STXBP2 (syntaxin binding protein 2)

2016-10-01  

Identity

HGNC
STXBP2
LOCATION
19p13.2
LOCUSID
6813
ALIAS
FHL5,Hunc18b,MUNC18-2,UNC18-2,UNC18B,pp10122
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6813
MIM: 601717
HGNC: 11445
Ensembl: ENSG00000076944

Variants:

dbSNP: 6813
ClinVar: 6813
TCGA: ENSG00000076944
COSMIC: STXBP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000076944ENST00000221283Q15833
ENSG00000076944ENST00000414284Q15833
ENSG00000076944ENST00000441779Q15833
ENSG00000076944ENST00000593535M0QZ54
ENSG00000076944ENST00000595950M0R0D4
ENSG00000076944ENST00000597068M0R0M7
ENSG00000076944ENST00000599400M0R376
ENSG00000076944ENST00000599737M0R118
ENSG00000076944ENST00000600702M0R1A1
ENSG00000076944ENST00000602355R4GMY7
ENSG00000076944ENST00000612033A0A087WUN8

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166182763emapalumabChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
198048482009Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.108
198846602009Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.97
218810432011Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.93
224514242012Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).36
205586102010Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.34
241945492013Syntaxin binding mechanism and disease-causing mutations in Munc18-2.31
255644012015Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.26
208231282010Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.24
207981282010STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.20
233820662013Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.18

Citation

Dessen P

STXBP2 (syntaxin binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56387/stxbp2