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
Expression
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
Phenotype
All Phenotype Data
1 Figure from James et al., 2009
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa13221Allele with one point mutationUnknownSplice SiteENU
sa15417Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-btkN/AJames et al., 2009
MO2-btkN/AJames et al., 2009
MO3-btkN/AWang et al., 2021
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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
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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
1 - 5 of 14 Show all
Domain Details Per Protein
Protein Additional Resources 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 InterPro 640
UniProtKB:A0A8N7UW23 InterPro 640
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 14
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA btk-201 (1) Ensembl 2,634 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-127L12
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanBTKX
Conserved genome location (synteny) (2)
Amino acid sequence comparison (1)
Citations
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