GOSR2

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

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
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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]