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P0C7Q2

- ARMS2_HUMAN

UniProt

P0C7Q2 - ARMS2_HUMAN

Protein

Age-related maculopathy susceptibility protein 2

Gene

ARMS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
  1. Functioni

    GO - Biological processi

    1. retina homeostasis Source: BHF-UCL

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Age-related maculopathy susceptibility protein 2
    Gene namesi
    Name:ARMS2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:32685. ARMS2.

    Subcellular locationi

    Cytoplasm 2 Publications

    GO - Cellular componenti

    1. mitochondrion Source: BHF-UCL
    2. photoreceptor inner segment Source: BHF-UCL

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Macular degeneration, age-related, 8 (ARMD8) [MIM:613778]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.11 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

    Keywords - Diseasei

    Age-related macular degeneration

    Organism-specific databases

    MIMi613778. phenotype.
    Orphaneti279. Age-related macular degeneration.
    PharmGKBiPA162376896.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 107107Age-related maculopathy susceptibility protein 2PRO_0000342668Add
    BLAST

    Proteomic databases

    PRIDEiP0C7Q2.

    PTM databases

    PhosphoSiteiP0C7Q2.

    Expressioni

    Tissue specificityi

    Detected in retina and placenta.1 Publication

    Gene expression databases

    BgeeiP0C7Q2.
    CleanExiHS_ARMS2.
    GenevestigatoriP0C7Q2.

    Family & Domainsi

    Phylogenomic databases

    OMAiSMIPAAK.
    OrthoDBiEOG7X0VKD.

    Sequencei

    Sequence statusi: Complete.

    P0C7Q2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLRLYPGPMV TEAEGKGGPE MASLSSSVVP VSFISTLRES VLDPGVGGEG    50
    ASDKQRSKLS LSHSMIPAAK IHTELCLPAF FSPAGTQRRF QQPQHHLTLS 100
    IIHTAAR 107
    Length:107
    Mass (Da):11,437
    Last modified:July 1, 2008 - v1
    Checksum:i2F8D3812B5DDF55F
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31R → H.
    Corresponds to variant rs10490923 [ dbSNP | Ensembl ].
    VAR_044330
    Natural varianti69 – 691A → S.11 Publications
    Corresponds to variant rs10490924 [ dbSNP | Ensembl ].
    VAR_044331

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BX842242 Genomic DNA. No translation available.
    BC066349 mRNA. No translation available.
    EU427528 Genomic DNA. Translation: ACA35288.1.
    CCDSiCCDS53585.1.
    RefSeqiNP_001093137.1. NM_001099667.1.
    UniGeneiHs.120359.

    Genome annotation databases

    EnsembliENST00000528446; ENSP00000436682; ENSG00000254636.
    GeneIDi387715.
    KEGGihsa:387715.
    UCSCiuc001lgi.3. human.

    Polymorphism databases

    DMDMi193806692.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BX842242 Genomic DNA. No translation available.
    BC066349 mRNA. No translation available.
    EU427528 Genomic DNA. Translation: ACA35288.1 .
    CCDSi CCDS53585.1.
    RefSeqi NP_001093137.1. NM_001099667.1.
    UniGenei Hs.120359.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei P0C7Q2.

    Polymorphism databases

    DMDMi 193806692.

    Proteomic databases

    PRIDEi P0C7Q2.

    Protocols and materials databases

    DNASUi 387715.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000528446 ; ENSP00000436682 ; ENSG00000254636 .
    GeneIDi 387715.
    KEGGi hsa:387715.
    UCSCi uc001lgi.3. human.

    Organism-specific databases

    CTDi 387715.
    GeneCardsi GC10P124205.
    HGNCi HGNC:32685. ARMS2.
    MIMi 611313. gene.
    613778. phenotype.
    neXtProti NX_P0C7Q2.
    Orphaneti 279. Age-related macular degeneration.
    PharmGKBi PA162376896.
    GenAtlasi Search...

    Phylogenomic databases

    OMAi SMIPAAK.
    OrthoDBi EOG7X0VKD.

    Miscellaneous databases

    GeneWikii ARMS2.
    GenomeRNAii 387715.
    NextBioi 101537.
    PROi P0C7Q2.
    SOURCEi Search...

