Gene
btk
- ID
- ZDB-GENE-070531-1
- Name
- Bruton agammaglobulinemia tyrosine kinase
- Symbol
- btk Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable non-membrane spanning protein tyrosine kinase activity. Acts upstream of or within anterior/posterior pattern specification; negative regulation of Wnt signaling pathway; and regulation of canonical Wnt signaling pathway. Predicted to be located in cytosol. Predicted to be active in plasma membrane. Is expressed in hematopoietic system. Human ortholog(s) of this gene implicated in agammaglobulinemia (multiple); isolated growth hormone deficiency type III; and lymphoma (multiple). Orthologous to human BTK (Bruton tyrosine kinase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from James et al., 2009
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from James et al., 2009
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| isolated growth hormone deficiency type III | Alliance | Isolated growth hormone deficiency, type III, with agammaglobulinemia | 307200 |
| X-linked agammaglobulinemia | Alliance | Agammaglobulinemia, X-linked 1 | 300755 |
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 | IPR001562 | Zinc finger, Btk motif |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR000980 | SH2 domain |
| Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
| Domain | IPR001452 | SH3 domain |
| Domain | IPR001849 | Pleckstrin homology domain |
| Domain | IPR020635 | Tyrosine-protein kinase, catalytic domain |
| Family | IPR050198 | Non-receptor tyrosine kinases involved in cell signaling |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
| Homologous_superfamily | IPR036860 | SH2 domain superfamily |
Domain Details Per Protein
| Protein | Length | Non-receptor tyrosine kinases involved in cell signaling | PH-like domain superfamily | Pleckstrin homology domain | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine-threonine/tyrosine-protein kinase, catalytic domain | SH2 domain | SH2 domain superfamily | SH3 domain | SH3-like domain superfamily | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, catalytic domain | Zinc finger, Btk motif |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F8W3B7
|
640 | ||||||||||||||
|
UniProtKB:A0A8N7UW23
|
640 |
Interactions and Pathways
No data available
Plasmids
No data available