This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017] See more...

Aliases for ARMS2 Gene

Aliases for ARMS2 Gene

  • Age-Related Maculopathy Susceptibility 2 2 3 5
  • Age-Related Maculopathy Susceptibility Protein 2 3 4
  • 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 small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017]

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 Choroiditis.

Gene Wiki entry for ARMS2 Gene

Additional gene information for ARMS2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARMS2 Gene

Genomics for ARMS2 Gene

GeneHancer (GH) Regulatory Elements for ARMS2 Gene

Promoters and enhancers for ARMS2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J122454 Promoter 0.3 EPDnew 750.6 0.0 -9 0.1 ARMS2 ENSG00000285955 LOC105378525 piR-48389-003
GH10J122460 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 21.6 +8.1 8085 3.9 POLR2A GLIS2 ZFX MAX EZH2 TFDP1 YY1 SIN3A ENSG00000285955 HTRA1 LOC105378525 ARMS2 piR-34822-049
GH10J122372 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 13.2 -79.5 -79547 5 SIN3A SIX5 ZBTB6 POLR2A NR2F1 NR2F6 HCFC1 MYC ETV6 ELF1 PLEKHA1 NONHSAG007075.2-001 lnc-C10orf120-1 BUB3 ARMS2
GH10J122466 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 20.2 +13.9 13903 4.2 MAFK SP7 PRDM1 FOSL2 CREB1 POLR2A ZNF639 ZEB2 CEBPB JUN ARMS2 TACC2 ENSG00000285955 piR-34822-049 HTRA1
GH10J122450 Enhancer 0.8 Ensembl ENCODE dbSUPER 23.9 -4.2 -4150 1.8 SP1 ZBTB33 GATA3 REST ATF3 MAX ARMS2 BTBD16 piR-48389-003 LOC105378525 ENSG00000285955
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARMS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARMS2 gene promoter:
  • aMEF-2
  • CREB
  • deltaCREB
  • E47
  • MEF-2A
  • N-Myc
  • NF-1
  • NF-1/L
  • Pax-5

Genomic Locations for ARMS2 Gene

Genomic Locations for ARMS2 Gene
2,700 bases
Plus strand
2,700 bases
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:
    Recommended name:
    Age-related maculopathy susceptibility protein 2
    Protein Accession:
    Secondary Accessions:
    • B2Y7I5

    Protein attributes for ARMS2 Gene

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

neXtProt entry for ARMS2 Gene

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

Gene Families for ARMS2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ARMS2 Gene


Suggested Antigen Peptide Sequences for ARMS2 Gene

GenScript: Design optimal peptide antigens:
  • Age-related maculopathy susceptibility protein 2 (ARMS2_HUMAN)
  • Age-related maculopathy susceptibility 2 (B2Y7I6_HUMAN)
genes like me logo Genes that share domains with ARMS2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARMS2 Gene

Function for ARMS2 Gene

Phenotypes From GWAS Catalog for ARMS2 Gene

Animal Model Products

CRISPR Products

Clone 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


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARMS2 gene
Compartment Confidence
mitochondrion 4
extracellular 1

Gene Ontology (GO) - Cellular Components for ARMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IDA 18511946
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA 18511946
genes like me logo Genes that share ontologies with ARMS2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARMS2 Gene

Pathways & Interactions for ARMS2 Gene

PathCards logo

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 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 2286
genes like me logo Genes that share compounds with ARMS2: view

Transcripts for ARMS2 Gene

mRNA/cDNA for ARMS2 Gene

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

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for ARMS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ARMS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARMS2 Gene

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

This gene is overexpressed in Testis (x13.6).

NURSA nuclear receptor signaling pathways regulating expression of ARMS2 Gene:


SOURCE GeneReport for Unigene cluster for ARMS2 Gene:


mRNA Expression by UniProt/SwissProt for ARMS2 Gene:

Tissue specificity: Detected in retina and placenta.

Evidence on tissue expression from TISSUES for ARMS2 Gene

  • Eye(4.5)
genes like me logo Genes that share expression patterns with ARMS2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia ARMS2 33 32
  • 99.37 (n)
Species where no ortholog for ARMS2 was found in the sources mined by GeneCards:
  • 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

Gene Tree for ARMS2 (if available)
Gene Tree for ARMS2 (if available)
Evolutionary constrained regions (ECRs) for ARMS2: view image

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 Variation AA Info Type
rs10490923 likely-benign, Macular degeneration, - 122,454,735(+) G/A coding_sequence_variant, missense_variant
rs10490924 risk-factor, not-provided, likely-benign, Age-related macular degeneration 8, not provided, Macular degeneration, - 122,454,932(+) G/T coding_sequence_variant, missense_variant
rs2672602 likely-benign, Macular degeneration 122,457,309(+) T/C 3_prime_UTR_variant
rs2672603 likely-benign, Macular degeneration 122,457,318(+) A/C 3_prime_UTR_variant
rs2736911 likely-benign, Macular degeneration 122,454,839(+) C/A/T coding_sequence_variant, stop_gained, synonymous_variant

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

Variant ID Type Subtype PubMed ID
dgv1409n54 CNV loss 21841781
esv2663177 CNV deletion 23128226
esv28769 CNV loss 19812545
esv3546969 CNV deletion 23714750
esv3624772 CNV loss 21293372
esv9290 CNV loss 19470904
nsv1118189 CNV deletion 24896259
nsv552253 CNV loss 21841781
nsv552254 CNV loss 21841781
nsv7580 CNV deletion 18451855
nsv825594 CNV gain 20364138
nsv955802 CNV deletion 24416366

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)

Additional Variant Information for ARMS2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for ARMS2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for ARMS2 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
macular degeneration, age-related, 8
  • armd8
multifocal choroiditis
retinal drusen
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


  • 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.

Additional Disease Information for ARMS2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 BH (Human molecular genetics 2005) 2 3 4 43 56
  2. Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria. (PMID: 19255159) Wang G … Pericak-Vance MA (Investigative ophthalmology & visual science 2009) 3 4 43 56
  3. CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. (PMID: 18423869) Klein ML … Seddon JM (Ophthalmology 2008) 3 4 43 56
  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 (Investigative ophthalmology & visual science 2008) 3 4 43 56
  5. A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. (PMID: 17884985) Kanda A … Swaroop A (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 43 56

Products for ARMS2 Gene

Sources for ARMS2 Gene