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FLASH GENE
Symbol STXBP2 contributors: mct/npt/pgu - updated : 21-10-2009
HGNC name syntaxin binding protein 2
HGNC id 11445
Corresponding disease
HPLH5 hemophagocytic lymphohistiocytosis, familial, 5
Location 19p13.2      Physical location : 7.701.990 - 7.712.758
Synonym name Unc-18 homolog 2
Synonym symbol(s) UNC18B, UNC18-2, MUNC18-2, pp10122, Hunc18b
DNA
TYPE functioning gene
STRUCTURE 10.77 kb     19 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 - 1901 - 590 - 2008 18588921
19 - 1910 - 593 - 2008 18588921
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Lymphoid/Immunethymus   highly
Reproductivefemale systemuteruscervix highly
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticmonocyte
Lymphoid/Immunenatural killer
Lymphoid/Immuneneutrophil
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta, predominantly
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to C.elegans unc-18 gene/F27d9.1
homolog to murine Stxbp2
Homologene
FAMILY
  • syntaxin family
  • sec 1p/vacuolar sorting family
  • stxbp/unc-18/sec1 family
  • CATEGORY receptor , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,granule
    text
  • associated preferentially with primary granules but could also be found with secondary and tertiary granules
  • basic FUNCTION
  • soluble N ethylmaleimide-sensitive factor-attachment protein receptor, SNARE protein
  • may be playing a role in the regulation of secretory granule dynamics in mast cells
  • acting in a step different from SNARE complex formation and fusion
  • putatively involved in granule exocytosis
  • involved in the protein trafficking from the Golgi apparatus to the plasma membrane
  • together with syntaxin-3 regulate degranulation positively during the process of membrane fusion between secretory granules and plasma membrane, rather than during processes that regulate the number or behavior of secretory granules
  • together with STX3 regulate degranulation positively during the process of membrane fusion between secretory granules and plasma membrane, rather than during processes that regulate the number or behavior of secretory granules
  • acting as a regulator of primary granule exocytosis, while STXBP3 may preferentially regulate the fusion of secondary granules
  • involved in the regulation of vesicle transport to the plasma membrane and having a key role in lytic granule exocytosis
  • functionally coupled to the assembly of exocytic SNARE complexes and increases exocytosis by interacting with the N-peptide and closed-conformation C-terminus of STX3, thereby neutralizing the secretion-inhibitory effect of this SNARE
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport , cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • syntaxin (1a, 2, 3)
  • interacts with the target-SNARE syntaxin 3
  • syntaxin 11, a SNARE protein mutated in HPLH4, is an interaction partner of STXBP2
  • binds STX3, VAMP8 and the assembled core SNARE complex consisting of STX3, SNAP23 and VAMP8
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPLH5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS