BTK Bruton tyrosine kinase

Gene ID: 695, updated on 2-Nov-2024
Gene type: protein coding
Also known as: AT; ATK; BPK; XLA; IMD1; AGMX1; IGHD3; PSCTK1

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
X-linked agammaglobulinemia MedGen: C0221026OMIM: 300755GeneReviews: X-Linked Agammaglobulinemia	See labs
X-linked agammaglobulinemia with growth hormone deficiency MedGen: C0472813OMIM: 307200GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-03-24) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-24) ClinGen Genome Curation PagePubMed

Genomic context

Location:: Xq22.1

Sequence:: Chromosome: X; NC_000023.11 (101349450..101390796, complement)

Total number of exons:: 21

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for BTK variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

BTK @ LOVD
Catalogue of Somatic Mutations in Cancer (COSMIC)
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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