ARMS2 (age-related maculopathy susceptibility 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 387715
Gene name Age-related maculopathy susceptibility 2
Gene symbol ARMS2
Synonyms (NCBI Gene)
ARMD8
Chromosome 10
Chromosome location 10q26.13
Summary 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]
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT799436 hsa-miR-23a CLIP-seq
MIRT799437 hsa-miR-23b CLIP-seq
MIRT799438 hsa-miR-23c CLIP-seq
MIRT799439 hsa-miR-4728-3p CLIP-seq
MIRT2176065 hsa-miR-4757-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
GO ID Ontology Definition Evidence Reference
GO:0001895 Process Retina homeostasis IMP 18511946
GO:0001917 Component Photoreceptor inner segment IDA 18511946
GO:0005515 Function Protein binding IPI 19696174, 28086806
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IDA 18511946
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611313 32685 ENSG00000254636
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0C7Q2
Protein name Age-related maculopathy susceptibility protein 2
Family and domains
Tissue specificity TISSUE SPECIFICITY: Detected in retina and placenta. {ECO:0000269|PubMed:17884985}.
Sequence 
MLRLYPGPMVTEAEGKGGPEMASLSSSVVPVSFISTLRESVLDPGVGGEGASDKQRSKLS
LSHSMIPAAKIHTELCLPAFFSPAGTQRRFQQPQHHLTLSIIHTAAR
Sequence length 107
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs2736911 RCV005891763
Age related macular degeneration 8 Benign; risk factor; Likely benign; Uncertain significance rs10490924, rs2133900556, rs7088128, rs79134213, rs2672602, rs2736911, rs4752698, rs2672603, rs10490923, rs886046771, rs536799180, rs578150200, rs886046769, rs186211237, rs778271975
View all (6 more)		 RCV000001030
RCV000001031
RCV001094025
RCV000288564
RCV001094044
RCV000316955
RCV001094026
RCV001094043
RCV001094045
RCV000275891
RCV000342273
RCV000392014
RCV000347960
RCV000386210
RCV001104561
RCV001104562
RCV001104563
RCV001107318
RCV001107319
RCV001107969
RCV001107970
RCV001107971
ARMS2-related disorder Benign rs10490924, rs2736911 RCV003982819
RCV003983000
Cholangiocarcinoma Benign rs2736911 RCV005891765
Show/Hide Text Mining Associations (29)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ablepharon macrostomia syndrome Associate 31970928
Atrophy Associate 32371126
Basal Laminar Drusen Associate 22933840
Central Serous Chorioretinopathy Associate 31815877, 31988359, 32774081
Choroidal Neovascularization Associate 19796758, 21122828, 22481475, 22699975, 24847905, 26171855, 31988359, 35240203
Choroiditis Associate 33900362
Complement Factor H Deficiency Associate 24084496
Corneal Neovascularization Associate 22247473
Diabetic Retinopathy Associate 21067572
Geographic Atrophy Associate 19823576, 20381870, 21122828, 22247473, 22481475, 22699975, 24084496, 25962167, 26918864, 27257685, 32138827, 32371126, 35240203