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. Is expressed in hematopoietic system. Human ortholog(s) of this gene implicated in X-linked agammaglobulinemia; agammaglobulinemia; isolated growth hormone deficiency type III; and mantle cell lymphoma. Orthologous to human BTK (Bruton tyrosine kinase).
Genome Resources
Note
None
Expression
All Expression Data
from James et al., 2009
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
Fig. 4 from James et al., 2009
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With btk Human Ortholog
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
Associated With btk Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations