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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001127396 19 - 1901 NP_001120868 - 590 - 2008 18588921 NM_006949 19 - 1910 NP_008880 - 593 - 2008 18588921

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Lymphoid/Immune thymus       highly Reproductive female system uterus cervix   highly Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic monocyte Lymphoid/Immune natural killer Lymphoid/Immune neutrophil

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