ARMS2 (age-related maculopathy susceptibility 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
387715
Gene name Gene Name - the full gene name approved by the HGNC.
Age-related maculopathy susceptibility 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARMS2
Synonyms (NCBI Gene) Gene synonyms aliases
ARMD8
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ARMD8
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.13
Summary Summary of gene provided in NCBI Entrez 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]
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
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:0005739 Component Mitochondrion IDA 18511946
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611313 32685 ENSG00000254636
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Age-related macular degeneration MACULAR DEGENERATION, AGE-RELATED, 8, Age related macular degeneration, NON RARE IN EUROPE: Age-related macular degeneration rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152
View all (20 more)		 17884985, 22705344, 28703135, 23455636, 21665990, 21909106, 22694956, 18511946, 23577725, 23326517, 26691988, 20861866, 20385826, 17053108
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Exudative Macular Degeneration Exudative Macular Degeneration GWAS
Macular Degeneration Macular Degeneration GWAS
Carpal Tunnel Syndrome Carpal Tunnel Syndrome GWAS
Show/Hide Text Mining Associations (29)
Associations from Text Mining
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