ARMS2:Age-related maculopathy susceptibility protein 2

Gene Name
Age-related maculopathy susceptibility protein 2
Protein ID
P0C7Q2
Chromosome ID
10
HPP Status
2
Protein Name
Age-related maculopathy susceptibility protein 2
Synonyms

LOC387715

age-related maculopathy susceptibility 2

ARMD8

age-related maculopathy susceptibility protein 2


[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMS2 ]
Chromosomal Position
10q26.13 | Start:122454653 End:122454653
Sequence
P0C7Q2.fasta
Description

Entrez Gene Summary for ARMS2
This gene encodes a protein that is thought to play a role in diseases in the elderly. Mutations in this gene have been associated with age-related macular degeneration. (provided by RefSeq, Oct 2008)

[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMS2 ]
External IDs
Hgnc ID: 32685 EntrezGene ID: 387715 Ensembl ID: ENSG00000254636
[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARMS2 ]
Reference Source
http://www.nextprot.org

Gene Reference Into Function (GeneRIF)


PubMed IDGeneRIF TextLast Update
16174643Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.2010-01-21
16642439Our results strongly implicate a coding change (Ala69Ser) in the LOC387715 gene as the second major identified AMD-susceptibility allele, confirming earlier suggestions. This variant's effect on AMD is statistically independent of CFH .2010-01-21
16954704Results further support the notion that CFH (complement factor H) and LOC387715 genes are the major risk factors for ARMD.2010-01-21
17000705study provides additional support for the CFH and LOC387715 genes in age-related maculopathy (ARM) susceptibility via the evaluation of cohorts that had different ascertainment schemes regarding ARM status and through the meta-analyses2010-01-21
17194541A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population.2010-01-21
17285240findings suggest that the combined effect of variants in the CFH and LOC 387715 genes may contribute to the age-related macular degeneration phenotype in this family2010-01-21
17325155AMD (age-related macular degeneration) genetic risk marker harbored within LOC387715, the nested case-control data from the population-based BMES samples showed lower estimates than from the clinic-based samples.2010-01-21
17325155Observational study of gene-disease association. (HuGE Navigator)2008-03-13
17347568Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)2008-03-13
17347568The number of risk alleles at the LOC387715 SNP was associated with advanced Age-related macular degeneration2010-01-21
17352366Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)2008-03-13
17426452Observational study of gene-disease association. (HuGE Navigator)2008-03-13
17456821Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)2008-03-13
17675241Combined effects for the LOC387715 genotypes with 3 inflammatory markers and PAI-1 on the risk of early or late age-related macular degeneration(AMD), and with current smoking on the risk of late AMD.2010-01-21
17692272The LOC387715/HTRA1 variants are associated with polypoidal choroidal vasculopathy (PCV) and wet age-related macular degeneration (AMD) in the Japanese population.2010-01-21
17846368Both ARMS2 polymorphism and complement factor H polymorphism are independently associated with progression of age-related macular degeneration.2010-01-21
17884985Observational study of gene-disease association. (HuGE Navigator)2008-03-13
17884985SNP rs10490924 represents a major susceptibility variant for age-related macular degeneration. A likely biological mechanism is that the A69S change in the LOC387715/ARMS2 protein affects its presumptive function in mitochondria.2010-01-21
18054635Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)2008-03-13
18054635The Age-related macular degeneration associated complement factor H Y402H and LOC387715 A69S variants were associated with differences in choroidal neovascular lesion size in this study.2010-01-21
18061132Observational study of gene-disease association. (HuGE Navigator)2008-03-13
18079691Although a role for PLEKHA1 could not be totally excluded, there was a four times higher age-related macular degeneration risk was associated with haplotype "A-T-A" involving "PLEKHA1-LOC387715-HTRA1" risk alleles.2010-01-21
18079691Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2008-03-13
18161619Observational study of gene-disease association. (HuGE Navigator)2008-03-13
18162041CFH and ARMS2 haplotypes and smoking exerted large effects on AMD risk. CFH haplotypes conferred ORs from 1 to 4.17. Homozygotes for ARMS2 were at very high risk for AMD. Risk of wet AMD rose to 15.5% in 1/10 of the population with highest predicted risk.2009-12-22
18162041Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)2008-03-13
18162041Polymorphisms in the complement factor H gene, LOC387715, and the HTRA1 promoter are strongly associated with age-related macular degeneration.2010-01-21
18164066Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)2008-03-13
18248681Observational study of genotype prevalence. (HuGE Navigator)2008-04-03
18292785Observational study of gene-disease association. (HuGE Navigator)2008-04-03
18325906Observational study of gene-disease association. (HuGE Navigator)2008-04-03
18400199Observational study of gene-disease association. (HuGE Navigator)2008-04-23
18400199The LOC387715 polymorphism is associated with polypoidal choroidal vasculopathy (PCV)and clinical severity in the subgroups of PCV in the Japanese population.2010-01-21
18423869Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)2008-05-11
18423869The findings of this study indicate that an individual's response to age-related eye disease supplements may be related to complement factor H genotype.2010-01-21
18436811Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2008-05-11
18436811The present data provided an independent validation of the association of LOC387715 and HTRA1 SNPs, along with their risk estimates among Indian patients with AMD.2010-01-21
18452766our results showed that in Spanish patients with AMD the associations of both polymorphisms are not equal: Y402H is associated with early and wet AMD, whereas A69S is associated only with wet AMD.2010-01-21
18461138Observational study of gene-disease association. (HuGE Navigator)2008-05-21
18493315Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2008-06-04
18511946Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.2010-01-21
18511946a deletion-insertion polymorphism in ARMS2 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.2008-06-20
18515590Observational study of gene-disease association. (HuGE Navigator)2008-06-11
18544707Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)2008-06-29
18569809Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)2008-07-02
18682806Both the HTRA1 and LOC387715/ARMS2 single nucleotide polymorphysms appear to contribute equally to disease risk (both geographic atrophy and choroidal neovascularization) with no evidence of interaction with CFH.2010-01-21
18682806Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2008-08-20
18682812The purpose of this study was to investigate the association of reported common single-nucleotide polymorphisms (SNPs) in CFH, LOC387715, and HTRA1 with exudative age-related macular degeneration in a northern Chinese population.2010-01-21
18688167Observational study of gene-disease association. (HuGE Navigator)2008-08-20
18688167The LOC387715/ARMS2 gene is expressed in the human brain, and it may concur to the individual risk for Alzheimer's disease2010-01-21
18762075We did not find a positive association in high myopia. Based on these results, neither the Y402H nor the A69S single nucleotide polymorphisms seem to be involved in the choroid neovascularization process in high myopia patients.2010-01-21
18855541ARMS2 genotype is reported for age-related macular degeneration.2010-01-21
18936151Observational study of gene-disease association. (HuGE Navigator)2008-11-02
19001225Observational study of gene-disease association. (HuGE Navigator)2008-11-26
19048105A tentative gene-gene interaction between the two major age-related macular degeneration-associated loci, LOC387715 and complement factor H, was found in this study.2010-01-21
19048105Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2009-01-11
19065273Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)2009-01-11
19065273The rs10490924 Single nucleotide polymorphisms (SNP) in LOC387715/ARMS2 and the rs11200638 SNP in HTRA1 are strongly associated with neovascular age-related macular degeneration in this Israeli population.2010-01-21
19117936Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)2010-04-07
19168221Observational study and meta-analysis of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)2009-02-11
19169232Observational study of gene-disease association. (HuGE Navigator)2009-02-11
19197355Observational study of gene-disease association and genetic testing. (HuGE Navigator)2009-03-25
19202148Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2009-03-25
19255159ARMS2 was mainly distributed in the cytosol, not in the mitochondrial outer membrane as previously reported2010-01-21
19255159Observational study of gene-disease association. (HuGE Navigator)2009-03-25
19259132Data show that SNP rs10490924 on chromosome 10 in exon 1 of the ARMS2 gene has highly significant association with an odds ratio of 3.2 for the risk allele with AMD cases.2010-01-21
19259132Observational study of gene-disease association. (HuGE Navigator)2009-03-25
