GOSR2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGOSR2, Bos1, EPM6, GS27, golgi SNAP receptor complex member 2
External IDsOMIM: 604027 MGI: 1927204 HomoloGene: 37907 GeneCards: GOSR2
Orthologs
SpeciesHumanMouse
Entrez

9570

56494

Ensembl

ENSG00000108433

ENSMUSG00000020946

UniProt

O14653

O35166

RefSeq (mRNA)

NM_019650

RefSeq (protein)
Location (UCSC)Chr 17: 46.92 – 46.98 MbChr 11: 103.68 – 103.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000108433 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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. 1 2 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

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