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 have ATP binding activity; metal ion binding activity; and non-membrane spanning protein tyrosine kinase activity. Involved in anterior/posterior pattern specification; negative regulation of Wnt signaling pathway; and regulation of canonical Wnt signaling pathway. Human ortholog(s) of this gene implicated in X-linked agammaglobulinemia; agammaglobulinemia; isolated growth hormone deficiency type III; and mantle cell lymphoma. Is expressed in hematopoietic system. 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 |
| 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 | 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