Gene
csf1rb
- ID
- ZDB-GENE-091118-1
- Name
- colony stimulating factor 1 receptor, b
- Symbol
- csf1rb Nomenclature History
- Previous Names
-
- si:ch1073-368i11.1
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have transmembrane receptor protein tyrosine kinase activity. Involved in regulation of odontogenesis and regulation of osteoclast development. Predicted to localize to integral component of plasma membrane and receptor complex. Is expressed in heart; microglial cell; osteoclast; and scale. Human ortholog(s) of this gene implicated in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia and renal cell carcinoma. Orthologous to human CSF1R (colony stimulating factor 1 receptor).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 7 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | Alliance | Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 221820 |
Brain abnormalities, neurodegeneration, and dysosteosclerosis | 618476 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Active_site | IPR008266 | Tyrosine-protein kinase, active site |
Binding_site | IPR017441 | Protein kinase, ATP binding site |
Conserved_site | IPR001824 | Tyrosine-protein kinase, receptor class III, conserved site |
Domain | IPR000719 | Protein kinase domain |
Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
Domain | IPR003598 | Immunoglobulin subtype 2 |
Domain | IPR003599 | Immunoglobulin domain subtype |
Domain | IPR007110 | Immunoglobulin-like domain |
Domain | IPR013098 | Immunoglobulin I-set |
Domain | IPR020635 | Tyrosine-protein kinase, catalytic domain |
Family | IPR030658 | Macrophage colony-stimulating factor 1 receptor |
Family | IPR050122 | Receptor Tyrosine Kinase |
Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
Protein | Length | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Macrophage colony-stimulating factor 1 receptor | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Receptor Tyrosine Kinase | Serine-threonine/tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, receptor class III, conserved site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M3AX73
|
961 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
csf1rb-201
(1)
|
Ensembl | 2832 nt | |
mRNA |
csf1rb-202
(1)
|
Havana | 2894 nt |
Interactions and Pathways
No data available
Plasmids
No data available