Gene
il2rgb
- ID
- ZDB-GENE-080402-2
- Name
- interleukin 2 receptor, gamma b
- Symbol
- il2rgb Nomenclature History
- Previous Names
-
- il2rgc.b (1)
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have cytokine receptor activity and interleukin-2 binding activity. 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 brain; eye; liver; pleuroperitoneal region; and thymus. Orthologous to human IL2RG (interleukin 2 receptor subunit gamma).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
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 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR003531 | Short hematopoietin receptor, family 1, conserved site |
Domain | IPR003961 | Fibronectin type III |
Domain | IPR048651 | Cytokine receptor-like factor 2-like, D1 domain |
Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
Domain Details Per Protein
Protein | Length | Cytokine receptor-like factor 2-like, D1 domain | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin-like fold | Short hematopoietin receptor, family 1, conserved site |
---|---|---|---|---|---|---|
UniProtKB:A0A8M3AGM8
|
391 | |||||
UniProtKB:A8WH91
|
385 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
il2rgb-201
(1)
|
Ensembl | 1,864 nt |
Interactions and Pathways
No data available
Plasmids
No data available