V3 here soon-try beta now


Gene Search (GeneCards Home)	\|	GeneCards Guide	\|	User Feedback	\|	Terms of Use	\|	Notice about third-party sites

BTK Gene

protein-coding GIFtS: 76

GC0XM100491

Bruton agammaglobulinemia tyrosine kinase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: AGMX1, IMD1)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
AGMX1 ^², ³, ⁵
AT ^², ⁵
ATK ^¹, ², ³
BPK ^², ³
EC 2.7.10.2 ^³
IMD1 ^², ⁵
MGC126261 ^²
MGC126262 ^²
OTTHUMP00000023676 ^²
OTTHUMP00000063593 ^²
PSCTK1 ^¹, ²
XLA ^¹, ², ⁵

Descriptions
Agammaglobulinaemia tyrosine kinase ^³
B-cell progenitor kinase ^², ³
Bruton agammaglobulinemia tyrosine kinase ^²
Bruton tyrosine kinase ^³
dominant-negative kinase-deficient Brutons tyrosine kinase ^²
tyrosine-protein kinase BTK ^²

External Ids
HGNC: 1133¹
Entrez Gene: 695²
UniProtKB: Q06187³
Ensembl: ENSG00000010671⁷

Search outside databases for aliases for BTK gene

Previous GC identifers: GC0XM095896 GC0XM097575 GC0XM098640 GC0XM099376 GC0XM100410

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for BTK:

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]

UniProtKB/Swiss-Prot: BTK_HUMAN, Q06187

Function: Plays a crucial role in B-cell ontogeny. Transiently phosphorylates GTF2I on tyrosine

residues in response to B-cell receptor cross-linking. Required for the formation of functional

ARID3A DNA-binding complexes

Gene Wiki entry for BTK (Bruton's_tyrosine_kinase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the BTK gene

Entrez Gene cytogenetic band: Xq21.33-q22 Ensembl cytogenetic band: Xq22.1 HGNC cytogenetic band: Xq21.33-q22

BTK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM100491: (about GC identifiers)

Start:	100,491,091 bp from pter
End:	100,527,838 bp from pter
Size:	36,748 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000023.9 NT_011651.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: BTK_HUMAN, Q06187 (See protein sequence)

Recommended Name: Tyrosine-protein kinase BTK

Size: 659 amino acids; 76281 Da

Cofactor: Binds 1 zinc ion per subunit

Subunit: Binds GTF2I through the PH domain. Interacts with SH3BP5 via the SH3 domain. Interacts

with IBTK via its PH domain. Interacts with GTF2I and ARID3A

Subcellular location: Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By

similarity). Nucleus (By similarity)

PDB structures from and Proteopedia :

1AWW (3D)

1AWX (3D)

1B55 (3D)

1BTK (3D)

1BWN (3D)

1K2P (3D)

1QLY (3D)

2GE9 (3D)

2Z0P (3D)

Secondary accessions: Q32ML5

Post-translational modifications:

Autophosphorylated on Tyr-223 and Tyr-551. Phosphorylation of Tyr-223 may create a docking site for

a SH2 containing protein (By similarity)¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000052.1

ENSEMBL proteins:

ENSP00000361946 ENSP00000378608 ENSP00000361971 ENSP00000308176 ENSP00000361951 ENSP00000361950

ENSP00000361960

Human Recombinant Proteins

	Invitrogen human recombinant proteins for BTK
	Millipore Purified and/or Recombinant BTK Protein
	Sigma-Aldrich Proteins for BTK
	Browse R&D Systems for human recombinant proteins
	Enzo Life Sciences proteins for BTK
	Recombinant Proteins from Abcam (BTK)
	Human Recombinant Proteins from Abnova (BTK)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	TAS	15046600
GO:0016020	membrane	IEA	--
GO:0045121	membrane raft	IDA	15046600

About this table

Antibodies for BTK:

	Invitrogen Antibodies for BTK
	Millipore Mono- and Polyclonal Antibodies for the study of BTK
	Sigma-Aldrich Antibody Arrays and Antibodies for BTK
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for BTK
	Antibodies from Abcam (BTK), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (BTK)
	Novus Biologicals Antibodies for BTK

Assays for BTK:

	Invitrogen Assays for BTK
	Millipore Kits and Assays for the Analysis of BTK
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q06187

