ARMS2 - age-related maculopathy susceptibility 2 Gene
Also Known as ARMD8
Species: Homo sapiens
About ARMS2
This gene has 1 transcript (splice variant), 9 orthologues and is associated with 2 phenotypes. Biased expression in testis (RPKM 1.0), placenta (RPKM 1.0) and 6 other tissues.
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]
ARMS2 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001099667.3 | NP_001093137.1 | age-related maculopathy susceptibility protein 2 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
19696174 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in retina homeostasis |
IMP
IMP: Inferred from mutant phenotype
|
18511946 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
18511946 | GOA |
| located in photoreceptor inner segment |
IDA
IDA: Inferred from direct assay
|
18511946 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
age-related maculopathy susceptibility protein 2 |
|
ARMS2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
ARMS2 | P0C7Q2 | HMCN1 | Homo sapiens | Q96RW7 | 19696174 | |
|
Intra
|
ARMS2 | P0C7Q2 | HMCN1 | Homo sapiens | Q96RW7 | 19696174 | |
|
Intra
|
ARMS2 | P0C7Q2 | CFP | Homo sapiens | P27918 | 28086806 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Macular Degeneration, Age-Related, 8 |
|
|
| Retinal Drusen |
|
|
| Central Serous Chorioretinopathy |
|
|
| Choroiditis |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Kuhnt-Junius Degeneration |
|
|
| Histoplasmosis |
|
|
| Basal Laminar Drusen |
|
|
| Eye Disease |
|
|
| Degeneration Of Macula And Posterior Pole |
|
|
| Retinal Detachment |
|
|
| Sorsby Fundus Dystrophy |
|
|
| Eye Degenerative Disease |
|
|
| Angioid Streaks |
|
|
| Toxic Maculopathy |
|
|
| Degenerative Myopia |
|
|
| Doyne Honeycomb Retinal Dystrophy |
|
|
| Ocular Hyperemia |
|
|
| Retinal Disease |
|
|
| Complement Component 2 Deficiency |
|
|
| Vitelliform Macular Dystrophy |
|
|
| Lens Disease |
|
|
| Refractive Error |
|
|
| Retinitis Pigmentosa |
|
|
| Stargardt Disease |
|
|
| Sensory System Disease |
|
|
| Fundus Dystrophy |
|
|
| Nervous System Disease |
|
|
| Cone-Rod Dystrophy 2 |
|
|