About   Help   FAQ
Btk Gene Detail
 Symbol
Name
ID
Btk
Bruton agammaglobulinemia tyrosine kinase
MGI:88216


Nomenclature History
Synonyms Bruton's tyrosine kinase, X-linked immune deficiency, xid
Genetic Map
Chromosome X
51.0 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 19)

Sequence Map
ChrX:131076875-131118109 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Btk ± 2 cM)
Protein SuperFamily: tyrosine-protein kinase, TEC type
TreeFam: TF315363
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000019307 VEGA Gene Model | MGI Sequence Detail 41235 C57BL/6J ± Kb
transcript NM_013482 RefSeq | MGI Sequence Detail 2535 C57BL/6
polypeptide P35991 UniProt | EBI | MGI Sequence Detail 659 Not Applicable
For the selected sequences
All sequences(37)
Alleles
and
phenotypes
All alleles(733) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(729) Spontaneous(1)
Mutants have immune defects including reduced B cell numbers, serum immunoglobulin deficiencies, and defective responses to B cell activators and thymus-independent antigens. B-1 B cells are absent in these mice.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (2)  
Polymorphisms RFLP(3) SNPs within 2kb(165 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(20)
Process cell maturation, I-kappaB kinase/NF-kappaB cascade...
Component cytoplasm, cytoplasmic vesicle...
Function ATP binding, kinase activity...
External Resources: MouseFunc
Expression Literature Summary: (2 records)
Data Summary: Assays (2)    Results (2)    Tissues (2)    Images (2)
Theiler Stages: 22,28
  Assay Type Assays   Results
      RT-PCR 1   1
      RNA in situ 1   1
cDNA source data(30)
External Resources: Allen Brain Atlas  GENSAT  GEO 
Molecular
reagents
All nucleic(53) Genomic(18) cDNA(32) Primer pair(2) Other(1)
Microarray probesets(2)
Other database
links
EC 2.7.10.2
Ensembl Gene Model ENSMUSG00000031264
DoTS DT.530705, DT.91442424
UniGene 4475
DFCI TC1582299
NIA Mouse Gene Index U039703
Entrez Gene 12229
VEGA Gene Model OTTMUSG00000019307
International Mouse Knockout Project Status Btk
Protein
domains
InterPro ID Description
IPR000719 Protein kinase, catalytic domain
IPR000980 SH2 motif
IPR001245 Tyrosine-protein kinase, catalytic domain
IPR001452 Src homology-3 domain
IPR001562 Zinc finger, Btk motif
IPR001849 Pleckstrin homology
IPR008266 Tyrosine-protein kinase, active site
IPR011009 Protein kinase-like domain
IPR011993 Pleckstrin homology-type
IPR017441 Protein kinase, ATP binding site
IPR020473 Src homology-3, region
IPR020635 Tyrosine-protein kinase, subgroup, catalytic domain
Graphical View of Protein Domain Structure
References
(Earliest) J:34558 Scher I et al., "X-linked B-lymphocyte immune defect in CBA/N mice. II. Studies of the mechanisms underlying the immune defect." J Exp Med 1975 Sep 1;142(3):637-50
(Latest) J:154200 Schmidt U et al., "The protein tyrosine kinase Tec regulates mast cell function." Eur J Immunol 2009 Aug 17;39(11):3228-3238
All references(250)
Other
accession IDs
MGD-MRK-15473, MGD-MRK-1683, MGI:2147899

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/20/2009
MGI_4.31
Web browser compatibility
The Jackson Laboratory