Gene: BTK (Bruton agammaglobulinemia tyrosine kinase)  Homo sapiens

Symbol: BTK
Name: Bruton agammaglobulinemia tyrosine kinase
Description: The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. [provided by RefSeq, Nov 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: agammaglobulinaemia tyrosine kinase; AGMX1; AT; ATK; B-cell progenitor kinase; BPK; dominant-negative kinase-deficient Brutons tyrosine kinase; IMD1; MGC126261; MGC126262; OTTHUMP00000023676; OTTHUMP00000023677; PSCTK1; tyrosine-protein kinase BTK; tyrosine-protein kinase BTK isoform (lacking exon 14); XLA
Orthologs: Mus musculus : Btk (Bruton agammaglobulinemia tyrosine kinase)  MGI
Rattus norvegicus : Btk (Bruton agammaglobulinemia tyrosine kinase)
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_1X100,571,433 - 100,608,208-NCBI
Human Genome Assembly HuRefX90,410,583 - 90,447,505-NCBI
Human Genome Assembly GRCh37X100,604,435 - 100,641,212-NCBI
Human Genome Assembly Build 36X100,491,098 - 100,527,838-NCBI
Human Cytogenetic MapXq21.33-q22 NCBI
Human Genome AssemblyX100,410,586 - 100,447,327 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
 
More on BTK
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 1342660
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2013-03-26
Status: ACTIVE