19268887Observational study of gene-disease association. (HuGE Navigator)2009-03-25
19491722Both HTRA1 SNPs are significantly associated with exudative age-related macular degeneration(AMD) in Chinese cohort and seem to contribute equally to disease status.2010-01-21
19491722Observational study of gene-disease association. (HuGE Navigator)2009-06-24
19568762The replication of the reported associations of CFH T1277C polymorphism with age-related macular degeneration (AMD) suggest that the 1277C allele could serve as a high-risk genetic marker for the disease.2010-01-21
19661236Observational study of gene-disease association. (HuGE Navigator)2009-09-16
19680273Observational study of gene-disease association. (HuGE Navigator)2009-09-16
19680273three AMD-associated SNPs (rs10490924 (A69S) of ARMS2/LOC387715, rs11200638 of HTRA1, and rs1061170 (Y402H) of CFH)do not contribute significantly to the development of choroidal neovascularization in highly myopic eyes of the elderly Japanese.2011-06-18
19796758Several polymorphisms examined in the LOC387715/ARMS2/HTRA1 locus, but none in the CFH region, correlated with specific phenotypic attributes of AMD.2010-01-21
19797206The findings indicate that age-related maculopathy (AMD) progression is differentially affected by genotypic variants.2010-02-22
19822855Observational study of gene-disease association. (HuGE Navigator)2009-12-02
19822855To our knowledge, this is the first confirmation of the association of del443ins54 in Italian patients with age-related macular degeneration, and we also confirmed the association of Tyr402His with CFH.2010-01-21
19823576Observational study of gene-disease association. (HuGE Navigator)2009-12-02
19823576variants at CFH, C3, and ARMS2 confer significant risks for geographic atrophy due to age-related macular degeneration2010-03-15
19845562Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2009-12-02
19845562The CFH, LOC387715 and HTRA1 polymorphisms are strongly associated with the development of age-related macular degeneration in the Hungarian population2011-06-18
19892838Observational study and meta-analysis of gene-disease association. (HuGE Navigator)2009-12-02
19898184Observational study of gene-disease association. (HuGE Navigator)2009-12-02
19898184The LOC387715 A69S genotype is not associated with lesion composition or size on indocyanine green angiography but with lesion size on fluorescein angiography in patients with subfoveal polypoidal choroidal vasculopathy.2010-01-21
19933179Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)2010-01-20
19933179These findings provide the first evidence suggesting that ARMS2 interacts with hormone replacement therapy to modulate age-related macular degeneration (AMD) risk and are consistent with previous reports.2010-05-03
19933195Observational study of gene-disease association. (HuGE Navigator)2010-01-20
19933195The results replicate the previously reported association between the high-risk alleles and AMD (age-related maculopathy) and confirm, an association with AMD and the indel (del443ins54) polymorphism in a Caucasian population.2010-05-03
19948975Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)2010-04-07
20007824Observational study of gene-disease association. (HuGE Navigator)2010-01-20
20022638Observational study of gene-disease association. (HuGE Navigator)2010-01-20
20042647Observational study of gene-disease association. (HuGE Navigator)2010-01-20
20042647This study demonstrates an association between the at-risk allele of the ARMS2/LOC387715 locus and classic CNV, fibrovascular lesions, and poor visual acuity.2010-05-31
20140183These data implicate increased HTRA1 expression in the pathogenesis of age-related macular degeneration.2010-05-10
20157352Observational study of gene-disease association. (HuGE Navigator)2010-04-07
20157618Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2010-04-07
20238042Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)2010-04-07
20346514High-sensitivity CRP and polymorphisms in the CFH and ARMS2/HTRA1 genes are independently associated with risk of age-related macular degeneration (AMD). Higher CRP level tends to confer a higher risk of AMD within most genotype groups.2010-08-30
20346514Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)2010-04-07
20378180Observational study of gene-disease association. (HuGE Navigator)2010-06-30
20378180The polypoidal choroidal vasculopathy (PCV) phenotype in Caucasian patients is associated with the major alleles/genotypes in the age-related macular degeneration (AMD)-associated loci, suggesting that PCV and AMD are genetically similar.2010-08-30
20381870Observational study of gene-disease association. (HuGE Navigator)2010-06-30
20385819Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)2010-06-30
