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.
5
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (16)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Age related macular degeneration 8 Benign; risk factor; Likely benign; Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARMS2-related disorder Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (41)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ablepharon macrostomia syndrome Ablepharon macrostomia syndrome Pubtator 31970928 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration LHGDN 16174643, 17194541, 17285240, 17325155, 17347568, 17675241, 17692272, 17884985, 18079691, 18162041, 18511946, 18682812, 18855541, 19065273
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GWASDB_DG 17053108, 20385826, 20861866, 21665990, 21909106, 22694956, 22705344, 23326517, 23455636, 23577725
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 17884985, 17911160, 18164066, 18423869, 18493315, 18511946, 18535016, 18682806, 19015224, 19065273, 19169232, 19202148, 19255159, 19259132, 19268887
View all (149 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration CTD_human_DG 17884985, 18511946, 21909106
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GWASCAT_DG 20385826, 20861866, 21665990, 22694956, 23455636, 23577725, 26691988, 28703135
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration GENOMICS_ENGLAND_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 32371126 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
BASAL LAMINAR DRUSEN (disorder) Basal Laminar Drusen BEFREE 22933840
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 22487577, 29891972
★★★★★
★☆☆☆☆
Found in Text Mining only