Gene Page: BTK

Summary ?
GeneID695
SymbolBTK
SynonymsAGMX1|AT|ATK|BPK|IMD1|PSCTK1|XLA
DescriptionBruton tyrosine kinase
ReferenceMIM:300300|HGNC:HGNC:1133|Ensembl:ENSG00000010671|HPRD:02248|Vega:OTTHUMG00000022022
Gene typeprotein-coding
Map locationXq21.33-q22
Fetal beta-0.881

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Kranz_2015Whole Exome Sequencing and Targeted SequencingDNMs in 5 genes were identified through WES and independently validated through TS in this study
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.1022 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
BTKchrX100615568CTNM_000061p.R255Qnonsynonymous SNV1.286PSchizophreniaDNM:Kranz_2015


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
NUSAP10.990.85
TPX20.990.83
KIF4A0.990.84
BUB1B0.990.86
CCNB20.990.87
MELK0.990.84
KIF230.990.80
PRC10.980.66
CCNA20.980.84
EXO10.980.78
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
SLC9A3R2-0.40-0.55
FBXO2-0.40-0.71
HLA-F-0.39-0.77
PTH1R-0.39-0.71
C5orf53-0.39-0.69
ASPHD1-0.38-0.59
TNFSF12-0.38-0.68
ALDOC-0.38-0.73
LHPP-0.38-0.63
AIFM3-0.37-0.72

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0005515protein bindingIEA-
GO:0005524ATP bindingIEA-
GO:0005524ATP bindingTAS11913944 
GO:0004713protein tyrosine kinase activityIEA-
GO:0004715non-membrane spanning protein tyrosine kinase activityIEA-
GO:0016740transferase activityIEA-
GO:0008270zinc ion bindingIEA-
GO:0016301kinase activityIEA-
GO:0042802identical protein bindingIPI11577348 
GO:0046872metal ion bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006468protein amino acid phosphorylationIEA-
GO:0007242intracellular signaling cascadeIEA-
GO:0007242intracellular signaling cascadeTAS11913944 
GO:0007498mesoderm developmentTAS8013627 
GO:0007249I-kappaB kinase/NF-kappaB cascadeIEA-
GO:0008624induction of apoptosis by extracellular signalsTAS8688094 
GO:0019722calcium-mediated signalingTAS15046600 
GO:0018108peptidyl-tyrosine phosphorylationIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005634nucleusIDA18029348 
GO:0005634nucleusIEA-
GO:0005737cytoplasmIDA18029348 
GO:0005737cytoplasmTAS15046600 
GO:0016020membraneIEA-
GO:0031410cytoplasmic vesicleIEA-
GO:0045121membrane raftIDA15046600 

