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FLASH GENE
Symbol GOSR2 contributors: mct/pgu - updated : 25-08-2011
HGNC name golgi SNAP receptor complex member 2
HGNC id 4431
Corresponding disease
EPM6A myoclonic epilepsy-6 with ataxia
Location 17q21      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 18.25 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)
Physical map
CRHR1 17q12-q22 corticotropin releasing hormone receptor 1 IMP5 17q21.31 intramembrane protease 5 MAPT 17q21.11 microtubule-associated protein tau DKFZP727C091 LOC284054 17q21.32 similar to C-jun-amino-terminal kinase interacting protein 1 (JNK-interacting protein 1) (JIP-1) (JNK MAP kinase scaffold protein 1) (Islet-brain-1) (IB-1) (Mitogen-activated protein kinase 8-interacting protein 1) LOC124981 17q21.32 similar to dead end homolog 1; dead end protein LOC388392 17 similar to FALZ protein LOC201173 17q21.32 similar to KIAA0563 protein LOC51326 17q21.32 ARF protein NSF 17q21-q22 N-ethylmaleimide-sensitive factor WNT3 17q21.31 wingless-type MMTV integration site family, member 3 LOC388393 17 LOC388393 WNT9B 17q21 wingless-type MMTV integration site family, member 9B GOSR2 17q21 golgi SNAP receptor complex member 2 LOC388394 17 similar to RIKEN cDNA 2410012A13 LOC388395 17 similar to Hypothetical protein KIAA0563 LOC388396 17 similar to KIAA0563 protein LOC388397 17 LOC388397 CDC27 17q21.3 cell division cycle 27 MYL4 17q21.2 myosin, light polypeptide 4, alkali; atrial, embryonic ITGB3 17q21.31 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) FLJ40342 17q21.32 hypothetical protein FLJ40342 NPEPPS 17q21.2-q21.32 aminopeptidase puromycin sensitive KPNB1 17q21.32 karyopherin (importin) beta 1 ProSAPiP2 17q21.32 ProSAPiP2 protein TBX21 17q21.3 T-box 21 OSBPL7 17q21.2 oxysterol binding protein-like 7 MRPL10 17q21.32 mitochondrial ribosomal protein L10 MGC16309 17q21.32 hypothetical gene MGC16309 Ses2 17q21.32 secernin 2 SP6 17q21.3-q22 Sp6 transcription factor LOC388398 17 LOC388398 SP2 17q21.3-q22 Sp2 transcription factor PNPO 17q21.32 pyridoxine-5'-phosphate oxidase
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 3319 - 212 - 2005 16341674
variant A
7 - 1469 - 213 - 2005 16341674
variant B
5 - 2220 - 195 - 2005 16341674
variant C
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach   highly
Endocrineneuroendocrinepituitary  highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone 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     intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,Golgi
basic FUNCTION
  • trafficking membrane protein involved in intra Golgi transport
  • transports proteins among the medial- and trans-Golgi compartments
  • 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
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EPM6A
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS