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P0C7Q2

- ARMS2_HUMAN

UniProt

P0C7Q2 - ARMS2_HUMAN

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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

Functioni

GO - Biological processi

  1. retina homeostasis Source: BHF-UCL
Complete GO annotation...

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
Complete GO annotation...

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

GeneTreeiENSGT00650000095054.
InParanoidiP0C7Q2.
OMAiSMIPAAK.
OrthoDBiEOG7X0VKD.

Sequencei

Sequence statusi: Complete.

P0C7Q2-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MLRLYPGPMV TEAEGKGGPE MASLSSSVVP VSFISTLRES VLDPGVGGEG
60 70 80 90 100
ASDKQRSKLS LSHSMIPAAK IHTELCLPAF FSPAGTQRRF QQPQHHLTLS

IIHTAAR
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

GeneTreei ENSGT00650000095054.
InParanoidi P0C7Q2.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 46 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