InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: STXBP2

Summary

InnateDB Gene

IDBG-23137.6

Last Modified

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

Gene Symbol

STXBP2

Gene Name

syntaxin binding protein 2

Synonyms

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

Species

Homo sapiens

Ensembl Gene

ENSG00000076944

Encoded Proteins

IDBP-23139

syntaxin binding protein 2

IDBP-368564

syntaxin binding protein 2

IDBP-368566

syntaxin binding protein 2

IDBP-765698

IDBP-761629

IDBP-764094

IDBP-765171

IDBP-765445

IDBP-765233

IDBP-807363

syntaxin binding protein 2

IDBP-807366

syntaxin binding protein 2

IDBP-807375

syntaxin binding protein 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 19:7636881-7647873

Strand

Forward strand

Band

p13.2

Transcripts

ENST00000221283	ENSP00000221283
ENST00000414284	ENSP00000409471
ENST00000441779	ENSP00000413606
ENST00000597467
ENST00000595861
ENST00000595950	ENSP00000471161
ENST00000593854
ENST00000599278
ENST00000597068	ENSP00000471327
ENST00000595181
ENST00000600702	ENSP00000471737
ENST00000594221
ENST00000599905
ENST00000593535	ENSP00000470313
ENST00000595800
ENST00000599400	ENSP00000473040
ENST00000599737	ENSP00000471585
ENST00000599648
ENST00000601061
ENST00000599558
ENST00000602355	ENSP00000473406
ENST00000612033	ENSP00000478797
ENST00000622853	ENSP00000480468

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:0017075	syntaxin-1 binding
GO:0030348	syntaxin-3 binding

Biological Process

GO:0001909	leukocyte mediated cytotoxicity
GO:0006887	exocytosis
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:0016324	apical 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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000004626

View Gene Order

ENSBTAG00000009178

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.515104

RefSeq

NM_001127396 NM_001272034 NM_006949

HUGO

OMIM

CCDS

CCDS12181 CCDS45948 CCDS62522

HPRD

03423

IMGT

EMBL

GenPept

RNA Seq Atlas