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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AOC2
amine oxidase copper containing 2
Chromosome 17 · 17q21.31
NCBI Gene: 314Ensembl: ENSG00000131480.9HGNC: HGNC:549UniProt: O75106
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcopper ion bindingprimary methylamine oxidase activityamine metabolic processbreast cancerendometrial cancerattention deficit hyperactivity disorderatherosclerosis
✦AI Summary

AOC2 (amine oxidase copper containing 2) is a copper-dependent enzyme that catalyzes oxidative deamination of primary amines to aldehydes, producing hydrogen peroxide and ammonia 1. Unlike related family members, AOC2 preferentially metabolizes larger monoamines including 2-phenylethylamine, tryptamine, and tyramine, with much lower efficiency toward methylamine and benzylamine 1. The enzyme is primarily expressed in retinal tissue, particularly in retinal ganglion cells, despite mRNA detection in multiple tissues 21. AOC2 belongs to the semicarbazide-sensitive amine oxidase (SSAO) family and shares structural conservation with related AOC family members, with specific active site residues (particularly a glycine at position X2) distinguishing it functionally from AOC1 and AOC3/4 subfamilies 34. Emerging evidence suggests AOC2 involvement in disease pathogenesis: it was identified as a cuproptosis-related hub gene in silicosis-associated immune dysregulation 5, included in metabolic dysregulation pathways in HIV-1-infected macrophages 6, and incorporated into prognostic models for colorectal cancer through regulatory T cell-related gene signatures 7. The true physiological function and disease mechanisms remain incompletely understood.

Sources cited
1
AOC2 catalyzes oxidative deamination of primary amines to aldehydes with H2O2 and ammonia production; prefers 2-phenylethylamine, tryptamine, and tyramine over methylamine and benzylamine
PMID: 19588076
2
AOC2 is retina-specific amine oxidase gene located on chromosome 17q21; mRNA expression preferentially in retinal ganglion cell layer
PMID: 9722954
3
AOC2 mRNA expressed in many tissues but detectable enzyme activity only in eye tissue
PMID: 19588076
4
AOC2 active site contains glycine at X2 position distinguishing it from other AOC subfamilies; residues determine substrate specificity
PMID: 31351182
5
AOC2 is one of four mammalian copper amine oxidase genes; evolved before plant-animal divergence
PMID: 40343124
6
AOC2 identified as cuproptosis-associated hub gene in silicosis with immune cell infiltration modulation
PMID: 38403151
7
AOC2 expression altered in HIV-1-infected macrophages with dysregulated amino acid and glycine/serine/threonine metabolism
PMID: 40183936
8
AOC2 included as Treg-related key gene in colorectal cancer prognostic riskscore model
PMID: 38342959
Disease Associationsⓘ20
breast cancerOpen Targets
0.06Suggestive
endometrial cancerOpen Targets
0.04Suggestive
attention deficit hyperactivity disorderOpen Targets
0.04Suggestive
atherosclerosisOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
retinopathyOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
HypercholesterolemiaOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
sialolithiasisOpen Targets
0.02Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.02Suggestive
type 1 diabetes mellitusOpen Targets
0.02Suggestive
cerebral amyloid angiopathyOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
sialadenitisOpen Targets
0.02Suggestive
diabetic nephropathyOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
renal fibrosisOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
coronary artery diseaseOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MAOAProtein interaction98%MAOBProtein interaction98%ALDH2Protein interaction97%AOC3Protein interaction94%ALDH1B1Protein interaction93%ALDH3A1Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Lung
78%
Bone Marrow
36%
Ovary
34%
Brain
30%
Heart
10%
Gene Interaction Network
Click a node to explore
AOC2MAOAMAOBALDH2AOC3ALDH1B1ALDH3A1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O75106
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.29LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.05 [0.85–1.29]
RankingsWhere AOC2 stands among ~20K protein-coding genes
  • #15,201of 20,598
    Most Researched16
  • #13,607of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedAOC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human retina-specific amine oxidase: genomic structure of the gene (AOC2), alternatively spliced variant, and mRNA expression in retina.
PMID: 9722954
Genomics · 1998
1.00
2
The unique substrate specificity of human AOC2, a semicarbazide-sensitive amine oxidase.
PMID: 19588076
Cell Mol Life Sci · 2009
0.90
3
Characterization of AOC2 gene encoding a copper-binding amine oxidase expressed specifically in retina.
PMID: 14585497
Gene · 2003
0.80
4
Cuproptosis-associated hub gene identification and immune cell infiltration patterns in silicosis.
PMID: 38403151
Toxicology · 2024
0.70
5
Evolution and functional classification of mammalian copper amine oxidases.
PMID: 31351182
Mol Phylogenet Evol · 2019
0.60