Property Summary

NCBI Gene PubMed Count 25
Grant Count 40
R01 Count 25
Funding $2,917,683.79
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 0.003
ependymoma -3.300 0.000
oligodendroglioma -2.400 0.000
glioblastoma -3.800 0.000
osteosarcoma -2.041 0.001
medulloblastoma -2.100 0.000
atypical teratoid / rhabdoid tumor -3.800 0.000
medulloblastoma, large-cell -3.500 0.000
primitive neuroectodermal tumor -2.400 0.002
sarcoidosis 1.200 0.004
pediatric high grade glioma -3.300 0.000
pilocytic astrocytoma -2.900 0.000
aldosterone-producing adenoma -1.031 0.028
lung carcinoma 1.100 0.000
spina bifida -1.775 0.041
Pick disease -1.400 0.030
ovarian cancer 1.500 0.001

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)
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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.
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