    Gene expression databases

    Bgeei P0C7Q2.
    CleanExi HS_ARMS2.
    Genevestigatori P0C7Q2.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA."
      Fritsche L.G., Loenhardt T., Janssen A., Fisher S.A., Rivera A., Keilhauer C.N., Weber B.H.
      Nat. Genet. 40:892-896(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 18-99.
    4. "Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk."
      Rivera A., Fisher S.A., Fritsche L.G., Keilhauer C.N., Lichtner P., Meitinger T., Weber B.H.F.
      Hum. Mol. Genet. 14:3227-3236(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INVOLVEMENT IN ARMD8, VARIANT SER-69.
    5. "A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration."
      Kanda A., Chen W., Othman M., Branham K.E.H., Brooks M., Khanna R., He S., Lyons R., Abecasis G.R., Swaroop A.
      Proc. Natl. Acad. Sci. U.S.A. 104:16227-16232(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: PRELIMINARY SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN ARMD8, VARIANT SER-69.
    6. "Expression of recombinant protein encoded by LOC387715 in Escherichia coli."
      Chen D., Langford M.P., Duggan C., Madden B.J., Edwards A.O.
      Protein Expr. Purif. 54:275-282(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: PURIFICATION OF RECOMBINANT PROTEIN.
    7. "Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration."
      Schmidt S., Hauser M.A., Scott W.K., Postel E.A., Agarwal A., Gallins P., Wong F., Chen Y.S., Spencer K., Schnetz-Boutaud N., Haines J.L., Pericak-Vance M.A.
      Am. J. Hum. Genet. 78:852-864(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ARMD8, VARIANT SER-69.
    8. "CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses."
      Conley Y.P., Jakobsdottir J., Mah T., Weeks D.E., Klein R., Kuller L., Ferrell R.E., Gorin M.B.
      Hum. Mol. Genet. 15:3206-3218(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ARMD8, VARIANT SER-69.
    9. "Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration."
      Maller J., George S., Purcell S., Fagerness J., Altshuler D., Daly M.J., Seddon J.M.
      Nat. Genet. 38:1055-1059(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ARMD8, VARIANT SER-69.
    10. Cited for: INVOLVEMENT IN ARMD8, VARIANT SER-69.
    11. "A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors."
      Schaumberg D.A., Hankinson S.E., Guo Q., Rimm E., Hunter D.J.
      Arch. Ophthalmol. 125:55-62(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ARMD8, VARIANT SER-69.
    12. "Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients."
      Kaur I., Katta S., Hussain A., Hussain N., Mathai A., Narayanan R., Hussain A., Reddy R.K., Majji A.B., Das T., Chakrabarti S.
      Invest. Ophthalmol. Vis. Sci. 49:1771-1776(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ARMD8, VARIANT SER-69.
    13. Cited for: INVOLVEMENT IN ARMD8, VARIANT SER-69.
    14. "The LOC387715 polymorphism, inflammatory markers, smoking, and age-related macular degeneration. A population-based case-control study."
      Wang J.J., Ross R.J., Tuo J., Burlutsky G., Tan A.G., Chan C.-C., Favaloro E.J., Williams A., Mitchell P.
      Ophthalmology 115:693-699(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ARMD8, VARIANT SER-69.
    15. "CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration."
      Klein M.L., Francis P.J., Rosner B., Reynolds R., Hamon S.C., Schultz D.W., Ott J., Seddon J.M.
      Ophthalmology 115:1019-1025(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ARMD8, VARIANT SER-69.
    16. "Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria."
      Wang G., Spencer K.L., Court B.L., Olson L.M., Scott W.K., Haines J.L., Pericak-Vance M.A.
      Invest. Ophthalmol. Vis. Sci. 50:3084-3090(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
      Tissue: Retinal pigment epithelium.

    Entry informationi

    Entry nameiARMS2_HUMAN
    AccessioniPrimary (citable) accession number: P0C7Q2
    Secondary accession number(s): B2Y7I5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 2008
    Last sequence update: July 1, 2008
    Last modified: October 1, 2014
    This is version 45 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3