ProtoNet protein and cluster: Q06187

5 Blocks protein families:

IPB000980 SH2 domain signature

IPB001452 SH3 domain signature

IPB001562 Tec/Btk domain signature

IPB001849 Pleckstrin-like

IPB008266 Tyrosine protein kinase

UniProtKB/Swiss-Prot: BTK_HUMAN, Q06187

Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. TEC subfamily

Similarity: Contains 1 Btk-type zinc finger

Similarity: Contains 1 PH domain

Similarity: Contains 1 protein kinase domain

Similarity: Contains 1 SH2 domain

Similarity: Contains 1 SH3 domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BTK)
		Millipore RNAi Products for the Analysis of BTK Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (BTK)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000061

Applied Biosystems Silencer® siRNAs for BTK

Sigma-Aldrich siRNA and siRNA Panels for BTK

Sigma-Aldrich shRNA Panels and shRNA for BTK

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for BTK
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000061
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000061
untagged cDNA clones in CMV expression vector (see all 2): NM_000061

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000061

UniProtKB/Swiss-Prot: BTK_HUMAN, Q06187

Function: Plays a crucial role in B-cell ontogeny. Transiently phosphorylates GTF2I on tyrosine

residues in response to B-cell receptor cross-linking. Required for the formation of functional

ARID3A DNA-binding complexes

Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

Enzyme regulation: Inhibited by IBTK. Activated by phosphorylation

Enzyme Number (IUBMB): EC 2.7.10.2

Genatlas biochemistry entry for BTK:

B cell progenitor tyrosine kinase

5 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Btk):

digestive/alimentary

hematopoietic system

homeostasis/metabolism

immune system

tumorigenesis

5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	--
GO:0005524	ATP binding	TAS	11913944
GO:0008270	zinc ion binding	IEA	--
GO:0016740	transferase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for BTK (Your Favorite Gene powered by Ingenuity) (see all 7 )

Fc&gamma
Role of NFAT in Regulation of the Immune Response
Fc Epsilon RI Signaling
T Cell Receptor Signaling
Leukocyte Extravasation Signaling

GeneDecks BTK for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for BTK

5/90 Interacting proteins for BTK (ENSP00000308176³ Q06187^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 90 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FCER1G	P30273¹	STRING (score=.966) EBI-624835, EBI-515289
GTF2I	P78347¹	STRING (score=.999) EBI-624835, EBI-359622
IBTK	Q9P2D0¹	STRING (score=.992) EBI-624835, EBI-1052017
PRKCQ	Q04759¹	STRING (score=.726) EBI-624835, EBI-374762
SH3BP5	O60239¹	STRING (score=.999) EBI-624835, EBI-624860

About this table

5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006468	protein amino acid phosphorylation	TAS	11913944
GO:0007242	intracellular signaling cascade	TAS	11913944
GO:0007498	mesoderm development	TAS	8013627
GO:0008624	induction of apoptosis by extracellular signals	TAS	8688094
GO:0019722	calcium-mediated signaling	TAS	15046600

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for BTK

Browse Small Molecules at Sigma-Aldrich

Compounds for BTK available from Tocris Bioscience

Compound	Action	CAS number
(-)-Terreic acid	Selective inhibitor of BTK	[121-40-4]
LFM-A13	Potent, selective BTK inhibitor	[62004-35-7]

About this table

10/23 Novoseek chemical compound relationships for BTK gene (see all 23 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	89.19	1180	11413148 (5), 12437073 (5), 7565679 (5), 10051622 (4) (see all 99)
phosphatidylinositol-3,4,5-trisphosphate	76.57	10	11279148 (2), 10201980 (2), 11698416 (1), 12734372 (1) (see all 5)
phosphoinositide	63.24	19	9928954 (3), 16619289 (3), 11756681 (2), 11329620 (1) (see all 12)
piceatannol	59.36	1	15180535 (1)
phosphatidylinositol	58.15	21	12215216 (2), 10201980 (2), 14610042 (1), 18657320 (1) (see all 14)
inositol 1,4,5 trisphosphate	44.76	6	9830001 (1), 10327049 (1), 16547971 (1), 17237388 (1) (see all 5)
phosphotyrosine	43.09	5	10754312 (2), 10051622 (1), 9391111 (1), 7657668 (1)
inositol 1,3,4,5-tetrakisphosphate	42.59	3	8939985 (2), 10196129 (1)
wortmannin	36.11	11	10840066 (2), 11329620 (1), 16619289 (1), 10590061 (1) (see all 6)
calcium	33.94	53	9524120 (5), 11434777 (3), 10840066 (3), 18241233 (3) (see all 23)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BTK)
		Millipore RNAi Products for the Analysis of BTK Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (BTK)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000061

