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	http://structure.bmc.lu.se/idbase/BTKbase
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))) XLA (AGMX1)
HGMD	BTK
GeneCards	BTK
GeneTests	BTK
Orphanet	BTK

Active transcripts

Legend

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How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
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 http://databases.lovd.nl/shared/genes/BTK 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.

Global Variome shared LOVD

BTK (Bruton tyrosine kinase)