20413980Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)2010-06-30
20456446Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)2010-06-30
20456446study demonstrated the significant association of the 10q26 SNPs (HTRA1 and LOC387715) in an age-related macular degeneration cohort from Korea and was consistent with previous studies from other populations2011-02-26
20574013CFH Y402H is associated with age-related macular degeneration (AMD), typical (t)AMD, polypoidal choroidal vasculopathy (PCV), whereas I62V is associated with all three subtypes.2010-12-11
20574013Observational study of gene-disease association. (HuGE Navigator)2010-09-15
20664794ARMS2 and HTRA1 mRNA levels did not show a significant difference in expression among the control (young and elderly) and age-related macular degeneration retinas.2010-11-13
20664794Observational study of gene-disease association. (HuGE Navigator)2010-09-15
20664795Observational study of gene-disease association. (HuGE Navigator)2010-09-15
20671585Observational study of gene-disease association. (HuGE Navigator)2010-09-15
20671585There is a pharmacogenetic association between the LOC387715 A69S variant and the long-term results after photodynamic therapy in eyes with polypoidal choroidal vasculopathy (PCV).2011-02-26
20688737Complement factor H Y402H and LOC387715 A69S are both significantly associated with polypoidal choroidal vasculopathy (PCV). Cigarette smoking is an environmental risk factor for PCV.2011-01-15
20688737Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)2010-09-15
20801516Observational study of genetic testing. (HuGE Navigator)2010-12-05
20861866Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)2010-12-05
20878164While ARMS2 seems to primarily influence the progression to exudative AMD, CFH seems equally related to the development of the exudative and atrophic forms of late AMD.2011-06-04
20881291Observational study of gene-disease association. (HuGE Navigator)2010-12-05
20881291This is the first study to relate age-related maculopathy (ARM) risk genotypes with mesopic visual function in clinically normal persons.2011-04-02
20888482Observational study of gene-disease association. (HuGE Navigator)2010-12-05
21031019Both HTRA1 rs11200638 G-->A polymorphism and LOC387715/ARMS2 rs10490924 G-->T polymorphism play important roles in the pathogenesis of age-related macular degeneration.2011-02-26
21031019Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator)2010-12-05
21106043Our findings show that CFH and ARMS2 genes seem to be the principal risk loci contributing independently to age-related macular degeneration in our cohort.2011-04-09
21122828Genetic variation at the ARMS2/HTRA1 locus confers a differential risk for choroid neovascularization vs geographic atrophy in a well-powered sample.2011-02-26
21191724The association pattern and haplotype estimation in the ARMS2/HTRA1 region of Japanese patients with polypoidal choroidal vasculopathy were very similar to those of Japanese patients with typical neovascular age-related macular degeneration.2011-02-26
21203342An age-dependent elevation of serum hs-CRP levels may be accelerated in normal subjects with one or two risk alleles in the ARMS2/HTRA1 locus compared to those with homozygous wild-type alleles.2011-02-26
21236409These findings suggest that there is a significant association between the ARMS2 gene and LOXL1 gene in exudative age-related macular degeneration.2011-04-09
21252205pathogenic effects due to ARMS2 protein deficiency are unlikely to account for AMD pathology.2011-05-21
21282580the association with the known genetic susceptibility loci CFH, HTRA1, and AMRS2 were confirmed, and a risk-conferring polymorphism in one new locus, LRP5, was identified.2011-09-10
21397333ARMS2 A69S variants were significantly associated with hemorrhagic or subpigment epithelium lesions of polypoidal choroidal vasculopathy, and with earlier onset and bilateral involvement.2011-09-10
21541271ARMS2 variants are likely associated with the phenotype and the effects of photodynamic therapy in typical neovascular age-related macular degeneration (tAMD) and polypoidal choroidal vasculopathy (PCV).2011-09-10
21784201Our results suggest that rs1048661 in LOXL1 is not implicated in the development of AMD in the Italian population in spite of a very good statistical power to replicate the reported strong associations.2011-09-17
21790300showing that Y402H and LOC387715 are associated with age-related macular degeneration in Turkish population2012-04-21
21816153This study did not detect an association between individual age-related macular degeneration risk genotypes and the putatively protective macular pigments, or serum concentrations of its constituent carotenoids2012-02-04
21825189The AMD-associated CFH 402H risk variant is associated with the absence of RMD (reticular macular disease) but enhanced risk for RMD is conferred by the ARMS2 69S AMD risk allele.2011-10-01
21855673Our results of a negative association between variants of the LOXL1 gene and exudative AMD suggest that the involvement of rs1048661 in the LOXL1 gene as a risk allele for exudative AMD might be small if present.2011-10-08
21896867The rs800292 variant of the CFH gene is a potential marker for typical choroid neovascularization (CNV). The rs10490924 variant of the ARMS2 gene was shown to be associated with polypoidal CNV.2011-12-03
21959923The ARMS2 (rs10490924)/HTRA1 (rs11200638) variants are significantly associated with the risk of polypoidal choroidal vasculopathy (PCV) in a Korean population.2012-05-12
22035603Our investigation of the gene-environment interaction involved in age-related macular degeneration revealed a relationship between a plasma biomarker of oxidative stress, CySS, and CFH genotype.2012-04-21
22065928There were significant differences between the controls and the age-related macular degeneration (AMD) patients in genotype distributions. This was true for all AMD subtype analyses of both rs800292 (complement factor H) and rs10490924 (ARMS2).2012-03-03
22133792The current study found evidence showing that in age-related macular degeneration risk alleles in CFH and ARMS2 are independently associated with complement activation.2012-03-24
22138417The novel ARMS2 splice variant is the major transcript isoform in retina, which is expressed in a higher level in choroid/RPE than in retina.2012-03-10
22219653ARMS2 A69S variant confers a significantly higher risk of neovascular age-related macular degeneration than polypoidal choroidal vasculopathy.2012-04-28
22232482genetic tests that naively incorporate ARMS2 A69S without considering ancestry will consistently give incorrect results to non-Hispanic black individuals.2012-02-25
22293892etiologic role in ARMD of A69S ARMS2 and Y402H CFH gene variants were confirmed in a Polish population for the first time. R38X variant of ARMS2 seems to be protective from wet ARMD2012-06-02
22481475The ARMS2 A69S substitution may serve as a marker for bilateral advanced AMD.2012-12-08
22487577ARMS2/HTRA1 risk genotype may play a role in determining neovascular subphenotype, whereas genetics/demographics, smoking, and systemic health factors contribute to the development of advanced AMD in the presence of early AMD.2013-01-26
22491416There is a strong and consistent association of the ARMS2/HTRA1 locus with both exudative AMD and PCV, suggesting the two disorders share, at least partially, similar molecular mechanisms.2012-08-18
22509112LOC387715 (ARMS2) rs10490924 was the only variant showing a significant difference between polypoidal choroidal vasculopathy and wet age-related macular degeneration. (Review)2012-07-14
22552255Our findings indicate that CFH (rs1061170) polymorphism impacts significantly on retinal function in early AMD patients.2012-10-27
22705344ARMS2/HTRA1 locus confers increased risk for both advanced age-related macular degeneration subtypes, but imparts greater risk for choroid neovascularization than for geographic atrophy.2012-11-24
22809783ARMS2 A69S genotype is associated with second-eye involvement of exudative age-related macular degeneration and with the period between first- and second-eye involvements.2012-11-17
22840423A cumulative effect of high-risk alleles in CFH, ARMS2, and VEGFA seems to be associated with a younger age of onset in combination with poor response rates to ranibizumab treatment.2013-01-26
22893087TT genotype was associated with very high risk for all types of age-related macular degeneration (ARM), with increasing odds ratios according to the severity of ARM2012-11-03
22977134The rs754203 C allele in the CYP46A1 gene may confer a higher risk for exudative age-related macular degeneration in patients who carry no risk alleles in the CFH and LOC387715 genes.2013-01-26
23060141Two variants in ARMS2/HTRA1 were associated with increased risk of early AMD, and for one of these, the increased risk was also evident for late AMD.2013-01-26
23098369A strong association was demonstrated between all stages of AMD and genetic variation in ARMS2, and a significant gene-environment interaction with cigarette smoking was confirmed.2013-04-13
23111182The prevalence of reticular pseudodrusen was low in PCV cases. About 50% of patients with reticular pseudodrusen had bilateral late AMD. The connection of ARMS2 risk allele and reticular pseudodrusen was confirmed in a Japanese population.2013-03-16
23112567CFH, ARMS2, and CFB AMD-risk alleles are consistently associated with the disease, even in ethnic groups with a complex admixture of ancestral populations such as Mexican mestizos.2013-02-02
