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Gene: BTK (Bruton tyrosine kinase) Homo sapiens
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Symbol: BTK
Name: Bruton 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: agammaglobulinaemia tyrosine kinase; AGMX1; AT; ATK; B-cell progenitor kinase; BPK; Bruton agammaglobulinemia tyrosine kinase; Bruton's tyrosine kinase; dominant-negative kinase-deficient Brutons tyrosine kinase; IGHD3; IMD1; MGC126261; MGC126262; PSCTK1; truncated Bruton agammaglobulinemia tyrosine kinase; tyrosine-protein kinase BTK; tyrosine-protein kinase BTK isoform (lacking exon 13 to 17); tyrosine-protein kinase BTK isoform (lacking exon 14); XLA
Orthologs:
Mus musculus (house mouse) : Btk (Bruton agammaglobulinemia tyrosine kinase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Btk (Bruton tyrosine kinase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Btk (Bruton tyrosine kinase)
Pan paniscus (bonobo/pygmy chimpanzee) : BTK (Bruton tyrosine kinase)
Canis lupus familiaris (dog) : BTK (Bruton tyrosine kinase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Btk (Bruton tyrosine kinase)
Sus scrofa (pig) : BTK (Bruton tyrosine kinase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X101,349,447 - 101,390,796 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X100,604,435 - 100,641,212 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,491,098 - 100,527,838 (-)NCBINCBI36hg18NCBI36
Build 34X100,410,586 - 100,447,327NCBI
CeleraX101,123,894 - 101,160,669 (-)NCBI
Cytogenetic MapXq22.1NCBI
HuRefX90,410,583 - 90,447,505 (-)NCBIHuRef
CHM1_1X100,497,918 - 100,539,264 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on BTK
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1342660
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.