Property Summary

NCBI Gene PubMed Count 26
Grant Count 4
R01 Count 4
Funding $252,769.66
PubMed Score 15.76
PubTator Score 21.39

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -3.162 0.000
group 4 medulloblastoma 1.100 0.000
ovarian cancer -1.200 0.000

Synonym

Accession O14653 D3DXJ5 D3DXJ6 Q8N4B8 Q96DA5 Q9BZZ4
Symbols Bos1
EPM6
GS27

Gene

PDB

3EG9  

Gene RIF (14)

PMID Text
26760525 The SNAREs(Soluble N-ethylmaleimide-sensitive factor attachment protein receptors), that regulate both the biogenesis and secretion of multiple lysosome-related organelles(LROs).
24458321 Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia.
23675987 A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men
23449775 GOSR2 gene mutation is associated with progressive myoclonus epilepsy cases, all of whom came from countries bounding the North Sea, extending to the coastal region of Northern Norway.
23387339 Golgi vesicles, presumably with COPI, serve to inhibit intra-Golgi transport by the extraction of GS27 and GS28 from the Golgi cisternae, which blocks the formation of inter-cisternal connections
23313660 Single nucleotide polymorphisms in the GOSR2 gene are associated with essential hypertension in Japanese men.
21549339 This p.Gly144Trp mutation is equivalent to a loss of function and results in failure of GOSR2 protein to localize to the cis-Golgi.
21549339 A homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), was identified in five apparently unrelated families with a clinically distinct progressive myoclonic epilepsy syndrome.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19584346 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
More...

AA Sequence

MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRV      1 - 70
DQLKYDVQHLQTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDL     71 - 140
ILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQY    141 - 210
LT                                                                        211 - 212
//

Text Mined References (28)

PMID Year Title
26760525 2016 SNAREs in the maturation and function of LROs.
25416956 2014 A proteome-scale map of the human interactome network.
24458321 2014 Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
23675987 2013 A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men.
23449775 2013 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
23387339 2013 Segregation of the Qb-SNAREs GS27 and GS28 into Golgi vesicles regulates intra-Golgi transport.
23313660 2013 A haplotype of the GOSR2 gene is associated with essential hypertension in Japanese men.
21909115 2011 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
21549339 2011 A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
More...