The BTK gene homepage

BTKbase is part of the IDbases
General information
Gene symbol BTK
Gene name Bruton tyrosine kinase
Chromosome X
Chromosomal band q21.33-q22
Imprinted Unknown
Genomic reference LRG_128
Transcript reference NM_000061.2
Exon/intron information NM_000061.2 exon/intron table
Associated with diseases IGHD3, XLA
Citation reference(s) PubMed: Väliaho 2006
Refseq URL Genomic reference sequence
Curators (1) Mauno Vihinen
Total number of public variants reported 2304
Unique public DNA variants reported 1047
Individuals with public variants 2242
Hidden variants 110
Download all this gene's data Download all data
Notes We gratefully acknowledge the efforts of Gerard Schaafsma, curating this database until 2021.
Please have a look at the old location as well.
Date created September 13, 2012
Date last updated February 28, 2023
Version BTK:230228

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000061.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 1133
Entrez Gene 695
PubMed articles BTK
OMIM - Gene 300300
OMIM - Diseases IGHD3 (growth hormone deficiency, isolated, type III (IGHD-3, X-linked agammaglobulinemia with growth hormone deficiency)))
GeneCards BTK
GeneTests BTK
Orphanet BTK

Active transcripts




NCBI ID     

NCBI Protein ID     

00000685 X transcript variant 1 NM_000061.2 NP_000052.1 2304

Copyright & disclaimer
Copyright © Protein Structure and Bioinformatics, Lund University 2016. All rights reserved. BTKbase is intellectual property of the Protein Structure and Bioinformatics Group, Lund University. This Database, despite being open to public access, is subject to copyright law. Any unauthorised use, storage, copying or distribution of material contained in the Database without written permission from the curator will lead to copyright infringement with possible ensuing litigation. Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) describes the legal protection of databases. Any use of data contained within this web site must receive appropriate acknowledgement and credit. Published work which refers to the data in BTKbase should cite the article: Väliaho J, Smith CI, Vihinen M. BTKbase: the mutation database for X-Linked agammaglobulinemia. Hum Mutat. 2006 Sep 12;27(12):1209-1217 PubMed and / or URL Accession numbers allow unambiguous citation of database entries. Researchers who wish to cite entries in their publications should always cite the accession number to ensure that readers can find the relevant data in a subsequent release.