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Btk
Gene Detail
 Symbol
Name
ID
Btk
Bruton agammaglobulinemia tyrosine kinase
MGI:88216
Synonyms Bruton's tyrosine kinase, xid, X-linked immune deficiency
Feature Type protein coding gene
Genetic Map
Chromosome X
56.18 cM
Detailed Genetic Map ± 1 cM


Mapping data(19)
Sequence Map
ChrX:134542336-134583570 bp, - strand
From VEGA annotation of GRCm38

  41235 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:30953  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: tyrosine-protein kinase, TEC type
Gene Tree: Btk

Human
homologs
Human Homolog BTK, Bruton agammaglobulinemia tyrosine kinase
NCBI Gene ID 695
neXtProt AC  NX_Q06187
Human Synonyms  AGMX1, AT, ATK, BPK, IMD1, PSCTK1, XLA
Human Chr (Location)  Xq21.33-q22; chrX:101349447-101390796 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human BTK
Alleles
and
phenotypes
All alleles(743) : Chemically induced (ENU)(3) Gene trapped(735) Spontaneous(1) Targeted(4)
Incidental mutations (data from APF )
 
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.
 
Human Diseases Modeled Using Mouse Btk (1)    Alleles Annotated to Human Diseases(3)   
Gene Ontology
(GO)
classifications
All GO classifications: (49 annotations)
Process apoptotic process, cell maturation, ...
Component cytoplasm, cytoplasmic vesicle, ...
Function ATP binding, identical protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (28)    Tissues (5)    Images (22)
Theiler Stages: 22, 23, 28
Assay TypeResults
RNA in situ 27
RT-PCR 1
cDNA source data(30)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(53) Genomic(18) cDNA(32) Primer pair(2) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000019307 (Evidence)
Ensembl Gene ModelENSMUSG00000031264 (Evidence)
Entrez Gene12229 (Evidence)
UniGene4475
DFCITC1582299
DoTSDT.530705, DT.91442424
NIA Mouse Gene IndexU039703
EC2.7.10.2
Consensus CDS ProjectCCDS30396.1
International Mouse Knockout Project StatusBtk
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019307 VEGA Gene Model | MGI Sequence Detail 41235 C57BL/6J ±  kb
transcript OTTMUST00000046138 VEGA | MGI Sequence Detail 2540 Not Applicable 
polypeptide OTTMUSP00000020834 VEGA | MGI Sequence Detail 659 Not Applicable 

For the selected sequences
All sequences(59) RefSeq(8) UniProt(3)
Polymorphisms RFLP(3) : SNPs within 2kb(187 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001849 Pleckstrin homology domain
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR017441 Protein kinase, ATP binding site
InterPro IPR000719 Protein kinase, catalytic domain
InterPro IPR011009 Protein kinase-like domain
InterPro IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
InterPro IPR000980 SH2 domain
InterPro IPR001452 Src homology-3 domain
InterPro IPR008266 Tyrosine-protein kinase, active site
InterPro IPR020635 Tyrosine-protein kinase, catalytic domain
InterPro IPR001562 Zinc finger, Btk motif
Protein Ontology PR:000002110 tyrosine-protein kinase BTK
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:208412 Stadhouders R, et al., Pre-B cell receptor signaling induces immunoglobulin kappa locus accessibility by functional redistribution of enhancer-mediated chromatin interactions. PLoS Biol. 2014 Feb;12(2):e1001791
All references(321)
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
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory