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P0C7Q2 (ARMS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 42. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Age-related maculopathy susceptibility protein 2
Gene names
Name:ARMS2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length107 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Cytoplasm Ref.4 Ref.5 Ref.16.

Tissue specificity

Detected in retina and placenta. Ref.5

Involvement in disease

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.4 Ref.5 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityPolymorphism
   DiseaseAge-related macular degeneration
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processretina homeostasis

Inferred from mutant phenotype Ref.3. Source: BHF-UCL

   Cellular_componentmitochondrion

Inferred from direct assay Ref.3. Source: BHF-UCL

photoreceptor inner segment

Inferred from direct assay Ref.3. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 107107Age-related maculopathy susceptibility protein 2
PRO_0000342668

Natural variations

Natural variant31R → H.
Corresponds to variant rs10490923 [ dbSNP | Ensembl ].
VAR_044330
Natural variant691A → S. Ref.4 Ref.5 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15
Corresponds to variant rs10490924 [ dbSNP | Ensembl ].
VAR_044331

Sequences

Sequence LengthMass (Da)Tools
P0C7Q2 [UniParc].

Last modified July 1, 2008. Version 1.
Checksum: 2F8D3812B5DDF55F

FASTA10711,437
        10         20         30         40         50         60 
MLRLYPGPMV TEAEGKGGPE MASLSSSVVP VSFISTLRES VLDPGVGGEG ASDKQRSKLS 

        70         80         90        100 
LSHSMIPAAK IHTELCLPAF FSPAGTQRRF QQPQHHLTLS IIHTAAR 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"HTRA1 promoter polymorphism in wet age-related macular degeneration."
Dewan A., Liu M., Hartman S., Zhang S.S.-M., Liu D.T.L., Zhao C., Tam P.O.S., Chan W.M., Lam D.S.C., Snyder M., Barnstable C., Pang C.P., Hoh J.
Science 314:989-992(2006) [PubMed] [Europe PMC] [Abstract]
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]"Age-related macular degeneration genetics."
Recalde S., Fernandez-Robredo P., Altarriba M., Salinas-Alaman A., Garcia-Layana A.
Ophthalmology 115:916-916(2008) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
BX842242 Genomic DNA. No translation available.
BC066349 mRNA. No translation available.
EU427528 Genomic DNA. Translation: ACA35288.1.
RefSeqNP_001093137.1. NM_001099667.1.
UniGeneHs.120359.

3D structure databases

ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteP0C7Q2.

Polymorphism databases

DMDM193806692.

Proteomic databases

PRIDEP0C7Q2.

Protocols and materials databases

DNASU387715.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000528446; ENSP00000436682; ENSG00000254636.
GeneID387715.
KEGGhsa:387715.
UCSCuc001lgi.3. human.

Organism-specific databases

CTD387715.
GeneCardsGC10P124205.
HGNCHGNC:32685. ARMS2.
MIM611313. gene.
613778. phenotype.
neXtProtNX_P0C7Q2.
Orphanet279. Age-related macular degeneration.
PharmGKBPA162376896.
GenAtlasSearch...

Phylogenomic databases

OMAHTELCLP.
OrthoDBEOG7X0VKD.

Gene expression databases

BgeeP0C7Q2.
CleanExHS_ARMS2.
GenevestigatorP0C7Q2.

Family and domain databases

ProtoNetSearch...

Other

GeneWikiARMS2.
GenomeRNAi387715.
NextBio101537.
PROP0C7Q2.
SOURCESearch...

Entry information

Entry nameARMS2_HUMAN
AccessionPrimary (citable) accession number: P0C7Q2
Secondary accession number(s): B2Y7I5
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 2008
Last sequence update: July 1, 2008
Last modified: March 19, 2014
This is version 42 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM