AOC3
protein-codingamine oxidase copper containing 3
Gene summary
This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~6.9 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 AOC3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_003734.4. 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 | 4 | 1 | 5 | |||
| missense | 130 | 14 | 4 | 148 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 130 | 18 | 5 | 153 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_003725.1 | 4 | MANE Select | |
| Ensembl | ENSP00000312326.1 | 4 | MANE Select | |
| RefSeq | NP_001264660.1 | 3 | Standard | |
| RefSeq | NP_001264661.1 | 3 | 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)
- Carnosinuria, carnosinemia
Biological Process
- xenobiotic metabolic process
- inflammatory response
- cell adhesion
- amine metabolic process
- response to antibiotic
Molecular Function
- copper ion binding
- calcium ion binding
- protein binding
- primary amine oxidase activity
- protein homodimerization activity
Cellular Component
- cytoplasm
- early endosome
- endoplasmic reticulum
- Golgi apparatus
- plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000308423
- Coding exons
- 4
- Length
- 6947
- Individuals with no LoFs
- 125526
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 222
- Defined
- 125748
- p
- 0.000883
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.471 | 426 | 454 | 0.938 | 0.0000278 | 4933 |
| Missense (PolyPhen) | 226 | 251.75 | 0.89773 | 2940 | ||
| Synonymous | -1.87 | 226 | 193 | 1.17 | 0.0000119 | 1619 |
| Loss of Function | 1.42 | 20 | 28.1 | 0.710 | 0.00000182 | 262 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0013 | 0.0013 | notable |
| Latino/Admixed American | 0.00046 | 0.00046 | rare |
| Ashkenazi Jewish | 0.0017 | 0.0017 | notable |
| East Asian | 0.00093 | 0.00092 | rare |
| Finnish | 0.00055 | 0.00055 | rare |
| European (Non-Finnish) | 0.00098 | 0.00097 | rare |
| South Asian | 0.00075 | 0.00075 | rare |
| Other | 0.00098 | 0.00098 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Cell adhesion protein that participates in lymphocyte extravasation and recirculation by mediating the binding of lymphocytes to peripheral lymph node vascular endothelial cells in an L-selectin-independent fashion. Has semicarbazide-sensitive (SSAO) monoamine oxidase activity. May play a role in adipogenesis. {ECO:0000269|PubMed:17400359, ECO:0000269|PubMed:19588076, ECO:0000269|PubMed:23349812, ECO:0000269|PubMed:9653080}.;
Recessive Scores
- pRec
- 0.202
Intolerance Scores
- LoFtool
- 0.930
- RVIS EVS
- 0.78
- RVIS percentile EVS
- 87.26
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.740
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |