ARMS2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ARMS2 |
| Official Name | age-related maculopathy susceptibility 2 [Source:HGNC Symbol;Acc:HGNC:32685] |
| Ensembl ID | ENSG00000254636 |
| Bio databases IDs | |
| Aliases | age-related maculopathy susceptibility 2 |
| Synonyms | age-related maculopathy susceptibility 2, ARMD8 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ARMS2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pain
- age-related macular degeneration
- macular degeneration
- exudative age-related macular degeneration
- refractive error
- retinopathy
- visual disturbance
- carpal tunnel syndrome
- idiopathic polypoidal choroidal vasculopathy
- susceptibility to age-related macular degeneration type 8
role in cell
- proliferation
- migration
- attachment
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- photoreceptor inner segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARMS2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retina homeostasis
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- photoreceptor inner segment
Molecular Function
What the gene product does at the molecular level
- protein binding