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FLASH GENE

Symbol

GOSR2

contributors: mct/pgu - updated : 16-09-2020

HGNC name	golgi SNAP receptor complex member 2
HGNC id	4431

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EPM6A myoclonic epilepsy-6 with ataxia
Location	17q21.32      Physical location : 45.000.485 - 45.018.732
Genatlas name	Golgi SNAP (soluble NSF (N-ethylmaleimide sensitive) attachment protein) receptor (SNARE) complex, member 2
Synonym symbol(s)	GOS7, Bos1, GS27, MEMBRIN

DNA

TYPE	functioning gene
STRUCTURE	52.41 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

Map	cen - D17S791 - GOSR2 - MYL4 - ITGB3 - D17S806 - D17S797 - D17S1795 - D17S809 - qter
Authors	Gene Map (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004287 6 - 3319 NP_004278 - 212 - 2017 28982678 variant A NM_054022 7 - 1469 NP_473363 - 213 - 2017 28982678 variant B NM_001012511 5 - 2220 NP_001012529 - 195 - 2017 28982678 variant C NM_001321133 7 - 1083 NP_001308062 - 257 - 2017 28982678 NM_001363851 6 - 4343 NP_001350780 - 194 - 2017 28982678 NM_001321134 5 - 3839 NP_001308063 - 147 - 2017 28982678 NM_001330252 6 - 3791 NP_001317181 - 165 - 2017 28982678 NM_001353114 6 - 3929 NP_001340043 - 211 - 2017 28982678 NM_001353115 5 - 3788 NP_001340044 - 164 - 2017 28982678 NM_001353116 6 - 1938 NP_001340045 - 165 - 2017 28982678

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive stomach       highly Endocrine neuroendocrine pituitary     highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

Qb-SNARE family of vesicle docking proteins

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic

basic FUNCTION	trafficking membrane protein involved in intra Golgi transport
	transports proteins among the medial- and trans-Golgi compartments
	Golgi vesicle transport gene
	essential protein mediating ER-to-Golgi membrane fusion

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	recruits ARF1 to the early Golgi and reveal distinct kinetic cycles for ARF1 at early and late Golgi determined by different sets of ARF regulators and effectors
	TRAPPC11 and another membrane trafficking protein, GOSR2, implicated in DAG1 hypoglycosylation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EPM6A

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS