Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ARMS2 Gene

Aliases for ARMS2 Gene

  • Age-Related Maculopathy Susceptibility 2 2 3
  • ARMD8 3 6
  • Age-Related Maculopathy Susceptibility Protein 2 3
  • LOC387715 6

External Ids for ARMS2 Gene

Previous GeneCards Identifiers for ARMS2 Gene

  • GC10P124205
  • GC10P117844

Summaries for ARMS2 Gene

Entrez Gene Summary for ARMS2 Gene

  • This gene encodes a protein that is thought to play a role in diseases in the elderly. Mutations in this gene have been associated with age-related macular degeneration. [provided by RefSeq, Oct 2008]

GeneCards Summary for ARMS2 Gene

ARMS2 (Age-Related Maculopathy Susceptibility 2) is a Protein Coding gene. Diseases associated with ARMS2 include macular degeneration, age-related, 8 and retinal drusen.

Gene Wiki entry for ARMS2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARMS2 Gene

Genomics for ARMS2 Gene

Regulatory Elements for ARMS2 Gene

Genomic Location for ARMS2 Gene

Start:
122,454,653 bp from pter
End:
122,457,352 bp from pter
Size:
2,700 bases
Orientation:
Plus strand

Genomic View for ARMS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARMS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARMS2 Gene

Proteins for ARMS2 Gene

  • Protein details for ARMS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C7Q2-ARMS2_HUMAN
    Recommended name:
    Age-related maculopathy susceptibility protein 2
    Protein Accession:
    P0C7Q2
    Secondary Accessions:
    • B2Y7I5

    Protein attributes for ARMS2 Gene

    Size:
    107 amino acids
    Molecular mass:
    11437 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ARMS2 Gene

Proteomics data for ARMS2 Gene at MOPED

Post-translational modifications for ARMS2 Gene

No Post-translational modifications

Other Protein References for ARMS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ARMS2 Gene

Domains for ARMS2 Gene

Protein Domains for ARMS2 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for ARMS2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ARMS2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for ARMS2 Gene

Function for ARMS2 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ARMS2 Gene

Localization for ARMS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARMS2 Gene

Cytoplasm.

Gene Ontology (GO) - Cellular Components for ARMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IDA 18511946
GO:0005739 mitochondrion IDA 18511946
genes like me logo Genes that share ontologies with ARMS2: view

No data available for Subcellular locations from COMPARTMENTS for ARMS2 Gene

Pathways for ARMS2 Gene

SuperPathways for ARMS2 Gene

No Data Available

Interacting Proteins for ARMS2 Gene

Gene Ontology (GO) - Biological Process for ARMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IMP 18511946
genes like me logo Genes that share ontologies with ARMS2: view

No data available for Pathways by source for ARMS2 Gene

Transcripts for ARMS2 Gene

mRNA/cDNA for ARMS2 Gene

(19) Selected AceView cDNA sequences:
(2) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ARMS2 Gene

Age-related maculopathy susceptibility 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ARMS2 Gene

No ASD Table

Relevant External Links for ARMS2 Gene

GeneLoc Exon Structure for
ARMS2
ECgene alternative splicing isoforms for
ARMS2

Expression for ARMS2 Gene

mRNA expression in normal human tissues for ARMS2 Gene

mRNA differential expression in normal tissues according to GTEx for ARMS2 Gene

This gene is overexpressed in Testis (13.6).

SOURCE GeneReport for Unigene cluster for ARMS2 Gene Hs.120359

mRNA Expression by UniProt/SwissProt for ARMS2 Gene

P0C7Q2-ARMS2_HUMAN
Tissue specificity: Detected in retina and placenta.
genes like me logo Genes that share expressions with ARMS2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein expression for ARMS2 Gene

Orthologs for ARMS2 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for ARMS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARMS2 35
  • 99.37 (n)
  • 98.11 (a)
ARMS2 36
  • 98 (a)
OneToOne
Species with no ortholog for ARMS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ARMS2 Gene

ENSEMBL:
Gene Tree for ARMS2 (if available)
TreeFam:
Gene Tree for ARMS2 (if available)

Paralogs for ARMS2 Gene

No data available for Paralogs for ARMS2 Gene

Variants for ARMS2 Gene

Sequence variations from dbSNP and Humsavar for ARMS2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs2672600 -- 122,453,723(+) gagcc(C/G)aggag upstream-variant-2KB
rs2672602 -- 122,457,309(+) GGTGA(C/T)AGGCA utr-variant-3-prime
rs2672603 -- 122,457,318(+) CATTA(A/C)CTAAA utr-variant-3-prime
rs2736911 -- 122,454,839(+) CTCTG(C/T)GAGAG reference, stop-gained
rs2736912 -- 122,456,078(+) GGGTT(C/T)GCCTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARMS2 Gene

Variant ID Type Subtype PubMed ID
nsv825594 CNV Gain 20364138
nsv7580 CNV Loss 18451855
esv2742095 CNV Deletion 23290073
esv28769 CNV Loss 19812545
esv9290 CNV Loss 19470904
esv2742106 CNV Deletion 23290073
esv2663177 CNV Deletion 23128226

Relevant External Links for ARMS2 Gene

HapMap Linkage Disequilibrium report
ARMS2
Human Gene Mutation Database (HGMD)
ARMS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARMS2 Gene

Disorders for ARMS2 Gene

(1) OMIM Diseases for ARMS2 Gene (611313)

UniProtKB/Swiss-Prot

ARMS2_HUMAN
  • 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. {ECO:0000269 PubMed:16174643, ECO:0000269 PubMed:16642439, ECO:0000269 PubMed:16936732, ECO:0000269 PubMed:17000705, ECO:0000269 PubMed:17053108, ECO:0000269 PubMed:17210852, ECO:0000269 PubMed:17675241, ECO:0000269 PubMed:17884985, ECO:0000269 PubMed:18423869, ECO:0000269 PubMed:18436811, ECO:0000269 PubMed:18452766}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for ARMS2

Genetic Association Database (GAD)
ARMS2
Human Genome Epidemiology (HuGE) Navigator
ARMS2
genes like me logo Genes that share disorders with ARMS2: view

Publications for ARMS2 Gene

  1. Hypothetical LOC387715 is a second major susceptibility gene for age- related macular degeneration, contributing independently of complement factor H to disease risk. (PMID: 16174643) Rivera A. … Weber B.H.F. (Hum. Mol. Genet. 2005) 2 3 4 48
  2. Susceptibility genes for age-related maculopathy on chromosome 10q26. (PMID: 16080115) Jakobsdottir J. … Gorin M.B. (Am. J. Hum. Genet. 2005) 2 3 48
  3. CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. (PMID: 18423869) Klein M.L. … Seddon J.M. (Ophthalmology 2008) 3 4 48
  4. Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients. (PMID: 18436811) Kaur I. … Chakrabarti S. (Invest. Ophthalmol. Vis. Sci. 2008) 3 4 48
  5. A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. (PMID: 17884985) Kanda A. … Swaroop A. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 4 48

Products for ARMS2 Gene

Sources for ARMS2 Gene

Back to Top

Content