GOSR2

Protein-coding gene in the species Homo sapiens

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]
Band	17q21.32	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]
Band	11 E1\|11 67.43 cM	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000108433 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020946 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: GOSR2 golgi SNAP receptor complex member 2".
^ 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.
^ 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.
^ ^a ^b 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.
^ 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.
^ 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.