Sigma-Aldrich siRNA and siRNA Panels for BTK

Sigma-Aldrich shRNA Panels and shRNA for BTK

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000061

REFSEQ mRNAs for BTK gene:

NM_000061.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000061

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000061
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000061
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000061

Additional cDNA sequence:

AF153364.1 AF153755.1 AF153756.1 AF153757.1 AF153758.1 AF153759.1 AF153760.1 AF153761.1

AF153762.1 AF153763.1 AF153764.1 AJ888376.1 AJ888377.1 AJ888378.1 AJ888379.1 AJ888380.1

AJ888381.1 AK057105.1 AK225577.1 AK309851.1 AK314382.1 AM051275.1 AM051276.1 AM051277.1

AM051278.1 AM051279.1 AM051280.1 AM051281.1 AM051282.1 AM051283.1 AM051284.1 AM051285.1

AM051286.1 BC109079.1 BC109080.1 X58957.1

9 DOTS entries:

DT.444365 DT.95165288 DT.121325060 DT.432796 DT.86849846 DT.91687758 DT.121325046 DT.112417

DT.446289

24/98 AceView cDNA sequences (see all 98 ):

CA435879 AI361486 BF795127 BM458740 BM925197 BI489714 BQ059300 AA346572

BU619204 CD365313 BP345102 BG106420 BI766828 BM478046 BQ642017 BQ439666

AW402365 AF153757 BM997994 AA207087 AF153763 AL602325 BQ439117 BQ065035

highest scoring ESTs for BTK:

AA346572 AK057105 AL602325 AU100119 AW402365 BE267612 BE560390 BE560685 BE561034 BE561776

Unigene Cluster for BTK:

Bruton agammaglobulinemia tyrosine kinase

Hs.159494 [show with all ESTs]

Unigene Representative Sequence: NM_000061

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for BTK (see all 12 )

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4a	·	4b	^	5a	·	5b	·	5c	^	6	^	7	^	8a	·	8b	^	9	^	10a	·	10b	^	11	^	12a	·	12b	^	13	^	14a	·	14b	·	14c	^	15	^	16	^
SP1:							-		-										-						-
SP2:									-										-						-																						-		-		-
SP3:
SP4:
SP5:							-		-										-						-

ExUns:	17	^	18	^	19a	·	19b	·	19c	^	20a	·	20b	^	21a	·	21b	·	21c	·	21d	·	21e
SP1:					-
SP2:	-				-
SP3:					-								-
SP4:			-		-
SP5:

About this scheme

ECgene alternative splicing isoforms for BTK

7 Ensembl transcripts including schematic representations:

ENST00000372855 ENST00000395179 ENST00000372880 ENST00000308731 ENST00000372860 ENST00000372859

ENST00000372869

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

BTK expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for BTK

¹ / ² / ³

4 probe-sets matching BTK gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
71820_at²^{, 3}	U95-E	1	1.00	1.00	0.90	1.03	AA676706	0.60	1.00	0.82	1
38213_at²^{, 3}	U95-A	1	1.00	1.00	0.96	0.98	U78027	0.20	0.50	0.38	1
205504_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000061	0.60	1.00	0.82	1
205504_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks BTK for binary patterns associated with the probe-sets selected above

About GeneDecksing

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GATGAAGAAT

SOURCE GeneReport for Unigene cluster: Hs.159494
Expression variation in blood from EXPOLDB for BTK

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for BTK gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	BTK¹	--	Bruton agammaglobulinemia tyrosine kinase	94.59(n) 98.63(a)	492019 XM_856738.1 XP_861831.1
chimpanzee (Pan troglodytes)	BTK¹	--	Bruton agammaglobulinemia tyrosine kinase	99.18(n) 99.08(a)	465759 XM_001138546.1 XP_001138546.1
cow (Bos taurus)	BTK¹	--	Bruton agammaglobulinemia tyrosine kinase	93.68(n) 98.63(a)	533459 NM_001034589.1 NP_001029761.1
rat (Rattus norvegicus)	Btk¹	--	Bruton agammaglobulinemia tyrosine kinase	91.05(n) 98.33(a)	367901 NM_001007798.1 NP_001007799.1
mouse (Mus musculus)	Btk^{1, 5}	X (51.00 cM)⁵	Bruton agammaglobulinemia tyrosine kinase^{1, 5}	91.4(n)¹ 98.18(a)¹	12229¹ NM_013482.1¹ NP_038510.1¹ AI528679⁵ AL672064⁵ (see all 31)

