ARMS2
Age-related maculopathy susceptibility protein 2
Also known as: ARMD8, ARMS2_HUMAN, LOC387715
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P0C7Q2
- Gene
- ARMS2
- Ensembl
- ENSG00000254636
- Chromosome
- 10
- Canonical length
- 107 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Principal piece,End piece
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
107 residues, UniProt reviewed canonical sequence.
>P0C7Q2|ARMS2
1 MLRLYPGPMV TEAEGKGGPE MASLSSSVVP VSFISTLRES VLDPGVGGEG ASDKQRSKLS
61 LSHSMIPAAK IHTELCLPAF FSPAGTQRRF QQPQHHLTLS IIHTAARLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ARMS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.73
- Highest tissue expression
- 2.7 nTPM
Expression across tissuesHPA
Tissue
- testis: 2.7 nTPM
- placenta: 1.3 nTPM
- salivary gland: 0.8 nTPM
- heart muscle: 0.6 nTPM
- skin: 0.6 nTPM
- ovary: 0.5 nTPM
Single-cell type
- late spermatids: 103 nCPM
- early spermatids: 22 nCPM
- syncytiotrophoblasts: 11 nCPM
- late primary spermatocytes: 7.8 nCPM
- epicardial cells: 6.8 nCPM
- mesothelial cells: 2.6 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 2.9 nTPM
- white matter: 1.8 nTPM
- hypothalamus: 1.2 nTPM
- pons: 1.1 nTPM
- choroid plexus: 1 nTPM
- hippocampal formation: 1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ARMS2.
Disease | AllUniProt
Conditions ARMS2 is implicated in, by any mechanism.
- Macular degeneration, age-related, 8 (ARMD8) MIM:613778
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.94
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.68
- DepMap mean gene effect
- 0.13
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ARMS2 as an antibody target. Whether an autoantibody or antibody against ARMS2 could matter depends on whether native ARMS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ARMS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ARMS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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