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Aliases for ARMS2 Gene

Aliases for ARMS2 Gene

  • Age-Related Maculopathy Susceptibility 2 2 3 5
  • ARMD8 3

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 macular degeneration, age-related, 1.

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

Enhancers for ARMS2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ARMS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ARMS2 Gene

Chromosome:
10
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

Genes around ARMS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARMS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families 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

Animal Model Products

CRISPR Products

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

Localization for ARMS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARMS2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARMS2 Gene COMPARTMENTS Subcellular localization image for ARMS2 gene
Compartment Confidence
mitochondrion 5
extracellular 2

Gene Ontology (GO) - Cellular Components for ARMS2 Gene

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

Pathways & Interactions for ARMS2 Gene

SuperPathways for ARMS2 Gene

No Data Available

Interacting Proteins for ARMS2 Gene

Gene Ontology (GO) - Biological Process for ARMS2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ARMS2 Gene

Drugs & Compounds for ARMS2 Gene

(1) Drugs for ARMS2 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bevacizumab Approved, Investigational Pharma VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 1910
genes like me logo Genes that share compounds with ARMS2: view

Transcripts for ARMS2 Gene

mRNA/cDNA for ARMS2 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(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 (x13.6).

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 expression patterns with ARMS2: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
VAR_044330 -
VAR_044331 -

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

Variation tolerance for ARMS2 Gene

Residual Variation Intolerance Score: 63.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.52; 88.82% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(12) MalaCards diseases for ARMS2 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
macular degeneration, age-related, 8
  • age-related macular degeneration 8
macular degeneration, age-related, 1
  • macular degeneration, age-related, 2
eye disease
  • eye diseases
choroiditis
degeneration of macula and posterior pole
  • degeneration of macula and posterior pole of retina
- elite association - COSMIC cancer census association via MalaCards
Search ARMS2 in MalaCards View complete list of genes associated with diseases

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARMS2
genes like me logo Genes that share disorders with ARMS2: view

No data available for Genatlas for ARMS2 Gene

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 67
  2. Susceptibility genes for age-related maculopathy on chromosome 10q26. (PMID: 16080115) Jakobsdottir J. … Gorin M.B. (Am. J. Hum. Genet. 2005) 2 3
  3. Gene Structure of the 10q26 Locus: A Clue to Cracking the ARMS2/HTRA1 Riddle? (PMID: 26427389) Kortvely E. … Ueffing M. (Adv. Exp. Med. Biol. 2016) 3
  4. Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration. (PMID: 25077532) Sohn E.H. … Mullins R.F. (Retina (Philadelphia, Pa.) 2015) 3
  5. Treatment response to antioxidants and zinc based on CFH and ARMS2 genetic risk allele number in the Age-Related Eye Disease Study. (PMID: 25200399) Awh C.C. … Zanke B.W. (Ophthalmology 2015) 3

Products for ARMS2 Gene

Sources for ARMS2 Gene

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