About this table Species with no ortholog for BTK

ENSEMBL Gene Tree for BTK

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for BTK gene

TEC² BMX² ITK² TXK²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/188 NCBI SNPs in BTK are shown (see all 188 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 88)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2071229^1,2	C,F,H	100528230(-)	`ACGCTC/TTTCCT`	1	--	ng3¹		4		EU EA WA	418
--	rs35877704^1,2	C	100502373(+)	`GCTGGC/ATCAGG`	1	D/E	mis¹		4		EU EA WA	315
--	rs7474275^1,2	H	100511663(+)	`AATCCA/CCCGCT`	1	W/G	mis¹ ese³		4		EU EA WA	420
--	rs5991928^1,2	C	100529187(+)	`GATGGG/TGTTTC`	1	--	ng3¹		0	--	--	--	--
--	rs1135363^1,2	C	100494847(-)	`AGTTGC/TTGGCA`	1	C/C	syn¹		8		EU EA WA NA	628
	rs2071223^1,2	A,C,F,H,O	100496203(-)	`TGTTAT/CAGTTT`	1	--	int¹		12		EU EA WA NA	929
	rs2239460^1,2	A,C,F,H	100525874(-)	`TATCAC/GTATGA`	1	--	int¹		15		NS EU EA WA NA	918
	rs2238984^1,2	A,C,F,H	100526457(-)	`TAAAAT/CAATGT`	1	--	int¹		4		EU EA WA	418
	rs3747288^1,2	A,C,F,H	100497941(-)	`AAAGGA/GGAAGA`	1	--	int¹ trp³		4		EU EA WA	418
	rs2855259^1,2	C,F,H,O	100502134(-)	`TTCCCG/ATGATC`	1	--	int¹		15		EU EA WA NA	970

About this table

HapMap Linkage Disequilibrium images for BTK (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 300300 disorders: 300755 307200

UniProtKB/Swiss-Prot: BTK_HUMAN, Q06187

Defects in BTK are the cause of X-linked agammaglobulinemia (XLA) [MIM:300755]; also

called X-linked agammaglobulinemia type 1 (AGMX1) or immunodeficiency type 1 (IMD1). XLA is a

humoral immunodeficiency disease which results in developmental defects in the maturation pathway

of B-cells. Affected boys have normal levels of pre-B-cells in their bone marrow but virtually no

circulating mature B-lymphocytes. This results in a lack of immunoglobulins of all classes and

leads to recurrent bacterial infections like otitis, conjunctivitis, dermatitis, sinusitis in the

first few years of life, or even some patients present overwhelming sepsis or meningitis,

resulting in death in a few hours. Treatment in most cases is by infusion of intravenous

immunoglobulin

Defects in BTK may be the cause of X-linked hypogammaglobulinemia and isolated growth

hormone deficiency (XLA-IGHD) [MIM:307200]; also known as agammaglobulinemia and isolated growth

hormone deficiency or Fleisher syndrome or isolated growth hormone deficiency type 3 (IGHD3). In

rare cases XLA is inherited together with isolated growth hormone deficiency (IGHD)

10/37 Novoseek disease relationships for BTK gene (see all 37 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
x-linked agammaglobulinemia	98.81	316	9445504 (2), 17301411 (2), 8162056 (2), 18726917 (2) (see all 99)
agammaglobulinemia	94.44	70	11577078 (3), 8090769 (2), 11698416 (2), 8934542 (2) (see all 33)
hypogammaglobulinemia	78.84	13	11668622 (1), 16862044 (1), 16053733 (1), 19067895 (1) (see all 8)
hypogammaglobulinemia x-linked	75.51	3	16264330 (1), 8364206 (1)
immunodeficiency	74.81	159	7946052 (3), 10844531 (2), 8939985 (2), 10068673 (2) (see all 93)
common variable immunodeficiency	70.73	6	10844531 (1), 11472409 (1), 17024564 (1), 18051214 (1) (see all 5)
mohr-tranebjaerg syndrome	69.74	1	17851739 (1)
wiskott-aldrich syndrome	57.45	6	11557038 (1), 16460447 (1), 10068673 (1), 9191173 (1)
leukemia mast cell	57.16	1	8283037 (1)
hyper-igm syndrome	55.45	2	11987983 (1)

