GOSR2

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.

Mutations in the GOSR2 gene are linked with North Sea progressive myoclonus epilepsy (NS-PME),{{cite journal | vauthors = Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF | display-authors = 6 | title = 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation | journal = Brain | volume = 136 | issue = Pt 4 | pages = 1146–54 | date = April 2013 | pmid = 23449775 | doi = 10.1093/brain/awt021 | doi-access = free }} a rare subtype of progressive myoclonus epilepsy that is prevalent in northern Europe.{{cite journal | vauthors = Lambrechts RA, Polet SS, Hernandez-Pichardo A, van Ninhuys L, Gorter JA, Grzeschik NA, de Koning-Tijssen MA, de Koning TJ, Sibon OC | display-authors = 6 | title = North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia | journal = Neuroscience | volume = 423 | pages = 1–11 | date = December 2019 | pmid = 31682953 | doi = 10.1016/j.neuroscience.2019.10.035 | s2cid = 207844811 | url = https://research.rug.nl/en/publications/9ead118c-2c01-40a7-bdc2-0958c6ea2fce }}

GOSR2 has been shown to interact with USO1{{cite journal | vauthors = Shorter J, Beard MB, Seemann J, Dirac-Svejstrup AB, Warren G | title = Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115 | journal = The Journal of Cell Biology | volume = 157 | issue = 1 | pages = 45–62 | date = April 2002 | pmid = 11927603 | pmc = 2173270 | doi = 10.1083/jcb.200112127 }}{{cite journal | vauthors = Allan BB, Moyer BD, Balch WE | title = Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion | journal = Science | volume = 289 | issue = 5478 | pages = 444–8 | date = July 2000 | pmid = 10903204 | doi = 10.1126/science.289.5478.444 | bibcode = 2000Sci...289..444A }} and STX5.{{cite journal | vauthors = Hay JC, Chao DS, Kuo CS, Scheller RH | title = Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells | journal = Cell | volume = 89 | issue = 1 | pages = 149–58 | date = April 1997 | pmid = 9094723 | doi = 10.1016/S0092-8674(00)80191-9 | s2cid = 8682509 | doi-access = free }}{{cite journal | vauthors = Hay JC, Klumperman J, Oorschot V, Steegmaier M, Kuo CS, Scheller RH | title = Localization, dynamics, and protein interactions reveal distinct roles for ER and Golgi SNAREs | journal = The Journal of Cell Biology | volume = 141 | issue = 7 | pages = 1489–502 | date = June 1998 | pmid = 9647643 | pmc = 2133002 | doi = 10.1083/jcb.141.7.1489 }}

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• {{cite journal | vauthors = Hay JC, Chao DS, Kuo CS, Scheller RH | title = Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells | journal = Cell | volume = 89 | issue = 1 | pages = 149–58 | date = April 1997 | pmid = 9094723 | doi = 10.1016/S0092-8674(00)80191-9 | s2cid = 8682509 | doi-access = free }}
• {{cite journal | vauthors = Hay JC, Klumperman J, Oorschot V, Steegmaier M, Kuo CS, Scheller RH | title = Localization, dynamics, and protein interactions reveal distinct roles for ER and Golgi SNAREs | journal = The Journal of Cell Biology | volume = 141 | issue = 7 | pages = 1489–502 | date = June 1998 | pmid = 9647643 | pmc = 2133002 | doi = 10.1083/jcb.141.7.1489 }}
• {{cite journal | vauthors = Xu D, Joglekar AP, Williams AL, Hay JC | title = Subunit structure of a mammalian ER/Golgi SNARE complex | journal = The Journal of Biological Chemistry | volume = 275 | issue = 50 | pages = 39631–9 | date = December 2000 | pmid = 11035026 | doi = 10.1074/jbc.M007684200 | doi-access = free }}
• {{cite journal | vauthors = Shorter J, Beard MB, Seemann J, Dirac-Svejstrup AB, Warren G | title = Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115 | journal = The Journal of Cell Biology | volume = 157 | issue = 1 | pages = 45–62 | date = April 2002 | pmid = 11927603 | pmc = 2173270 | doi = 10.1083/jcb.200112127 }}
• {{cite journal | vauthors = Honda A, Al-Awar OS, Hay JC, Donaldson JG | title = Targeting of Arf-1 to the early Golgi by membrin, an ER-Golgi SNARE | journal = The Journal of Cell Biology | volume = 168 | issue = 7 | pages = 1039–51 | date = March 2005 | pmid = 15781476 | pmc = 2171843 | doi = 10.1083/jcb.200409138 }}
• {{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | display-authors = 6 | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = October 2005 | pmid = 16189514 | doi = 10.1038/nature04209 | bibcode = 2005Natur.437.1173R | s2cid = 4427026 }}
• {{cite journal | vauthors = Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS | display-authors = 6 | title = Transcriptome analysis of human gastric cancer | journal = Mammalian Genome | volume = 16 | issue = 12 | pages = 942–54 | date = December 2005 | pmid = 16341674 | doi = 10.1007/s00335-005-0075-2 | s2cid = 69278 }}

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