InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: STXBP2

Summary

InnateDB Protein

IDBP-23139.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

STXBP2

Protein Name

syntaxin binding protein 2

Synonyms

FHL5; Hunc18b; MUNC18-2; pp10122; UNC18-2; UNC18B;

Species

Homo sapiens

Ensembl Protein

ENSP00000221283

InnateDB Gene

IDBG-23137 (STXBP2)

Protein Structure

UniProt Annotation

Function

Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N- ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells. {ECO:0000269PubMed:19804848, ECO:0000269PubMed:19884660}.

Subcellular Localization

Disease Associations

Familial hemophagocytic lymphohistiocytosis 5 (FHL5) [MIM:613101]: A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. {ECO:0000269PubMed:19804848, ECO:0000269PubMed:19884660}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Placenta, lung, liver, kidney and pancreas, as well as in peripheral blood lymphocytes.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0030348	syntaxin-3 binding

Biological Process

GO:0001909	leukocyte mediated cytotoxicity
GO:0006904	vesicle docking involved in exocytosis
GO:0015031	protein transport
GO:0016192	vesicle-mediated transport
GO:0043304	regulation of mast cell degranulation
GO:0043312	neutrophil degranulation

Cellular Component

GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0031201	SNARE complex
GO:0042581	specific granule
GO:0042582	azurophil granule
GO:0044194	cytolytic granule
GO:0070062	extracellular vesicular exosome
GO:0070820	tertiary granule