Gene
il2rga
- ID
- ZDB-GENE-080402-1
- Name
- interleukin 2 receptor, gamma a
- Symbol
- il2rga Nomenclature History
- Previous Names
-
- il2rgc.a (1)
- si:dkey-18a10.4
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have cytokine receptor activity and interleukin-2 binding activity. Involved in lymphocyte differentiation. Predicted to localize to external side of plasma membrane and receptor complex. Human ortholog(s) of this gene implicated in X-linked severe combined immunodeficiency; combined T cell and B cell immunodeficiency; and severe combined immunodeficiency. Is expressed in several structures, including eye; heart; liver; pleuroperitoneal region; and thymus. Orthologous to human IL2RG (interleukin 2 receptor subunit gamma).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| X-linked severe combined immunodeficiency | Alliance | Severe combined immunodeficiency, X-linked | 300400 |
| Combined immunodeficiency, X-linked, moderate | 312863 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| severe combined immunodeficiency | il2rgamdu2/mdu2 | standard conditions | Sertori et al., 2022 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin-like fold | Short hematopoietin receptor, family 1, conserved site |
|---|---|---|---|---|---|
|
UniProtKB:A8WH93
|
362 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
il2rga-201
(1)
|
Ensembl | 1,135 nt |
Interactions and Pathways
No data available
Plasmids
No data available