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FLASH GENE
Symbol ARMS2 contributors: shn/npt - updated : 20-04-2012
HGNC name age-related maculopathy susceptibility 2
HGNC id 32685
Corresponding disease
ARMD8 macular degeneration, age-related, 8
Location 10q26.13      Physical location : 124.214.178 - 124.216.867
Synonym name hypothetical protein LOC387715
Synonym symbol(s) LOC387715, ARMD8
DNA
TYPE functioning gene
STRUCTURE 2.69 kb     2 Exon(s)
MAPPING cloned Y linked N status provisional
Map cen - D10S1679 - D10S1483 - ARMS2 - D10S587 - D10S1213 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 823 12 107 placenta and ellipsoid region of the rod and cone inner segments Fritsche et al, 2008
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemplacenta  lowly
Visualeyeretina  specific
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to ARMS2, Pan troglodytes
Homologene
FAMILY
CATEGORY unknown/unspecified
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria
intracellular,cytoplasm,cytosolic
intracellular,cytoplasm,cytoskeleton
text ARMS2 is mainly distributed in the cytosol and is more likely to be associated with the cytoskeleton in COS7 cells, not in the mitochondrial outer membrane as previously reported (Wang et al, 2009)
CELLULAR PROCESS
PHYSIOLOGICAL PROCESS
PATHWAY
metabolism
signaling
a component
INTERACTION
DNA
RNA
small molecule
protein
cell & other
REGULATION
ASSOCIATED DISORDERS
corresponding disease(s) ARMD8
Susceptibility to age-related macular degeneration
Variant & Polymorphism SNP , insertion/deletion
  • altered function through A69S substitution enhances the susceptibility to aging-associated degeneration of macular photoreceptors
  • a deletion-insertion polymorphism is strongly associated with AMD, directly affecting the transcript by removing the polyadenylation signal and inserting a 54-bp element known to mediate rapid mRNA turnover
  • rs10490924 was shown to be associated with polypoidal choroidal neovascularization (
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS