is annotated at the cell surface, where native IL2RG is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label IL2RG as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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