23289807Korean individuals with the LOC387715/ARMS2 rs10490924, and to a lesser extent, CFH rs800292 variants might be at a greater risk for the development of exudative age-related macular degeneration (AMD)2014-03-15
23289808There may be significantly different associations in the genetic variants of ARMS2 between two angiographic phenotypes of polypoidal choroidal vasculopathy (PCV).2014-03-15
23296223ARMS2 does not seem to be associated either with retinopathy or coronary artery disease2013-12-28
23315805The ARMS2 rs10490924 polymorphism plays an important role in polypoidal choroidal vasculopathy susceptibility. [Meta-analysis]2013-10-19
23326481There is a strong and consistent association of the ARMS2/HTRA1 locus with both neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.2013-07-06
23337555Although specific alleles for CFH, ARMS2, HTRA1, and C3 may predict the development of AMD, they did not predict response to anti-vascular endothelial growth factor therapy.2013-08-03
23362846Our data demonstrates significant association between AMD and rs1061170 on CFH, rs10490924 on ARMS2 and rs11200638 on HTRA1 in Egyptian patients. These findings are in agreement with previous findings in Caucasians.2014-05-17
23414945Haplotypes which combine "risk genotypes" of our analyzed polymorphisms are more frequent in patients with AMD than in the control group, and they seem to increase the risk of suffering the disease in our population2014-04-26
23494043These population-based data provide estimates of the long-term risk of the incidence and progression of AMD and its lesions by age and genetic risk alleles for CFH and ARMS2.2013-05-11
23534868Our results show that genotypes of ARMS2 (rs10490923), HTRA1 (rs112000638) and CFH (rs1410996) polymorphisms are related to an increased risk of suffering AMD in Spanish patients.2014-11-08
23572227Letter: ARMS2 A69S variant is most likely to influence risk of age-related macular degeneration.2013-08-31
23582991The HTRA1 promoter SNP (rs11200638) and A69S at LOC387715/ARMS2 were associated with a poorer visual outcome for ranibizumab or bevacizumab treatment in neovascular AMD.2013-11-16
23592919The association of the del443ins54 of ARMS2 in two ethnically different populations from India and Australia, was investigated.2013-09-28
23687431The association of ARMS2/HTRA1 and CFH single nucleotide polymorphisms in early age-related maculopathy was not detected in this cohort.2013-09-28
23697955the ARMS2 A69S variant is associated with an increased risk of polypoidal choroidal vasculopathy in the Asian population. Patients with the A69S variant may have a somewhat higher risk of developing PCV compared with controls.2013-11-23
23867343CFH and ARMS2 polymorphisms were strongly associated with AMD in this Brazilian cohort.2014-03-22
23942973There was no significant difference in two ARMS2 transcript splice isoforms among retina-RPE-choroid samples carrying different genotypes at variants R38X and the indel in age related macualr degeneration.2013-11-02
23959158our data indicate that the change in ARMS2 may affect C3, C5, IL-6, IL-8, and TNF-alpha levels, and this may be one of the mechanisms of AMD development.2014-05-03
23972322Patients with no CFH risk alleles and with 1 or 2 ARMS2 risk alleles derived maximum benefit from zinc-only supplementation. Patients with one or two CFH risk alleles and no ARMS2 risk alleles derived maximum benefit from antioxidant-only supplementation2014-01-11
24013816This study provides evidence of the joint contribution of genetic variants in PLEKHA1/ARMS2/HTRA1 to age-related macular degeneration risk.2014-06-14
24217333These data suggest that polymorphisms of the ARMS2 do not modify the progression of the central field of vision in RP patients.2014-08-09
24240564study revealed significant relationships between the plasma malondialdehyde level and ARMS2 variants and phenotypes in polypoidal choroidal vasculopathy and neovascular age-related macular degeneration2015-02-28
24362810Exudative age-related macular degeneration is associated with CFH Y402H and ARMS2 A69S polymorphisms, smoking and with nutritional factors; a decreased risk with dietary omega-3 fatty acids and fruits.2014-12-06
24372405These results suggest that there is a contribution of the rs10490924 SNP of the LOC387715/ARMS2 gene to AMD susceptibility in this sample of the Brazilian population.2016-04-02
24397185The risk variants of ARMS2 A69S were associated with hemorrhagic and sub-pigment epithelial lesions and with bilaterality. Genotyping of ARMS2 A69S is useful in understanding clinical features in PCV.2014-02-08
24453474ARMS2 and C3 are major contributors to advanced age-related macular degeneration in Mexican patients, while the contributions of CFH, C2, and CFB are minor to those of other populations.2014-10-04
