• Gene id: 6813

Gene Summary

• Gene Symbol: STXBP2   Gene   UCSC   Ensembl
• Aliases: FHL5, Hunc18b, MUNC18-2, UNC18-2, UNC18B, pp10122
• Gene name: syntaxin binding protein 2
• Alternate names: syntaxin-binding protein 2, protein unc-18 homolog B, unc-18B,
• Gene location: 19p13.2 (7637109: 7647872)     Exons: 21     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer
• OMIM: 600509

Protein Summary

• Protein general information: Q15833  
  • Name: Syntaxin binding protein 2 (Protein unc 18 homolog 2) (Unc18 2) (Protein unc 18 homolog B) (Unc 18B)
  • Length: 593  
  • Mass: 66453
  • Tissue specificity: Placenta, lung, liver, kidney and pancreas, as well as in peripheral blood lymphocytes.
• Sequence:

  MAPSGLKAVVGEKILSGVIRSVKKDGEWKVLIMDHPSMRILSSCCKMSDILAEGITIVEDINKRREPIPSLEAIY
  LLSPTEKSVQALIKDFQGTPTFTYKAAHIFFTDTCPEPLFSELGRSRLAKVVKTLKEIHLAFLPYEAQVFSLDAP
  HSTYNLYCPFRAEERTRQLEVLAQQIATLCATLQEYPAIRYRKGPEDTAQLAHAVLAKLNAFKADTPSLGEGPEK
  TRSQLLIMDRAADPVSPLLHELTFQAMAYDLLDIEQDTYRYETTGLSEAREKAVLLDEDDDLWVELRHMHIADVS
  KKVTELLRTFCESKRLTTDKANIKDLSQILKKMPQYQKELNKYSTHLHLADDCMKHFKGSVEKLCSVEQDLAMGS
  DAEGEKIKDSMKLIVPVLLDAAVPAYDKIRVLLLYILLRNGVSEENLAKLIQHANVQAHSSLIRNLEQLGGTVTN
  PGGSGTSSRLEPRERMEPTYQLSRWTPVIKDVMEDAVEDRLDRNLWPFVSDPAPTASSQAAVSARFGHWHKNKAG
  IEARAGPRLIVYVMGGVAMSEMRAAYEVTRATEGKWEVLIGSSHILTPTRFLDDLKALDKKLEDIALP

• Structural information:
  • Interpro: IPR027482  IPR001619  IPR036045  
  • PDB: 4CCA
  • PDBsum: 4CCA
  • STRING: ENSP00000413606
• Other Databases: GeneCards:  STXBP2  Malacards:  STXBP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0017075	syntaxin-1 binding	IBA	molecular function
GO:0030141	secretory granule	IBA	cellular component
GO:0007269	neurotransmitter secretion	IBA	biological process
GO:0019905	syntaxin binding	IBA	molecular function
GO:0030348	syntaxin-3 binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0006904	vesicle docking involved in exocytosis	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006904	vesicle docking involved in exocytosis	IEA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0071346	cellular response to interferon-gamma	IEA	biological process
GO:0017075	syntaxin-1 binding	IEA	molecular function
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0042589	zymogen granule membrane	IEA	cellular component
GO:0030348	syntaxin-3 binding	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0044194	cytolytic granule	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0042581	specific granule	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070820	tertiary granule	IDA	cellular component
GO:0042582	azurophil granule	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0001909	leukocyte mediated cytotoxicity	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0043304	regulation of mast cell degranulation	ISS	biological process
GO:0043312	neutrophil degranulation	IEP	biological process
GO:0030348	syntaxin-3 binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq