Property Summary

NCBI Gene PubMed Count 47
Grant Count 16
R01 Count 10
Funding $1,573,043.32
PubMed Score 32.14
PubTator Score 35.96

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
Rheumatoid Arthritis -1.700 0.035
psoriasis -1.200 0.000
osteosarcoma -2.185 0.000
COPD -1.100 0.001

 GO Function (1)

Gene RIF (22)

PMID Text
26451869 two novel mutations of STXBP2: c.184A>G and c.577A>C. c.184A>G (p.Asn62Asp) was located within a highly conserved region of the STXBP2 protein and predicted to be deleterious.
26320718 red blood cells express Munc18-2 and that erythroid cells from patients with FHL-5 exhibit intrinsic defects caused by STXBP2/Munc18-2 mutations.
25947952 mutations result in severe chronic active Epstein-Barr virus disease
25564401 Munc18-2(R65Q) and Munc18-2(R65W) retain the ability to interact with and stabilize STX11. However, presence of Munc18-2(R65Q/W) in patient-derived lymphocytes and forced expression in control CTLs and NK cells diminishes degranulation and cytotoxicity.
24194549 Munc18-2 binds the N-terminal peptide of Stx11 with a ~20-fold higher affinity than Stx3, suggesting a potential role in selective binding.
23687090 We report that FHL-5 neutrophils have a profound defect in granule mobilization, resulting in inadequate bacterial killing, in particular, of gram-negative Escherichia coli, but not of Staphylococcus aureus.
23487749 Double knockdown of Munc18-1 and Munc18-2 in mast cells eliminates both IgE-dependent and ionomycin-induced degranulation and causes a significant reduction in syntaxin-11 without altering expressions of the other syntaxin isoforms examined.
23382066 Mutations in STXBP2 do not only affect cytotoxic T lymphocytes but also cause changes in the intestinal and renal epithelium resulting in severe, osmotic diarrhea and renal proximal tubular dysfunction
22451424 We report the largest cohort of patients with FHL5 so far, describe an extended disease spectrum, and demonstrate for the first time a clear genotype-phenotype correlation.
22336081 Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity in familial hemophagocytic lymphohistiocytosis.
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AA Sequence

MAPSGLKAVVGEKILSGVIRSVKKDGEWKVLIMDHPSMRILSSCCKMSDILAEGITIVEDINKRREPIPS      1 - 70
LEAIYLLSPTEKSVQALIKDFQGTPTFTYKAAHIFFTDTCPEPLFSELGRSRLAKVVKTLKEIHLAFLPY     71 - 140
EAQVFSLDAPHSTYNLYCPFRAEERTRQLEVLAQQIATLCATLQEYPAIRYRKGPEDTAQLAHAVLAKLN    141 - 210
AFKADTPSLGEGPEKTRSQLLIMDRAADPVSPLLHELTFQAMAYDLLDIEQDTYRYETTGLSEAREKAVL    211 - 280
LDEDDDLWVELRHMHIADVSKKVTELLRTFCESKRLTTDKANIKDLSQILKKMPQYQKELNKYSTHLHLA    281 - 350
DDCMKHFKGSVEKLCSVEQDLAMGSDAEGEKIKDSMKLIVPVLLDAAVPAYDKIRVLLLYILLRNGVSEE    351 - 420
NLAKLIQHANVQAHSSLIRNLEQLGGTVTNPGGSGTSSRLEPRERMEPTYQLSRWTPVIKDVMEDAVEDR    421 - 490
LDRNLWPFVSDPAPTASSQAAVSARFGHWHKNKAGIEARAGPRLIVYVMGGVAMSEMRAAYEVTRATEGK    491 - 560
WEVLIGSSHILTPTRFLDDLKALDKKLEDIALP                                         561 - 593
//

Text Mined References (52)

PMID Year Title
26451869 2016 Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.
26320718 2015 Intrinsic defects in erythroid cells from familial hemophagocytic lymphohistiocytosis type 5 patients identify a role for STXBP2/Munc18-2 in erythropoiesis and phospholipid scrambling.
25947952 2015 Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25564401 2015 Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.
24194549 2013 Syntaxin binding mechanism and disease-causing mutations in Munc18-2.
23687090 2013 Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23487749 2013 Crucial role of the hydrophobic pocket region of Munc18 protein in mast cell degranulation.
23382066 2013 Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.
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