24557084we have assessed the relationship between GA and previously identified AMD-associated variants of genes (CFH, CFB, C3, FHR1, FRH3, and ARMS2/HTRA).2014-07-12
24595987Eyes with exudative macular degeneration, reticular pseudodrusen is more common in eyes with retinal angiomatous proliferation having a thin choroid at the fovea, especially in old, female patients with the risk variant of ARMS2 A69S.2015-01-31
24612979This study did not show a correlation between ARMS2, C3, MT-NDH2, and CFH alleles in the development of choroid neovascularization associated with ocular histoplasmosis.2014-09-13
24781946In terms of ARMS2 and CFH, genetic background of patients with CVH and type 1 CNV was different from those with AMD, but rather similar to the general Japanese population.2014-07-26
24847905The association with the CFH Y402 risk allele was less pronounced in retinal angiomatous proliferation patients (RAP) than in non-RAP CNV patients, while the association with high age and arterial hypertension appeared to be stronger.2015-05-16
24865190Gene variants in CFH, ARMS2 and HTRA1 are related to an increased risk of age-related macular degeneration in a northern Chinese population.2015-08-15
24953792There were no statistically significant interactions between current smoking or pack-years smoked and CFH or ARMS2 genotype in age-related macular degeneration.2014-11-22
24970616Variants in CFH, ABCA1, and ARMS2 genes are related to the presence and progression of drusen in early age-related macular degeneration.2015-01-10
24974817Genotypes at the CFH and ARMS2 loci did not statistically significantly alter the benefits of Age-Related Eye Disease Study (AREDS) supplements.2015-03-28
25077532High-risk alleles in the CFH and ARMS2/HTRA1 genes were not associated with increasing autosomal dominant radial drusen severity.2015-06-20
25091949The combined geographic atrophy/choroidal neovascularization phenotype has similar epidemiologic, clinical, and genetic features.2015-02-28
25185256This study shows an association between A69S polymorphism in the ARMS2 gene and the anti-angiogenesis treatment response.2015-07-25
25200399The benefit of the AREDS formulation seems the result of a favorable response by patients in only 1 genotype group, balanced by neutral or unfavorable responses in 3 genotype groups.2015-03-21
25205864Index variants of AMD, rs1061170 (CFH) and rs10490924 (ARMS2), were associated with AMD at P=3.05x10(-8) and P=6.36x10(-6), respectively, in European Americans.2014-12-27
25205867A total of 12 weeks of exposure to mainstream cigarette smoke led to CNV rates of 7.7% for wild type (Wt) mice and 20% for HtrA1 Tg mice, but had no effect on ARMS2 Tg mice.2014-12-27
25439433Chronic chronic central serous chorioretinopathy (CSC) is associated with genetic variants in ARMS2 and CFH, indicating a genetic and pathophysiologic overlap between cCSC and age-related macular degeneration.2015-06-20
25519903HTRA1 gene is transcriptionally regulated by insertion/deletion nucleotides located at the 3' end of the ARMS2 gene in patients with age-related macular degeneration.2015-04-18
25695752Patients carrying 4 risk alleles in CFH and ARMS2 developed neovascular AMD 12.2 (95% CI, 6.2-18.3) years earlier than patients with zero risk alleles (P < .001).2015-08-15
25715554There is association of ARMS2 gene polymorphism with different subtypes of Age-related macular degeneration2015-03-28
25771815In this study, we found that the interaction of ARMS2 and ARMS2/HTRA1 is significantly associated with nAMD, and the interaction of CFH and ARMS2 is pronounced in PCV development in Chinese population.2015-12-05
25786237Determined the differential effects of genetic polymorphism in CFH and ARMS2 on risk of age-related macular degeneration (AMD)2016-04-02
25792034results suggest that calcium, ARMS2 genotype, C. pneumonia infection, and age are significant factors in the development of the early stages of AMD.2016-01-02
26132079No significant interaction was found between DHA supplementation benefit and ARMS2 A69S SNP.2016-04-09
26275133GRS using ARMS2, CFH, TNFRSF10A, VEGFA, and CFI was significantly associated with second-eye involvement. Genetic risk has high predictive ability for second-eye involvement of AMD.2015-10-31
26337002The growth of choroidal neovascularization in AMD would be affected by 2 genes: MMP20, a newly confirmed gene expressed in the retina, and ARMS2/HTRA1, a well-known susceptibility gene for AMD.2016-02-06
26427389Studies indicate that the high-risk allele of the 10q26 locus encompasses three genes, PLEKHA1, ARMS2, and HTRA1 with high linkage disequilibrium.2016-04-23
Reference
http://www.ncbi.nlm.nih.gov/gene/about-generif
ftp://ftp.ncbi.nih.gov/gene/GeneRIF/

