AOC2
protein-codingamine oxidase copper containing 2
Gene summary
Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~6.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to AOC2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_009590.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | 2 | |||
| missense | 143 | 6 | 1 | 150 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 144 | 6 | 2 | 152 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_033720.2 | 4 | MANE Select | |
| Ensembl | ENSP00000253799.2 | 4 | MANE Select | |
| RefSeq | NP_001149.2 | 4 | Standard | |
| Ensembl | ENSP00000406134.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- beta-Alanine metabolism - Homo sapiens (human)
- Phenylalanine metabolism - Homo sapiens (human)
- Glycine, serine and threonine metabolism - Homo sapiens (human)
- Tyrosine metabolism - Homo sapiens (human)
- Phase I - Functionalization of compounds
Biological Process
- catecholamine metabolic process
- xenobiotic metabolic process
- visual perception
- amine metabolic process
- electron transport chain
Molecular Function
- copper ion binding
- primary amine oxidase activity
- electron transfer activity
- quinone binding
- tryptamine:oxygen oxidoreductase (deaminating) activity
Cellular Component
- cytoplasm
- plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000253799
- Coding exons
- 4
- Length
- 6108
- Individuals with no LoFs
- 125178
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 568
- Defined
- 125748
- p
- 0.00227
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -1.22 | 505 | 434 | 1.16 | 0.0000254 | 4850 |
| Missense (PolyPhen) | 132 | 121.39 | 1.0874 | 1403 | ||
| Synonymous | -0.826 | 199 | 185 | 1.08 | 0.0000103 | 1655 |
| Loss of Function | 0.517 | 24 | 26.9 | 0.892 | 0.00000179 | 263 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0020 | 0.0020 | notable |
| Latino/Admixed American | 0.0016 | 0.0016 | notable |
| Ashkenazi Jewish | 0.021 | 0.021 | notable |
| East Asian | 0.0016 | 0.0016 | notable |
| Finnish | 0.0021 | 0.0021 | notable |
| European (Non-Finnish) | 0.0014 | 0.0014 | notable |
| South Asian | 0.00075 | 0.00075 | rare |
| Other | 0.0024 | 0.0024 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Has a monoamine oxidase activity with substrate specificity for 2-phenylethylamine and tryptamine. May play a role in adipogenesis. May be a critical modulator of signal transmission in retina. {ECO:0000269|PubMed:17400359, ECO:0000269|PubMed:19588076}.;
Recessive Scores
- pRec
- 0.832
Intolerance Scores
- LoFtool
- 0.990
- RVIS EVS
- -0.12
- RVIS percentile EVS
- 44.1
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.870
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |