ARMS2_HUMAN
ID ARMS2_HUMAN Reviewed; 107 AA.
AC P0C7Q2; B2Y7I5;
DT 01-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUL-2008, sequence version 1.
DT 03-AUG-2022, entry version 82.
DE RecName: Full=Age-related maculopathy susceptibility protein 2;
GN Name=ARMS2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 18-99.
RX PubMed=18511946; DOI=10.1038/ng.170;
RA Fritsche L.G., Loenhardt T., Janssen A., Fisher S.A., Rivera A.,
RA Keilhauer C.N., Weber B.H.;
RT "Age-related macular degeneration is associated with an unstable ARMS2
RT (LOC387715) mRNA.";
RL Nat. Genet. 40:892-896(2008).
RN [4]
RP SUBCELLULAR LOCATION, INVOLVEMENT IN ARMD8, AND VARIANT SER-69.
RX PubMed=16174643; DOI=10.1093/hmg/ddi353;
RA Rivera A., Fisher S.A., Fritsche L.G., Keilhauer C.N., Lichtner P.,
RA Meitinger T., Weber B.H.F.;
RT "Hypothetical LOC387715 is a second major susceptibility gene for age-
RT related macular degeneration, contributing independently of complement
RT factor H to disease risk.";
RL Hum. Mol. Genet. 14:3227-3236(2005).
RN [5]
RP PRELIMINARY SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN ARMD8,
RP AND VARIANT SER-69.
RX PubMed=17884985; DOI=10.1073/pnas.0703933104;
RA Kanda A., Chen W., Othman M., Branham K.E.H., Brooks M., Khanna R., He S.,
RA Lyons R., Abecasis G.R., Swaroop A.;
RT "A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly
RT associated with age-related macular degeneration.";
RL Proc. Natl. Acad. Sci. U.S.A. 104:16227-16232(2007).
RN [6]
RP PURIFICATION OF RECOMBINANT PROTEIN.
RX PubMed=17485225; DOI=10.1016/j.pep.2007.03.017;
RA Chen D., Langford M.P., Duggan C., Madden B.J., Edwards A.O.;
RT "Expression of recombinant protein encoded by LOC387715 in Escherichia
RT coli.";
RL Protein Expr. Purif. 54:275-282(2007).
RN [7]
RP INVOLVEMENT IN ARMD8, AND VARIANT SER-69.
RX PubMed=16642439; DOI=10.1086/503822;
RA Schmidt S., Hauser M.A., Scott W.K., Postel E.A., Agarwal A., Gallins P.,
RA Wong F., Chen Y.S., Spencer K., Schnetz-Boutaud N., Haines J.L.,
RA Pericak-Vance M.A.;
RT "Cigarette smoking strongly modifies the association of LOC387715 and age-
RT related macular degeneration.";
RL Am. J. Hum. Genet. 78:852-864(2006).
RN [8]
RP INVOLVEMENT IN ARMD8, AND VARIANT SER-69.
RX PubMed=17000705; DOI=10.1093/hmg/ddl396;
RA Conley Y.P., Jakobsdottir J., Mah T., Weeks D.E., Klein R., Kuller L.,
RA Ferrell R.E., Gorin M.B.;
RT "CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related
RT maculopathy: AREDS and CHS cohorts and meta-analyses.";
RL Hum. Mol. Genet. 15:3206-3218(2006).
RN [9]
RP INVOLVEMENT IN ARMD8, AND VARIANT SER-69.
RX PubMed=16936732; DOI=10.1038/ng1873;
RA Maller J., George S., Purcell S., Fagerness J., Altshuler D., Daly M.J.,
RA Seddon J.M.;
RT "Common variation in three genes, including a noncoding variant in CFH,
RT strongly influences risk of age-related macular degeneration.";
RL Nat. Genet. 38:1055-1059(2006).
RN [10]
RP INVOLVEMENT IN ARMD8, AND VARIANT SER-69.
RX PubMed=17053108; DOI=10.1126/science.1133807;
RA Dewan A., Liu M., Hartman S., Zhang S.S.-M., Liu D.T.L., Zhao C.,
RA Tam P.O.S., Chan W.M., Lam D.S.C., Snyder M., Barnstable C., Pang C.P.,
RA Hoh J.;
RT "HTRA1 promoter polymorphism in wet age-related macular degeneration.";
RL Science 314:989-992(2006).
RN [11]
RP INVOLVEMENT IN ARMD8, AND VARIANT SER-69.
RX PubMed=17210852; DOI=10.1001/archopht.125.1.55;
RA Schaumberg D.A., Hankinson S.E., Guo Q., Rimm E., Hunter D.J.;
RT "A prospective study of 2 major age-related macular degeneration
RT susceptibility alleles and interactions with modifiable risk factors.";
RL Arch. Ophthalmol. 125:55-62(2007).
RN [12]
RP INVOLVEMENT IN ARMD8, AND VARIANT SER-69.
RX PubMed=18436811; DOI=10.1167/iovs.07-0560;
RA Kaur I., Katta S., Hussain A., Hussain N., Mathai A., Narayanan R.,
RA Hussain A., Reddy R.K., Majji A.B., Das T., Chakrabarti S.;
RT "Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced
RT risk of age-related macular degeneration along with CFH in Indian
RT patients.";
RL Invest. Ophthalmol. Vis. Sci. 49:1771-1776(2008).
RN [13]
RP INVOLVEMENT IN ARMD8, AND VARIANT SER-69.
RX PubMed=18452766; DOI=10.1016/j.ophtha.2007.12.012;
RA Recalde S., Fernandez-Robredo P., Altarriba M., Salinas-Alaman A.,
RA Garcia-Layana A.;
RT "Age-related macular degeneration genetics.";
RL Ophthalmology 115:916-916(2008).
RN [14]
RP INVOLVEMENT IN ARMD8, AND VARIANT SER-69.
RX PubMed=17675241; DOI=10.1016/j.ophtha.2007.05.038;
RA Wang J.J., Ross R.J., Tuo J., Burlutsky G., Tan A.G., Chan C.-C.,
RA Favaloro E.J., Williams A., Mitchell P.;
RT "The LOC387715 polymorphism, inflammatory markers, smoking, and age-related
RT macular degeneration. A population-based case-control study.";
RL Ophthalmology 115:693-699(2008).
RN [15]
RP INVOLVEMENT IN ARMD8, AND VARIANT SER-69.
RX PubMed=18423869; DOI=10.1016/j.ophtha.2008.01.036;
RA Klein M.L., Francis P.J., Rosner B., Reynolds R., Hamon S.C., Schultz D.W.,
RA Ott J., Seddon J.M.;
RT "CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc
RT for age-related macular degeneration.";
RL Ophthalmology 115:1019-1025(2008).
RN [16]
RP SUBCELLULAR LOCATION.
RC TISSUE=Retinal pigment epithelium;
RX PubMed=19255159; DOI=10.1167/iovs.08-3240;
RA Wang G., Spencer K.L., Court B.L., Olson L.M., Scott W.K., Haines J.L.,
RA Pericak-Vance M.A.;
RT "Localization of age-related macular degeneration-associated ARMS2 in
RT cytosol, not mitochondria.";
RL Invest. Ophthalmol. Vis. Sci. 50:3084-3090(2009).
CC -!- INTERACTION:
CC P0C7Q2; P27918: CFP; NbExp=8; IntAct=EBI-21986906, EBI-9038570;
CC P0C7Q2; Q96RW7: HMCN1; NbExp=4; IntAct=EBI-21986906, EBI-2806183;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16174643,
CC ECO:0000269|PubMed:19255159}.
CC -!- TISSUE SPECIFICITY: Detected in retina and placenta.
CC {ECO:0000269|PubMed:17884985}.
CC -!- DISEASE: Macular degeneration, age-related, 8 (ARMD8) [MIM:613778]: A
CC form of age-related macular degeneration, a multifactorial eye disease
CC and the most common cause of irreversible vision loss in the developed
CC world. In most patients, the disease is manifest as ophthalmoscopically
CC visible yellowish accumulations of protein and lipid that lie beneath
CC the retinal pigment epithelium and within an elastin-containing
CC structure known as Bruch membrane. {ECO:0000269|PubMed:16174643,
CC ECO:0000269|PubMed:16642439, ECO:0000269|PubMed:16936732,
CC ECO:0000269|PubMed:17000705, ECO:0000269|PubMed:17053108,
CC ECO:0000269|PubMed:17210852, ECO:0000269|PubMed:17675241,
CC ECO:0000269|PubMed:17884985, ECO:0000269|PubMed:18423869,
CC ECO:0000269|PubMed:18436811, ECO:0000269|PubMed:18452766}. Note=Disease
CC susceptibility is associated with variants affecting the gene
CC represented in this entry.
