Gene
csf3r
- ID
- ZDB-GENE-080104-4
- Name
- colony stimulating factor 3 receptor
- Symbol
- csf3r Nomenclature History
- Previous Names
-
- gcsfr (2)
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to have cytokine binding activity and cytokine receptor activity. Involved in hemopoiesis and positive regulation of hematopoietic progenitor cell differentiation. Predicted to localize to external side of plasma membrane and receptor complex. Used to study neutropenia and severe congenital neutropenia. Human ortholog(s) of this gene implicated in acute myeloid leukemia; chronic myelomonocytic leukemia; chronic neutrophilic leukemia; myelodysplastic syndrome; and severe congenital neutropenia. Is expressed in several structures, including heart; hematopoietic system; immune system; myeloid cell; and pleuroperitoneal region. Orthologous to human CSF3R (colony stimulating factor 3 receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 22 figures from 15 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 23 figures from 11 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary neutrophilia | Alliance | ?Neutrophilia, hereditary | 162830 |
| severe congenital neutropenia 7 | Alliance | Neutropenia, severe congenital, 7, autosomal recessive | 617014 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR003529 | Long hematopoietin receptor, Gp130 family 2, conserved site |
| Domain | IPR003961 | Fibronectin type III |
| Domain | IPR010457 | Immunoglobulin C2-set-like, ligand-binding |
| Family | IPR050379 | Type I Cytokine Receptor |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin C2-set-like, ligand-binding | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Long hematopoietin receptor, Gp130 family 2, conserved site | Type I Cytokine Receptor |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A8Y5W0
|
810 | |||||||
|
UniProtKB:F1R904
|
810 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available