STXBP5 (syntaxin binding protein 5)

2021-06-01  

Identity

HGNC
LOCATION
6q24.3
LOCUSID
ALIAS
LGL3,LLGL3,Nbla04300

Other Information

Locus ID:

NCBI: 134957
MIM: 604586
HGNC: 19665
Ensembl: ENSG00000164506

Variants:

dbSNP: 134957
ClinVar: 134957
TCGA: ENSG00000164506
COSMIC: STXBP5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164506ENST00000321680Q5T5C0
ENSG00000164506ENST00000367475H0Y332
ENSG00000164506ENST00000367480Q5T5C0
ENSG00000164506ENST00000367481Q5T5C0
ENSG00000164506ENST00000392291Q5JRH0
ENSG00000164506ENST00000546097Q3B794

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
96206951998Tomosyn: a syntaxin-1-binding protein that forms a novel complex in the neurotransmitter release process.99
211639212011Genetic variation associated with plasma von Willebrand factor levels and the risk of incident venous thrombosis.38
252440952014Syntaxin-binding protein STXBP5 inhibits endothelial exocytosis and promotes platelet secretion.30
213303752011Structural and functional analysis of tomosyn identifies domains important in exocytotic regulation.19
252440942014Platelet secretion and hemostasis require syntaxin-binding protein STXBP5.19
211569302010Effect of genetic variations in syntaxin-binding protein-5 and syntaxin-2 on von Willebrand factor concentration and cardiovascular risk.18
258328872015CLEC4M and STXBP5 gene variations contribute to von Willebrand factor level variation in von Willebrand disease.18
100664501999Three splicing variants of tomosyn and identification of their syntaxin-binding region.17
227923892012Effect of genetic variation in STXBP5 and STX2 on von Willebrand factor and bleeding phenotype in type 1 von Willebrand disease patients.14
245783792014Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.12

Citation

Dessen P

STXBP5 (syntaxin binding protein 5)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58371/stxbp5