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ARHGAP17DKFZp564A1363 | FLJ37567 | FLJ43368 | MGC87805 | MST066 | MST110 | MSTP038 | MSTP066 | MSTP110 | NADRIN | RICH1 | WBP15Rho GTPase activating protein 17Reconstituted ComplexBioGRID11431473 
ARID3ABRIGHT | DRIL1 | DRIL3 | E2FBP1AT rich interactive domain 3A (BRIGHT-like)-HPRD,BioGRID15203319 
BLNKBASH | BLNK-S | LY57 | MGC111051 | SLP-65 | SLP65B-cell linker-HPRD10498607 |10556826 
BLNKBASH | BLNK-S | LY57 | MGC111051 | SLP-65 | SLP65B-cell linkerAffinity Capture-Western
in vitro
in vivo		BioGRID10498607 |12093870 
BTKAGMX1 | AT | ATK | BPK | IMD1 | MGC126261 | MGC126262 | PSCTK1 | XLABruton agammaglobulinemia tyrosine kinase-HPRD,BioGRID11527964 
CAV1CAV | MSTP085 | VIP21caveolin 1, caveolae protein, 22kDa-HPRD,BioGRID11751885 
CBLC-CBL | CBL2 | RNF55Cas-Br-M (murine) ecotropic retroviral transforming sequence-HPRD,BioGRID7629518 |10427990 
CBLBDKFZp686J10223 | DKFZp779A0729 | DKFZp779F1443 | FLJ36865 | FLJ41152 | Nbla00127 | RNF56Cas-Br-M (murine) ecotropic retroviral transforming sequence bAffinity Capture-WesternBioGRID12093870 
EWSR1EWSEwing sarcoma breakpoint region 1-HPRD,BioGRID9201297 
FASALPS1A | APO-1 | APT1 | CD95 | FAS1 | FASTM | TNFRSF6Fas (TNF receptor superfamily, member 6)-HPRD9751072 
FYNMGC45350 | SLK | SYNFYN oncogene related to SRC, FGR, YESReconstituted ComplexBioGRID8058772 
GNA12MGC104623 | MGC99644 | NNX3 | RMP | gepguanine nucleotide binding protein (G protein) alpha 12in vitro
in vivo		BioGRID9796816 
GNAQG-ALPHA-q | GAQguanine nucleotide binding protein (G protein), q polypeptide-HPRD,BioGRID9770463 
GNG2-guanine nucleotide binding protein (G protein), gamma 2-HPRD7972043 |11698416 
GTF2IBAP-135 | BAP135 | BTKAP1 | DIWS | FLJ38776 | FLJ56355 | IB291 | SPIN | TFII-I | WBS | WBSCR6general transcription factor II, i-HPRD,BioGRID9012831 |10373551 
|14623887 
HCKJTK9hemopoietic cell kinase-HPRD,BioGRID8058772 
IBTKBTKI | KIAA1417 | MGC142256 | MGC142258 | RP1-93K22.1inhibitor of Bruton agammaglobulinemia tyrosine kinase-HPRD,BioGRID11577348 
JAK1JAK1A | JAK1B | JTK3Janus kinase 1 (a protein tyrosine kinase)-HPRD,BioGRID9178903 
KHDRBS1FLJ34027 | Sam68 | p62KH domain containing, RNA binding, signal transduction associated 1-HPRD,BioGRID9201297 
LYNFLJ26625 | JTK8v-yes-1 Yamaguchi sarcoma viral related oncogene homolog-HPRD,BioGRID8058772 
PLCG2-phospholipase C, gamma 2 (phosphatidylinositol-specific)Affinity Capture-WesternBioGRID10981967 |12093870 
PRKCBMGC41878 | PKC-beta | PKCB | PRKCB1 | PRKCB2protein kinase C, betaReconstituted ComplexBioGRID12679936 
PRKD1PKC-MU | PKCM | PKD | PRKCMprotein kinase D1-HPRD,BioGRID10561498 
RPS6KB1PS6K | S6K | S6K1 | STK14A | p70(S6K)-alpha | p70-S6K | p70-alpharibosomal protein S6 kinase, 70kDa, polypeptide 1Biochemical ActivityBioGRID16640565 
RPS6KB2KLS | P70-beta | P70-beta-1 | P70-beta-2 | S6K-beta2 | S6K2 | SRK | STK14B | p70(S6K)-beta | p70S6Kbribosomal protein S6 kinase, 70kDa, polypeptide 2Biochemical ActivityBioGRID16640565 
SH2B2APSSH2B adaptor protein 2-HPRD10872802 
SH3BP5SABSH3-domain binding protein 5 (BTK-associated)-HPRD,BioGRID9571151 
SH3BP5SABSH3-domain binding protein 5 (BTK-associated)-HPRD9571151 |10339589 
