STXBP3 (syntaxin binding protein 3)

2016-10-01  

Identity

HGNC
LOCATION
1p13.3
LOCUSID
ALIAS
MUNC18-3,MUNC18C,PSP,UNC-18C
FUSION GENES

Other Information

Locus ID:

NCBI: 6814
MIM: 608339
HGNC: 11446
Ensembl: ENSG00000116266

Variants:

dbSNP: 6814
ClinVar: 6814
TCGA: ENSG00000116266
COSMIC: STXBP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116266ENST00000370008O00186

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Disinhibition of SNARE formationREACTOMER-HSA-114516
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Translocation of GLUT4 to the plasma membraneREACTOMER-HSA-1445148

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
338910112021Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.6
338910112021Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.6
292846772018Depletion of the membrane-fusion regulator Munc18c attenuates caerulein hyperstimulation-induced pancreatitis.8
292846772018Depletion of the membrane-fusion regulator Munc18c attenuates caerulein hyperstimulation-induced pancreatitis.8
282945182017Disruption of protein complexes containing protein phosphatase 2B and Munc18c reduces the secretion of von Willebrand factor from endothelial cells.2
287982392017Interaction of Munc18c and syntaxin4 facilitates invadopodium formation and extracellular matrix invasion of tumor cells.9
282945182017Disruption of protein complexes containing protein phosphatase 2B and Munc18c reduces the secretion of von Willebrand factor from endothelial cells.2
287982392017Interaction of Munc18c and syntaxin4 facilitates invadopodium formation and extracellular matrix invasion of tumor cells.9
251905152014Doc2b serves as a scaffolding platform for concurrent binding of multiple Munc18 isoforms in pancreatic islet β-cells.13
251905152014Doc2b serves as a scaffolding platform for concurrent binding of multiple Munc18 isoforms in pancreatic islet β-cells.13
237004402013Munc18c in adipose tissue is downregulated in obesity and is associated with insulin.9
237004402013Munc18c in adipose tissue is downregulated in obesity and is associated with insulin.9
223901532012Protein expression of PKCZ (Protein Kinase C Zeta), Munc18c, and Syntaxin-4 in the insulin pathway in endometria of patients with polycystic ovary syndrome (PCOS).4
223901532012Protein expression of PKCZ (Protein Kinase C Zeta), Munc18c, and Syntaxin-4 in the insulin pathway in endometria of patients with polycystic ovary syndrome (PCOS).4
214446872011Munc18c phosphorylation by the insulin receptor links cell signaling directly to SNARE exocytosis.45

Citation

Dessen P

STXBP3 (syntaxin binding protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56092/cancer-prone-explorer/js/lib/jquery-3.5.1.min.js