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DR EMBL; BX842242; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC066349; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; EU427528; ACA35288.1; -; Genomic_DNA.
DR CCDS; CCDS53585.1; -.
DR RefSeq; NP_001093137.1; NM_001099667.1.
DR AlphaFoldDB; P0C7Q2; -.
DR BioGRID; 132409; 7.
DR IntAct; P0C7Q2; 10.
DR STRING; 9606.ENSP00000436682; -.
DR BioMuta; ARMS2; -.
DR DMDM; 193806692; -.
DR MassIVE; P0C7Q2; -.
DR PaxDb; P0C7Q2; -.
DR PeptideAtlas; P0C7Q2; -.
DR PRIDE; P0C7Q2; -.
DR Antibodypedia; 53254; 66 antibodies from 21 providers.
DR DNASU; 387715; -.
DR Ensembl; ENST00000528446.1; ENSP00000436682.1; ENSG00000254636.1.
DR GeneID; 387715; -.
DR KEGG; hsa:387715; -.
DR MANE-Select; ENST00000528446.1; ENSP00000436682.1; NM_001099667.3; NP_001093137.1.
DR UCSC; uc001lgi.4; human.
DR CTD; 387715; -.
DR DisGeNET; 387715; -.
DR GeneCards; ARMS2; -.
DR HGNC; HGNC:32685; ARMS2.
DR HPA; ENSG00000254636; Tissue enhanced (brain, testis).
DR MalaCards; ARMS2; -.
DR MIM; 611313; gene.
DR MIM; 613778; phenotype.
DR neXtProt; NX_P0C7Q2; -.
DR OpenTargets; ENSG00000254636; -.
DR Orphanet; 279; NON RARE IN EUROPE: Age-related macular degeneration.
DR PharmGKB; PA162376896; -.
DR VEuPathDB; HostDB:ENSG00000254636; -.
DR eggNOG; ENOG502TERZ; Eukaryota.
DR GeneTree; ENSGT00650000095054; -.
DR HOGENOM; CLU_2222374_0_0_1; -.
DR InParanoid; P0C7Q2; -.
DR OMA; CLPAFFS; -.
DR OrthoDB; 1496601at2759; -.
DR PathwayCommons; P0C7Q2; -.
DR SignaLink; P0C7Q2; -.
DR BioGRID-ORCS; 387715; 13 hits in 1072 CRISPR screens.
DR GeneWiki; ARMS2; -.
DR GenomeRNAi; 387715; -.
DR Pharos; P0C7Q2; Tbio.
DR PRO; PR:P0C7Q2; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; P0C7Q2; protein.
DR Bgee; ENSG00000254636; Expressed in placenta and 75 other tissues.
DR GO; GO:0005739; C:mitochondrion; IDA:BHF-UCL.
DR GO; GO:0001917; C:photoreceptor inner segment; IDA:BHF-UCL.
DR GO; GO:0001895; P:retina homeostasis; IMP:BHF-UCL.
PE 1: Evidence at protein level;
KW Age-related macular degeneration; Cytoplasm; Reference proteome.
FT CHAIN 1..107
FT /note="Age-related maculopathy susceptibility protein 2"
FT /id="PRO_0000342668"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 3
FT /note="R -> H (in dbSNP:rs10490923)"
FT /id="VAR_044330"
FT VARIANT 69
FT /note="A -> S (in dbSNP:rs10490924)"
FT /evidence="ECO:0000269|PubMed:16174643,
FT ECO:0000269|PubMed:16642439, ECO:0000269|PubMed:16936732,
FT ECO:0000269|PubMed:17000705, ECO:0000269|PubMed:17053108,
FT ECO:0000269|PubMed:17210852, ECO:0000269|PubMed:17675241,
FT ECO:0000269|PubMed:17884985, ECO:0000269|PubMed:18423869,
FT ECO:0000269|PubMed:18436811, ECO:0000269|PubMed:18452766"
FT /id="VAR_044331"
SQ SEQUENCE 107 AA; 11437 MW; 2F8D3812B5DDF55F CRC64;
MLRLYPGPMV TEAEGKGGPE MASLSSSVVP VSFISTLRES VLDPGVGGEG ASDKQRSKLS
LSHSMIPAAK IHTELCLPAF FSPAGTQRRF QQPQHHLTLS IIHTAAR
