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 enable growth factor binding activity and macrophage colony-stimulating factor receptor activity. Acts upstream of or within hemopoiesis; regulation of odontogenesis; and regulation of osteoclast development. Predicted to be located in membrane. Predicted to be part of CSF1-CSF1R complex and receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including cardiovascular system; caudal hematopoietic tissue; immune system; osteoclast; and scale. Human ortholog(s) of this gene implicated in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; diabetes mellitus; gastrointestinal system cancer (multiple); lung cancer (multiple); and renal cell carcinoma. Orthologous to human CSF1R (colony stimulating factor 1 receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 5 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 |
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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 |
1 - 5 of 15 Show all
Domain Details Per Protein
| Protein | Additional Resources | 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 | InterPro | 961 |
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- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
csf1rb-201
(1)
|
Ensembl | 2,832 nt | ||
| mRNA |
csf1rb-202
(1)
|
Ensembl | 2,894 nt |
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Interactions and Pathways
No data available
Plasmids
No data available