ARMS2

Article
Talk

Age-related maculopathy susceptibility protein 2, is a mitochondrial protein that in humans is encoded by the ARMS2 gene.^[3]^[4]^[5]

ARMS2

Identifiers

ARMS2, ARMD8, age-related maculopathy susceptibility 2

External IDs

OMIM: 611313; HomoloGene: 88167; GeneCards: ARMS2; OMA:ARMS2 - orthologs

Gene location (Human)

Chr.	Chromosome 10 (human)^[1]

Band	10q26.13	Start	122,454,653 bp^[1]
Band	10q26.13	End	122,457,352 bp^[1]

RNA expression pattern

Human

Mouse (ortholog)

Top expressed in

gonad

placenta

left ovary

left testis

right testis

right ovary

pituitary gland

smooth muscle tissue

anterior pituitary

right lobe of liver

n/a

More reference expression data

n/a

Species

Human

Mouse


387715


n/a


ENSG00000254636


n/a


P0C7Q2


n/a

RefSeq (mRNA)


NM_001099667


n/a

RefSeq (protein)


NP_001093137


n/a

Location (UCSC)

Chr 10: 122.45 – 122.46 Mb

n/a

PubMed search

^[2]

n/a

View/Edit Human

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000254636 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB (Aug 2005). "Susceptibility genes for age-related maculopathy on chromosome 10q26". Am J Hum Genet. 77 (3): 389–407. doi:10.1086/444437. PMC 1226205. PMID 16080115.
^ Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH (Oct 2005). "Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk". Hum Mol Genet. 14 (21): 3227–36. doi:10.1093/hmg/ddi353. PMID 16174643.
^ "Entrez Gene: ARMS2 age-related maculopathy susceptibility 2".

External links

Human ARMS2 genome location and ARMS2 gene details page in the UCSC Genome Browser.

Further reading

Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Schmidt S, Hauser MA, Scott WK, et al. (2006). "Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration". Am. J. Hum. Genet. 78 (5): 852–64. doi:10.1086/503822. PMC 1474047. PMID 16642439.
Shastry BS (2006). "Further support for the common variants in complement factor H (Y402H) and LOC387715 (A69S) genes as major risk factors for the exudative age-related macular degeneration". Ophthalmologica. 220 (5): 291–5. doi:10.1159/000094617. PMID 16954704. S2CID 30250011.
Conley YP, Jakobsdottir J, Mah T, et al. (2006). "CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses" (PDF). Hum. Mol. Genet. 15 (21): 3206–18. doi:10.1093/hmg/ddl396. PMID 17000705.
Tanimoto S, Tamura H, Ue T, et al. (2007). "A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population". Neurosci. Lett. 414 (1): 71–4. doi:10.1016/j.neulet.2006.12.011. PMID 17194541. S2CID 19228896.
Shastry BS (2007). "Assessment of the contribution of the LOC387715 gene polymorphism in a family with exudative age-related macular degeneration and heterozygous CFH variant (Y402H)". J. Hum. Genet. 52 (4): 384–7. doi:10.1007/s10038-007-0120-y. PMID 17285240.
Ross RJ, Bojanowski CM, Wang JJ, et al. (2007). "The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples". Invest. Ophthalmol. Vis. Sci. 48 (3): 1128–32. doi:10.1167/iovs.06-0999. PMC 1885234. PMID 17325155.
Francis PJ, George S, Schultz DW, et al. (2007). "The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration". Hum. Hered. 63 (3–4): 212–8. doi:10.1159/000100046. PMID 17347568. S2CID 43821054.
Chen D, Langford MP, Duggan C, et al. (2007). "Expression of recombinant protein encoded by LOC387715 in Escherichia coli". Protein Expr. Purif. 54 (2): 275–82. doi:10.1016/j.pep.2007.03.017. PMC 2780029. PMID 17485225.
Kondo N, Honda S, Ishibashi K, et al. (2007). "LOC387715/HTRA1 variants in polypoidal choroidal vasculopathy and age-related macular degeneration in a Japanese population". Am. J. Ophthalmol. 144 (4): 608–12. doi:10.1016/j.ajo.2007.06.003. PMID 17692272.
Wiggs JL (2007). "Macular degeneration: risk factors for progression". Arch. Ophthalmol. 125 (9): 1264–5. doi:10.1001/archopht.125.9.1264. PMID 17846368.
Kanda A, Chen W, Othman M, et al. (2007). "A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration". Proc. Natl. Acad. Sci. U.S.A. 104 (41): 16227–32. Bibcode:2007PNAS..10416227K. doi:10.1073/pnas.0703933104. PMC 1987388. PMID 17884985.
Brantley MA, Fang AM, King JM, et al. (2007). "Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab". Ophthalmology. 114 (12): 2168–73. doi:10.1016/j.ophtha.2007.09.008. PMID 18054635.

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