Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

ARMS2

contributors: shn/mct - updated : 05-11-2021

HGNC name	age-related maculopathy susceptibility 2
HGNC id	32685

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001099667 2 - 823 NP_001093137 12 107 placenta and ellipsoid region of the rod and cone inner segments 2021 33636181

EXPRESSION

Type	restricted

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 Reproductive female system placenta     lowly Visual eye retina     specific

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Visual rod 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,inner
	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)

basic FUNCTION	ARMS2 functions as surface complement regulator
	is likely involved in complement-mediated clearance of cellular debris

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 (AMD)

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 (
	polymorphism rs10490924 in the ARMS2 gene is highly associated with AMD and linked to an indel mutation (del443ins54), and ARMS2 protein deficiency due to the genetic risk variant might be involved in drusen formation

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS