Gene
il7r
- ID
- ZDB-GENE-080110-7
- Name
- interleukin 7 receptor
- Symbol
- il7r Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have cytokine receptor activity. Involved in several processes, including hematopoietic or lymphoid organ development; myelination; and positive regulation of receptor signaling pathway via JAK-STAT. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in severe combined immunodeficiency and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive. Is expressed in T cell; brain; lymphoid progenitor cell; and thymus. Orthologous to human IL7R (interleukin 7 receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive | Alliance | Immunodeficiency 104, severe combined | 608971 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Immunoglobulin-like fold | Short hematopoietin receptor, family 1, conserved site |
|---|---|---|---|
|
UniProtKB:E9QDP8
|
372 | ||
|
UniProtKB:A8WH87
|
334 |
Interactions and Pathways
No data available
Plasmids
No data available