GOSR2 (golgi SNAP receptor complex member 2)

2016-10-01  

Identity

HGNC
GOSR2
LOCATION
17q21.32
LOCUSID
9570
ALIAS
Bos1,EPM6,GS27
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9570
MIM: 604027
HGNC: 4431
Ensembl: ENSG00000108433

Variants:

dbSNP: 9570
ClinVar: 9570
TCGA: ENSG00000108433
COSMIC: GOSR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108433ENST00000225567O14653
ENSG00000108433ENST00000393456A0A1W2PQE0
ENSG00000108433ENST00000415811A0A1X7SBU8
ENSG00000108433ENST00000570879I3L0K1
ENSG00000108433ENST00000571048A0A1W2PRD0
ENSG00000108433ENST00000573224I3NI02
ENSG00000108433ENST00000575949I3L1K7
ENSG00000108433ENST00000576910I3L4Z6
ENSG00000108433ENST00000623037A0A1W2PRV0
ENSG00000108433ENST00000638189A0A1W2PQM3
ENSG00000108433ENST00000638216A0A1W2PRL0
ENSG00000108433ENST00000638219A0A1W2PPG5
ENSG00000108433ENST00000638374A0A1W2PQS3
ENSG00000108433ENST00000638468A0A1W2PQ38
ENSG00000108433ENST00000638579A0A1W2PPG5
ENSG00000108433ENST00000638634A0A1W2PQ77
ENSG00000108433ENST00000638697A0A1W2PRP7
ENSG00000108433ENST00000638838A0A1W2PRC2
ENSG00000108433ENST00000638892A0A1W2PRH7
ENSG00000108433ENST00000639031A0A1W2PP28
ENSG00000108433ENST00000639199A0A1W2PPW8
ENSG00000108433ENST00000639287A0A1W2PRE6
ENSG00000108433ENST00000639365A0A1W2PPP5
ENSG00000108433ENST00000639388A0A1W2PS12
ENSG00000108433ENST00000639713A0A1W2PNV3
ENSG00000108433ENST00000639985A0A1W2PR23
ENSG00000108433ENST00000640007A0A1W2PQ06
ENSG00000108433ENST00000640051O14653
ENSG00000108433ENST00000640068A0A1W2PQE0
ENSG00000108433ENST00000640138A0A1W2PQS3
ENSG00000108433ENST00000640269A0A1W2PRE6
ENSG00000108433ENST00000640358A0A1W2PPG1
ENSG00000108433ENST00000640443A0A1W2PRL0
ENSG00000108433ENST00000640495A0A1W2PQS3
ENSG00000108433ENST00000640608A0A1W2PR02
ENSG00000108433ENST00000640621O14653
ENSG00000108433ENST00000640711A0A1W2PPE0
ENSG00000108433ENST00000640723A0A1W2PQP2
ENSG00000108433ENST00000640792A0A1W2PS81
ENSG00000108433ENST00000640806A0A1W2PPJ0
ENSG00000108433ENST00000640866A0A1W2PQ12
ENSG00000108433ENST00000640871A0A1W2PQQ4

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
SNARE interactions in vesicular transportKEGGko04130
SNARE interactions in vesicular transportKEGGhsa04130
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Cargo concentration in the ERREACTOMER-HSA-5694530
COPI-mediated anterograde transportREACTOMER-HSA-6807878
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Intra-Golgi trafficREACTOMER-HSA-6811438

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
195843462009Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.93
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
215493392011A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.37
215493392011A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.37
157814762005Targeting of Arf-1 to the early Golgi by membrin, an ER-Golgi SNARE.32
234497752013'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.13
244583212014Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.13
298553402018TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.8
233873392013Segregation of the Qb-SNAREs GS27 and GS28 into Golgi vesicles regulates intra-Golgi transport.6
236759872013A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men.6

Citation

Dessen P

GOSR2 (golgi SNAP receptor complex member 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56148/gosr2