Property Summary

NCBI Gene PubMed Count 25
PubMed Score 41.67
PubTator Score 23.07

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (17)

Disease log2 FC p
astrocytic glioma -2.300 2.5e-03
ependymoma -3.300 6.0e-15
oligodendroglioma -2.400 3.5e-17
glioblastoma -3.800 1.7e-08
osteosarcoma -2.041 5.7e-04
medulloblastoma -2.100 6.3e-08
atypical teratoid / rhabdoid tumor -3.800 1.1e-09
medulloblastoma, large-cell -3.500 1.8e-07
primitive neuroectodermal tumor -2.400 1.7e-03
sarcoidosis 1.200 3.6e-03
pediatric high grade glioma -3.300 5.1e-08
pilocytic astrocytoma -2.900 1.8e-08
aldosterone-producing adenoma -1.031 2.8e-02
lung carcinoma 1.100 9.1e-22
spina bifida -1.775 4.1e-02
Pick disease -1.400 3.0e-02
ovarian cancer 1.500 9.5e-04

Gene RIF (12)

PMID Text
25832887 Genetic variations in STXBP5 and CLEC4M are associated with VWF level variation in type 1, but not in type 2 von Willebrand disease.
25244095 STXBP5 inhibits endothelial exocytosis and promotes platelet secretion
25244094 STXBP5 is required for normal arterial hemostasis, due to its contributions to platelet granule cargo packaging and secretion
24578379 Identify 3 loci associated with circulating tPA levels, the PLAT region, STXBP5, and STX2. Functional studies implicate a novel role for STXBP5 and STX2 in regulating tPA release.
22792389 Genetic variation in STXBP5 is associated with bleeding phenotype in female type 1 von Willebrand Disease patients.
21330375 multiple domains outside the R-SNARE of tomosyn are critical to the efficacy of inhibition by tomosyn on exocytotic secretion
21163921 Genetic variation in STXBP5 gene is associated with venous thrombosis.
21156930 Genetic variability in STXBP5 and STX2 affects both VWF concentration and activity in young individuals with premature arterial thrombosis.
21029358 Observational study of gene-disease association. (HuGE Navigator)
20463552 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
10066450 Characterization of a related rat gene
9620695 Characterization of a related rat protein

AA Sequence

MRKFNIRKVLDGLTAGSSSASQQQQQQHPPGNREPEIQETLQSEHFQLCKTVRHGFPYQPSALAFDPVQK      1 - 70
ILAVGTQTGALRLFGRPGVECYCQHDSGAAVIQLQFLINEGALVSALADDTLHLWNLRQKRPAILHSLKF     71 - 140
CRERVTFCHLPFQSKWLYVGTERGNIHIVNVESFTLSGYVIMWNKAIELSSKSHPGPVVHISDNPMDEGK    141 - 210
LLIGFESGTVVLWDLKSKKADYRYTYDEAIHSVAWHHEGKQFICSHSDGTLTIWNVRSPAKPVQTITPHG    211 - 280
KQLKDGKKPEPCKPILKVEFKTTRSGEPFIILSGGLSYDTVGRRPCLTVMHGKSTAVLEMDYSIVDFLTL    281 - 350
CETPYPNDFQEPYAVVVLLEKDLVLIDLAQNGYPIFENPYPLSIHESPVTCCEYFADCPVDLIPALYSVG    351 - 420
ARQKRQGYSKKEWPINGGNWGLGAQSYPEIIITGHADGSVKFWDASAITLQVLYKLKTSKVFEKSRNKDD    421 - 490
RPNTDIVDEDPYAIQIISWCPESRMLCIAGVSAHVIIYRFSKQEVITEVIPMLEVRLLYEINDVETPEGE    491 - 560
QPPPLPTPVGGSNPQPIPPQSHPSTSSSSSDGLRDNVPCLKVKNSPLKQSPGYQTELVIQLVWVGGEPPQ    561 - 630
QITSLAVNSSYGLVVFGNCNGIAMVDYLQKAVLLNLGTIELYGSNDPYRREPRSPRKSRQPSGAGLCDIS    631 - 700
EGTVVPEDRCKSPTSGSSSPHNSDDEQKMNNFIEKVKTKSRKFSKMVANDIAKMSRKLSLPTDLKPDLDV    701 - 770
KDNSFSRSRSSSVTSIDKESREAISALHFCETFTRKTDSSPSPCLWVGTTLGTVLVIALNLPPGGEQRLL    771 - 840
QPVIVSPSGTILRLKGAILRMAFLDTTGCLIPPAYEPWREHNVPEEKDEKEKLKKRRPVSVSPSSSQEIS    841 - 910
ENQYAVICSEKQAKVISLPTQNCAYKQNITETSFVLRGDIVALSNSICLACFCANGHIMTFSLPSLRPLL    911 - 980
DVYYLPLTNMRIARTFCFTNNGQALYLVSPTEIQRLTYSQETCENLQEMLGELFTPVETPEAPNRGFFKG    981 - 1050
LFGGGAQSLDREELFGESSSGKASRSLAQHIPGPGGIEGVKGAASGVVGELARARLALDERGQKLGDLEE   1051 - 1120
RTAAMLSSAESFSKHAHEIMLKYKDKKWYQF                                          1121 - 1151
//

Text Mined References (31)

PMID Year Title
25832887 2015 CLEC4M and STXBP5 gene variations contribute to von Willebrand factor level variation in von Willebrand disease.
25244095 2014 Syntaxin-binding protein STXBP5 inhibits endothelial exocytosis and promotes platelet secretion.
25244094 2014 Platelet secretion and hemostasis require syntaxin-binding protein STXBP5.
24578379 2014 Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23897914 2013 A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22792389 2012 Effect of genetic variation in STXBP5 and STX2 on von Willebrand factor and bleeding phenotype in type 1 von Willebrand disease patients.
21810271 2011 Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
21330375 2011 Structural and functional analysis of tomosyn identifies domains important in exocytotic regulation.
21163921 2011 Genetic variation associated with plasma von Willebrand factor levels and the risk of incident venous thrombosis.
21156930 2010 Effect of genetic variations in syntaxin-binding protein-5 and syntaxin-2 on von Willebrand factor concentration and cardiovascular risk.
21029358 2011 Impact on venous thrombosis risk of newly discovered gene variants associated with FVIII and VWF plasma levels.
20694014 2010 Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
20463552 2010 Genome-wide examination of genetic variants associated with response to platinum-based chemotherapy in patients with small-cell lung cancer.
20231535 2010 Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18088087 2008 Phosphoproteome of resting human platelets.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15217342 2004 The synaptic vesicle cycle.
14767561 2004 Identification and characterization of human LLGL4 gene and mouse Llgl4 gene in silico.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12832401 2003 Tomosyn interacts with the t-SNAREs syntaxin4 and SNAP23 and plays a role in insulin-stimulated GLUT4 translocation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10066450 1999 Three splicing variants of tomosyn and identification of their syntaxin-binding region.
9620695 1998 Tomosyn: a syntaxin-1-binding protein that forms a novel complex in the neurotransmitter release process.
7829101 1994 Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.