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 24-JAN-2024, entry version 90. 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. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; 9606-ENSP00000436682; -. DR PeptideAtlas; P0C7Q2; -. DR Antibodypedia; 53254; 76 antibodies from 22 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 AGR; HGNC:32685; -. DR CTD; 387715; -. DR DisGeNET; 387715; -. DR GeneCards; ARMS2; -. DR HGNC; HGNC:32685; ARMS2. DR HPA; ENSG00000254636; Tissue enhanced (placenta, 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; HSMIPAA; -. DR OrthoDB; 4734469at2759; -. DR PathwayCommons; P0C7Q2; -. DR SignaLink; P0C7Q2; -. DR BioGRID-ORCS; 387715; 13 hits in 1145 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 primordial germ cell in gonad and 76 other cell types or 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 //