OMICSDI Browser



Relevant citations within the PubMed literature

         

Putative/known Functions



Localisation



Homologues, Orthologues, Paralogues and Family



Sequence Similarity and Functional Annotation


Sequence Similarity

Db NameQuery UniSubject UniSequence LengthAlignment LengthIdentityCoverageMismatchesGap OpeningsQuery StartQuery EndSubject StartSubject EndEvalueBit Score
All Reviewed HumanARMS2_HUMANARMS2_HUMAN10710710010000110711072.00E-57216
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

Post Translational Modifications



Protein Protein Interactions



Best Available Mass Spectra without FDR




gpmDB

Evidence File
/mnt/mpp/ms_data/P0C7Q2_gpmdb.txt
Reference
Fenyö, David; Beavis, Ronald C. (2015). "The GPMDB REST interface". Bioinformatics 31 (12): 2056–2058. doi:10.1093/bioinformatics/btv107. ISSN 1367-4803.
http://gpmdb.thegpm.org/ ">Global Proteome Machine Database - THE GPM


Showing 1-1 of 1 item.

PRIDE

Peptide SequenceScoresPride IDSpectrum IDAnnotation
MLRLYPGPMVTEAEGK0.00699163108100686,Mascot:expectation;22.98,Mascot:score;PXD001327_39773_4548_P0C7Q2_MLRLYPGPMVTEAEGKPXD001327;ZR-75-1_cyt2_2.mgf;index=31149
Evidence File
/mnt/mpp/ms_data/P0C7Q2_pridedb.txt
Reference
Vizcaino JA, et al. 2016 update of the PRIDE database and related tools. Nucleic Acids Res. 2016 Jan 1;44(D1):D447-D456.
https://www.ebi.ac.uk/pride/archive/ ">PRIDE Archive


Proteomics DB

Evidence File
/mnt/mpp/ms_data/P0C7Q2_protdb.txt
Reference
Wilhelm, M et al. (2014) Mass-spectrometry-based draft of the human proteome. Nature. 509:582-7.
https://www.proteomicsdb.org/ ">Proteomics DB