GOSR2

Last updated
GOSR2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GOSR2 , Bos1, EPM6, GS27, golgi SNAP receptor complex member 2
External IDs OMIM: 604027 MGI: 1927204 HomoloGene: 37907 GeneCards: GOSR2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_019650

RefSeq (protein)
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]

Related Research Articles

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GOLGA2 Protein-coding gene in the species Homo sapiens

Golgin subfamily A member 2 is a protein that in humans is encoded by the GOLGA2 gene.

STXBP1 Protein-coding gene in the species Homo sapiens

Syntaxin-binding protein 1 is a protein that in humans is encoded by the STXBP1 gene. This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4.

USO1 Protein-coding gene in the species Homo sapiens

General vesicular transport factor p115 is a protein that in humans is encoded by the USO1 gene.

RAB1A Protein-coding gene in the species Homo sapiens

Ras-related protein Rab-1A is a protein that in humans is encoded by the RAB1A gene.

STX6 Protein-coding gene in the species Homo sapiens

Syntaxin-6 is a protein that in humans is encoded by the STX6 gene.

GRASP65 Protein-coding gene in the species Homo sapiens

Golgi reassembly-stacking protein of 65 kDa (GRASP65) also known as Golgi reassembly-stacking protein 1 (GORASP1) is a protein that in humans is encoded by the GORASP1 gene.

VAMP3 Protein-coding gene in the species Homo sapiens

Vesicle-associated membrane protein 3 is a protein that in humans is encoded by the VAMP3 gene.

STX5 Protein-coding gene in the species Homo sapiens

Syntaxin-5 is a protein that in humans is encoded by the STX5 gene.

YKT6 Protein-coding gene in the species Homo sapiens

Synaptobrevin homolog YKT6 is a protein that in humans is encoded by the YKT6 gene.

STX12

Syntaxin-12 is a protein that in humans is encoded by the STX12 gene.

GOSR1 Protein-coding gene in the species Homo sapiens

Golgi SNAP receptor complex member 1 is a protein that in humans is encoded by the GOSR1 gene.

BET1L Protein-coding gene in the species Homo sapiens

BET1-like protein is a protein that in humans is encoded by the BET1L gene.

VAMP4 Protein-coding gene in the species Homo sapiens

Vesicle-associated membrane protein 4 is a protein that in humans is encoded by the VAMP4 gene.

VPS45

Vacuolar protein sorting-associated protein 45 is a protein that in humans is encoded by the VPS45 gene.

SEC22B

Vesicle-trafficking protein SEC22b is a protein that in humans is encoded by the SEC22B gene.

BET1

BET1 homolog is a protein that in humans is encoded by the BET1 gene.

SCFD1 Protein-coding gene in the species Homo sapiens

Sec1 family domain-containing protein 1 is a protein that in humans is encoded by the SCFD1 gene.

SEC22A

Vesicle-trafficking protein SEC22a is a protein that in humans is encoded by the SEC22A gene.

STX17 Protein-coding gene in the species Homo sapiens

Syntaxin 17 is a protein that in humans is encoded by the STX17 gene. In horses a duplication in intron 6 causes progressive graying.

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. 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. 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