AOC2: Amine Oxidase, Copper Containing 2
A copper-dependent amine oxidase involved in polyamine metabolism and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | AOC2 |
|---|---|
| Full Name | Amine Oxidase, Copper Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 314 ncbi.nlm.nih.gov/gene/314 |
| Ensembl ID | ENSG00000131473 |
| UniProt ID | O75106 |
| OMIM ID | 602735 |
| HGNC ID | 548 |
| Aliases | DAO, DAO1, retina-specific amine oxidase |
Description
AOC2 encodes a copper-containing amine oxidase that catalyzes the oxidative deamination of biogenic amines, including histamine and polyamines. The enzyme is primarily expressed in the retina and kidney, and plays a role in polyamine metabolism. Variants in AOC2 have been associated with susceptibility to diabetic nephropathy and may influence cancer progression through modulation of polyamine levels.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetic nephropathy | Altered polyamine metabolism due to AOC2 variants may contribute to renal damage in diabetes. | PMID: 15118671 |
| Retinal degeneration | AOC2 expression in retina suggests a role in retinal amine metabolism; dysfunction may contribute to age-related macular degeneration. | PMID: 10610709 |
| Cancer (general) | Polyamine metabolism dysregulation via AOC2 may influence tumor growth and metastasis. | PMID: 23504663 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Retina | 8.3 | Medium |
| Liver | 2.1 | Low |
| Lung | 1.8 | Low |
| Brain | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.2 | Moderate expression |
| HeLa | 3.1 | Low expression |
| HepG2 | 1.5 | Very low expression |
| ARPE-19 | 7.8 | Retinal pigment epithelium; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | Rare (MAF <0.01) | May alter substrate specificity; associated with diabetic nephropathy risk |
| c.1462G>A (p.Glu488Lys) | Missense | Rare (MAF <0.01) | Potential loss of function; reported in ClinVar |
| c.1789C>T (p.Arg597*) | Nonsense | Very rare | Premature stop; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and some missense variants (e.g., p.Arg597*) reduce or abolish enzymatic activity, impairing polyamine catabolism.
Gain of Function (GOF)
No documented gain-of-function mutations for AOC2.
Dominant Negative (DN)
No evidence of dominant-negative effects for AOC2 mutations.
View complete mutation data：
Gene Ontology (GO)
| • primary amine oxidase activity (GO:0008131) | • amine metabolic process (GO:0009308) |
| • oxidoreductase activity (GO:0016491) | • copper ion binding (GO:0005507) |
| • cytoplasm (GO:0005737) |
Pathways
• Polyamine metabolism (Reactome: R-HSA-351202)
• Histamine degradation (Reactome: R-HSA-2142753)
Protein Summary
AOC2 is a copper-dependent amine oxidase that catalyzes the oxidative deamination of primary amines, including histamine and polyamines, producing corresponding aldehydes, ammonia, and hydrogen peroxide. The enzyme is a homodimer with each subunit containing a copper ion and a topaquinone cofactor. It is highly expressed in the kidney and retina, where it regulates local polyamine levels. Dysregulation of AOC2 activity has been implicated in diabetic nephropathy and retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AOC2 Knockout HEK293 Cell Line | EDJ-KQ4060 | Human | 314 | Details Get a Quote |
| AOC2 Knockout A-549 Cell Line | EDJ-KQ25085 | Human | 314 | Details Get a Quote |
| AOC2 Knockout HCT 116 Cell Line | EDJ-KQ26425 | Human | 314 | Details Get a Quote |
| AOC2 Knockout HeLa Cell Line | EDJ-KQ52623 | Human | 314 | Details Get a Quote |
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