VAV1VAVvav 1 guanine nucleotide exchange factor-HPRD,BioGRID9201297 
WASIMD2 | THC | WASPWiskott-Aldrich syndrome (eczema-thrombocytopenia)-HPRD,BioGRID8892607 
WASF2SCAR2 | WAVE2 | dJ393P12.2WAS protein family, member 2-HPRD10427990 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG B CELL RECEPTOR SIGNALING PATHWAY 7556All SZGR 2.0 genes in this pathway
KEGG FC EPSILON RI SIGNALING PATHWAY 7958All SZGR 2.0 genes in this pathway
KEGG PRIMARY IMMUNODEFICIENCY 3528All SZGR 2.0 genes in this pathway
BIOCARTA BCR PATHWAY 3728All SZGR 2.0 genes in this pathway
BIOCARTA FCER1 PATHWAY 4130All SZGR 2.0 genes in this pathway
BIOCARTA PTDINS PATHWAY 2316All SZGR 2.0 genes in this pathway
ST GA12 PATHWAY 2316All SZGR 2.0 genes in this pathway
SIG CHEMOTAXIS 4537All SZGR 2.0 genes in this pathway
SIG PIP3 SIGNALING IN B LYMPHOCYTES 3631All SZGR 2.0 genes in this pathway
SIG BCR SIGNALING PATHWAY 4638All SZGR 2.0 genes in this pathway
ST B CELL ANTIGEN RECEPTOR 4032All SZGR 2.0 genes in this pathway
ST FAS SIGNALING PATHWAY 6554All SZGR 2.0 genes in this pathway
ST PHOSPHOINOSITIDE 3 KINASE PATHWAY 3729All SZGR 2.0 genes in this pathway
PID FCER1 PATHWAY 6243All SZGR 2.0 genes in this pathway
PID BCR 5PATHWAY 6550All SZGR 2.0 genes in this pathway
PID FAS PATHWAY 3829All SZGR 2.0 genes in this pathway
PID PI3KCI PATHWAY 4940All SZGR 2.0 genes in this pathway
PID EPO PATHWAY 3429All SZGR 2.0 genes in this pathway
REACTOME ANTIGEN ACTIVATES B CELL RECEPTOR LEADING TO GENERATION OF SECOND MESSENGERS 2924All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY THE B CELL RECEPTOR BCR 12690All SZGR 2.0 genes in this pathway
REACTOME MYD88 MAL CASCADE INITIATED ON PLASMA MEMBRANE 8363All SZGR 2.0 genes in this pathway
REACTOME INNATE IMMUNE SYSTEM 279178All SZGR 2.0 genes in this pathway
REACTOME ACTIVATED TLR4 SIGNALLING 9369All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM 933616All SZGR 2.0 genes in this pathway
REACTOME TOLL RECEPTOR CASCADES 11884All SZGR 2.0 genes in this pathway
REACTOME ADAPTIVE IMMUNE SYSTEM 539350All SZGR 2.0 genes in this pathway
HOLLMANN APOPTOSIS VIA CD40 UP 201125All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
HOEBEKE LYMPHOID STEM CELL UP 9564All SZGR 2.0 genes in this pathway
KLEIN TARGETS OF BCR ABL1 FUSION 4534All SZGR 2.0 genes in this pathway
DAIRKEE TERT TARGETS DN 12479All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442892All SZGR 2.0 genes in this pathway
PENG RAPAMYCIN RESPONSE DN 245154All SZGR 2.0 genes in this pathway
PENG GLUTAMINE DEPRIVATION DN 337230All SZGR 2.0 genes in this pathway
LEE METASTASIS AND ALTERNATIVE SPLICING UP 7451All SZGR 2.0 genes in this pathway
FINETTI BREAST CANCER KINOME GREEN 1614All SZGR 2.0 genes in this pathway
SMID BREAST CANCER NORMAL LIKE UP 476285All SZGR 2.0 genes in this pathway
LABBE TGFB1 TARGETS UP 10264All SZGR 2.0 genes in this pathway
FIRESTEIN PROLIFERATION 175125All SZGR 2.0 genes in this pathway
VILIMAS NOTCH1 TARGETS DN 2012All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER UP 288168All SZGR 2.0 genes in this pathway
YAGI AML WITH T 8 21 TRANSLOCATION 368247All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway