GOSR2

GOSR2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3EG9
Identifiers
Aliases	GOSR2 , Bos1, EPM6, GS27, golgi SNAP receptor complex member 2
External IDs	OMIM: 604027; MGI: 1927204; HomoloGene: 37907; GeneCards: GOSR2; OMA:GOSR2 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q21.32 Start 46,923,075 bp [1] End 46,975,524 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 E1|11 67.43 cM Start 103,676,849 bp [2] End 103,697,898 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell left testis right testis stromal cell of endometrium epithelium of colon anterior pituitary islet of Langerhans body of pancreas C1 segment gastrocnemius muscle Top expressed in molar median eminence arcuate nucleus spermatocyte stroma of bone marrow calvaria islet of Langerhans lacrimal gland endocardial cushion decidua More reference expression data BioGPS More reference expression data
Gene ontology Molecular function SNARE binding SNAP receptor activity protein binding Cellular component integral component of membrane Golgi apparatus membrane endoplasmic reticulum-Golgi intermediate compartment membrane ER to Golgi transport vesicle membrane cytosol late endosome membrane Golgi membrane SNARE complex endoplasmic reticulum endoplasmic reticulum membrane Biological process COPII vesicle coating IRE1-mediated unfolded protein response protein transport vesicle-mediated transport Golgi to vacuole transport vesicle fusion with Golgi apparatus retrograde transport, endosome to Golgi protein targeting to vacuole endoplasmic reticulum to Golgi vesicle-mediated transport intra-Golgi vesicle-mediated transport transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9570 56494 Ensembl ENSG00000108433 ENSMUSG00000020946 UniProt O14653 O35166 RefSeq (mRNA) NM_001012511 NM_004287 NM_054022 NM_001321133 NM_001321134 NM_001330252 NM_001353114 NM_001353115 NM_001353116 NM_001363851 NM_019650 RefSeq (protein) NP_001012529 NP_001308062 NP_001308063 NP_001317181 NP_004278 NP_473363 NP_001340043 NP_001340044 NP_001340045 NP_001350780 NP_062624 NP_001349781 NP_001349782 NP_001349783 NP_001349784 NP_001349785 NP_001349786 NP_001349787 NP_001349788 NP_001349789 Location (UCSC) Chr 17: 46.92 – 46.98 Mb Chr 11: 103.68 – 103.7 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Golgi SNAP receptor complex member 2 is a protein that in humans is encoded by the GOSR2 gene. ^{[5] [6] [7]}

Function

This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. Three transcript variants encoding three different isoforms have been found for this gene. ^[7]

Mutations in the GOSR2 gene are linked with North Sea progressive myoclonus epilepsy (NS-PME), ^[8] a rare subtype of progressive myoclonus epilepsy that is prevalent in northern Europe. ^[9]

Interactions

GOSR2 has been shown to interact with USO1 ^{[10] [11]} and STX5. ^{[10] [12] [13]}

References

1. GRCh38: Ensembl release 89: ENSG00000108433 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020946 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Lowe SL, Peter F, Subramaniam VN, Wong SH, Hong W (October 1997). "A SNARE involved in protein transport through the Golgi apparatus". Nature. 389 (6653): 881–4. Bibcode:1997Natur.389..881L. doi:10.1038/39923. PMID   9349823. S2CID   4421051.
6. Bui TD, Levy ER, Subramaniam VN, Lowe SL, Hong W (April 1999). "cDNA characterization and chromosomal mapping of human golgi SNARE GS27 and GS28 to chromosome 17". Genomics. 57 (2): 285–8. doi:10.1006/geno.1998.5649. PMID   10198168.
7. "Entrez Gene: GOSR2 golgi SNAP receptor complex member 2".
8. Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, et al. (April 2013). "'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation". Brain. 136 (Pt 4): 1146–54. doi: 10.1093/brain/awt021 . PMID   23449775.
9. Lambrechts RA, Polet SS, Hernandez-Pichardo A, van Ninhuys L, Gorter JA, Grzeschik NA, et al. (December 2019). "North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia" . Neuroscience. 423: 1–11. doi:10.1016/j.neuroscience.2019.10.035. PMID   31682953. S2CID   207844811.
10. Shorter J, Beard MB, Seemann J, Dirac-Svejstrup AB, Warren G (April 2002). "Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115". The Journal of Cell Biology. 157 (1): 45–62. doi:10.1083/jcb.200112127. PMC   2173270 . PMID   11927603.
11. Allan BB, Moyer BD, Balch WE (July 2000). "Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion". Science. 289 (5478): 444–8. Bibcode:2000Sci...289..444A. doi:10.1126/science.289.5478.444. PMID   10903204.
12. Hay JC, Chao DS, Kuo CS, Scheller RH (April 1997). "Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells". Cell. 89 (1): 149–58. doi: 10.1016/S0092-8674(00)80191-9 . PMID   9094723. S2CID   8682509.
13. Hay JC, Klumperman J, Oorschot V, Steegmaier M, Kuo CS, Scheller RH (June 1998). "Localization, dynamics, and protein interactions reveal distinct roles for ER and Golgi SNAREs". The Journal of Cell Biology. 141 (7): 1489–502. doi:10.1083/jcb.141.7.1489. PMC   2133002 . PMID   9647643.

Further reading

• Hay JC, Chao DS, Kuo CS, Scheller RH (April 1997). "Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells". Cell. 89 (1): 149–58. doi: 10.1016/S0092-8674(00)80191-9 . PMID   9094723. S2CID   8682509.
• Hay JC, Klumperman J, Oorschot V, Steegmaier M, Kuo CS, Scheller RH (June 1998). "Localization, dynamics, and protein interactions reveal distinct roles for ER and Golgi SNAREs". The Journal of Cell Biology. 141 (7): 1489–502. doi:10.1083/jcb.141.7.1489. PMC   2133002 . PMID   9647643.
• Xu D, Joglekar AP, Williams AL, Hay JC (December 2000). "Subunit structure of a mammalian ER/Golgi SNARE complex". The Journal of Biological Chemistry. 275 (50): 39631–9. doi: 10.1074/jbc.M007684200 . PMID   11035026.
• Shorter J, Beard MB, Seemann J, Dirac-Svejstrup AB, Warren G (April 2002). "Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115". The Journal of Cell Biology. 157 (1): 45–62. doi:10.1083/jcb.200112127. PMC   2173270 . PMID   11927603.
• Honda A, Al-Awar OS, Hay JC, Donaldson JG (March 2005). "Targeting of Arf-1 to the early Golgi by membrin, an ER-Golgi SNARE". The Journal of Cell Biology. 168 (7): 1039–51. doi:10.1083/jcb.200409138. PMC   2171843 . PMID   15781476.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, et al. (December 2005). "Transcriptome analysis of human gastric cancer". Mammalian Genome. 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID   16341674. S2CID   69278.