IL2RG Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | IL2RG |
| Official Name | interleukin 2 receptor subunit gamma [Source:HGNC Symbol;Acc:HGNC:6010] |
| Ensembl ID | ENSG00000147168 |
| Bio databases IDs | |
| Aliases | interleukin 2 receptor subunit gamma |
| Synonyms | Ab2-183, CD132, Cgamma chain, CIDX, common cytokine receptor γ chain, Common Gamma Chain Receptor, Common γ Chain, Common γ Chain Receptor, Cr gamma, Cr γ, CYTOKINE receptor COMMON gamma CHAIN, CYTOKINE receptor COMMON γ CHAIN, Cγ chain, gamma(c), gc, [g]c, IL-12R gamma, IL-12R γ, IL15RG, IL-2/15R gamma, IL-2/15R γ, Il-2 receptor γ c, IL2R gamma, IL2R γ, IL7 Rgamma, IMD4, interleukin 2 receptor, gamma chain, interleukin 2 receptor subunit gamma, interleukin 2 receptor subunit γ, interleukin 2 receptor, γ chain, P64, SCIDX, SCIDX1, γ C, γ(c), γ chain |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human IL2RG often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- interleukin-4 receptor
- interleukin-7 receptor
- protein binding
- Fibronectin type 3 domain
- proline tyrosine motif
- interleukin-2 receptor
- interleukin-2 binding
- PEST domain
- cytoplasmic domain
- FN3
- interleukin-15 receptor
- transmembrane domain
- intracellular domain
- membrane-proximal domain
- transmembrane receptor
- coreceptor
Pathways
Biological processes and signaling networks where the IL2RG gene in human plays a role, providing insight into its function and relevance in health or disease.
- Crosstalk between Dendritic Cells and Natural Killer Cells
- FAK Signaling
- Glucocorticoid Receptor Signaling
- iCOS-iCOSL Signaling in T Helper Cells
- IL-15 Signaling
- IL-2 Signaling
- IL-4 Signaling
- IL-7 Signaling Pathway
- IL-9 Signaling
- Molecular Mechanisms of Cancer
- p70S6K Signaling
- Primary Immunodeficiency Signaling
- Role of JAK1 and JAK3 in γc Cytokine Signaling
- STAT3 Pathway
- T Helper Cell Differentiation
- Telomerase Signaling
- Th1 and Th2 Activation Pathway
- Th2 Pathway
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- metastasis
- diabetic nephropathy
- fibrosis
- non-Hodgkin lymphoma
- acute myeloid leukemia
- X-linked severe combined immunodeficiency
- cutaneous melanoma
- M7 childhood acute myeloid leukemia
- high risk neuroblastoma
role in cell
- growth
- expression in
- production in
- proliferation
- phosphorylation in
- survival
- loss
- apoptosis
- activation
- number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- Cytoplasm
- cell surface
- cellular membrane
- endosomes
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- cell-cell contacts
- cytosol
- plasma membrane extracellular face
- nucleoplasm
- early endosomes
- membrane rafts
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IL2RG gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- interleukin-9-mediated signaling pathway
- cellular homeostasis
- interleukin-4-mediated signaling pathway
- interleukin-2-mediated signaling pathway
- positive regulation of T cell differentiation in thymus
- signal transduction
- T cell differentiation in thymus
- interleukin-7-mediated signaling pathway
- CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation
- positive regulation of B cell differentiation
- mature B cell differentiation
- immune response
- cytokine-mediated signaling pathway
- positive regulation of gene expression
- interleukin-15-mediated signaling pathway
- gene expression
- positive regulation of phagocytosis
- positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation
Cellular Component
Where in the cell the gene product is active
- endosome
- membrane
- external side of plasma membrane
- cytosol
- endoplasmic reticulum
- receptor complex
- plasma membrane
- cell surface
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- coreceptor activity
- interleukin-2 receptor activity
- protein binding
- interleukin-4 receptor activity
- interleukin-15 receptor activity
- interleukin-7 receptor activity
- cytokine receptor activity
- cytokine binding
- interleukin-2 binding