About this table

1 PharmGKB disease relationship for BTK gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12730115

About this table

GeneTests: BTK

X-Linked Agammaglobulinemia

Human Gene Mutation Database: BTK
Genetic Association Database: BTK
Human Genome Epidemiology Navigator: BTK (2 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/486 PubMed articles for BTK gene (see all 486 ):

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. (PubMed id 8380905)^{2, 3, 4} Vetrie D.... Bentley D.R. (1993)
Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia. (PubMed id 9218782)^{1, 3, 4} Hyvoenen M. and Saraste M. (1997)
Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan. (PubMed id 8695804)^{1, 3, 4} Hashimoto S....Kishimoto T. (1996)
Mutations in btk in patients with presumed X-linked agammaglobulinemia. (PubMed id 9545398)^{1, 3, 4} Conley M.E.... Rohrer J. (1998)
BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. (PubMed id 9012831)^{1, 3, 4} Yang W. and Desiderio S. (1997)
Molecular and structural characterization of five novel mutations in the Bruton's tyrosine kinase gene from patients with X-linked agammaglobulinemia. (PubMed id 9260159)^{1, 3, 4} Saha B.K.... Vihinen M. (1997)
Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. (PubMed id 7626884)^{1, 3, 4} Oeltjen J.C....Gibbs R.A. (1995)
Direct inhibition of Bruton's tyrosine kinase by IBtk, a Btk-binding protein. (PubMed id 11577348)^{1, 3, 4} Liu W.... Scala G. (2001)
Identification and characterization of a novel SH3-domain binding protein, Sab, which preferentially associates with Bruton's tyrosine kinase (Btk). (PubMed id 9571151)^{1, 3, 4} Matsushita M.... Tsukada S. (1998)
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. (PubMed id 7849697)^{1, 3, 4} Conley M.E....Rohrer J. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 695	HGNC: 1133	AceView: BTK	Ensembl:ENSG00000010671	euGenes: HUgn695
ECgene: BTK	H-InvDB: BTK

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for BTK	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=BTK

Licensable Technologies for BTK
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for BTK:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for BTK-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for BTK		Antibodies for BTK
	Explore super-pooled esiRNAs		Proteins for BTK
	Lentivirus-delivered shRNAs for BTK		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (BTK)
	Antibodies (BTK)
	Chimera RNAi (BTK)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for BTK

	Recombinant Proteins (BTK)
	Antibodies (BTK)

Search OriGene for BTK

Tocris compounds for BTK

	Drugs/Proteins for BTK
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for BTK

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
BTK Gene at Home site.
Version 2.41.1
server4.xennexinc.com

BTK Gene

protein-coding GIFtS: 76

Aliases &
Descriptions
for BTK

Summaries
for BTK

Genomic Location
for BTK

Proteins
for BTK

Protein Domains/
Families
for BTK

Gene Function
for BTK

Pathways & Interactions
for BTK

Drugs & Compounds
for BTK

Transcripts
for BTK

Expression
for BTK

Orthologs
for BTK

Paralogs
for BTK

SNPs/Variants
for BTK

Disorders & Mutations
for BTK

Medical News
for BTK

Publications
for BTK

Search for BTK

Genome Databases showing BTK

Other Databases showing BTK

Specialized Databases showing BTK

Licensable Technologies
for BTK

Services
for BTK

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

BTK Gene

protein-coding GIFtS: 76

Aliases & Descriptionsfor BTK

Summariesfor BTK

Genomic Locationfor BTK

Proteinsfor BTK

Protein Domains/Familiesfor BTK

Gene Functionfor BTK

Pathways & Interactionsfor BTK

Drugs & Compoundsfor BTK

Transcriptsfor BTK

Expression for BTK

Orthologsfor BTK

Paralogsfor BTK

SNPs/Variantsfor BTK

Disorders & Mutationsfor BTK

Medical Newsfor BTK

Publicationsfor BTK

Search for BTK

Genome Databases showing BTK

Other Databases showing BTK

Specialized Databases showing BTK

Licensable Technologiesfor BTK

Servicesfor BTK

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for BTK

Summaries
for BTK

Genomic Location
for BTK

Proteins
for BTK

Protein Domains/
Families
for BTK

Gene Function
for BTK

Pathways & Interactions
for BTK

Drugs & Compounds
for BTK

Transcripts
for BTK

Expression
for BTK

Orthologs
for BTK

Paralogs
for BTK

SNPs/Variants
for BTK

Disorders & Mutations
for BTK

Medical News
for BTK

Publications
for BTK

Licensable Technologies
for BTK

Services
for BTK