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:100604435-100641212 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human BTK

Alleles and phenotypes

All alleles(741) : Targeted(4) Gene trapped(735) Spontaneous(1) Chemically induced(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.

 
Human Diseases Modeled Using Mouse Btk (1)    Alleles Annotated to Human Diseases(3)   

Gene Ontology (GO) classifications

All GO classifications: (44 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 Type	Results
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 Model	OTTMUSG00000019307 (Evidence)
Ensembl Gene Model	ENSMUSG00000031264 (Evidence)
Entrez Gene	12229 (Evidence)
UniGene	4475
DFCI	TC1582299
DoTS	DT.530705, DT.91442424
NIA Mouse Gene Index	U039703
EC	2.7.10.2
Consensus CDS Project	CCDS30396.1
International Mouse Knockout Project Status	Btk

Sequences

Length	Strain/Species
genomic	OTTMUSG00000019307	VEGA Gene Model | MGI Sequence Detail	41235	C57BL/6J
transcript	OTTMUST00000046138	VEGA | MGI Sequence Detail	2540	Not Applicable
polypeptide	OTTMUSP00000020834	VEGA | MGI Sequence Detail	659	Not Applicable

All sequences(53) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(3) : SNPs within 2kb(187 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR001849	Pleckstrin homology domain
InterPro	IPR011993	Pleckstrin homology-like domain
InterPro	IPR017441	Protein kinase, ATP binding site
InterPro	IPR000719	Protein kinase 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:193615 Crane DD, et al., B1a Cells Enhance Susceptibility to Infection with Virulent Francisella tularensis via Modulation of NK/NKT Cell Responses. J Immunol. 2013 Mar 15;190(6):2756-66
All references(311)

Other accession IDs

MGD-MRK-15473, MGD-MRK-1683, MGI:2147899