AOC2

amine oxidase copper containing 2

Basic information

Region (hg38): 17:42844580-42850707

Links

ENSG00000131480

∙ NCBI:314 ∙ OMIM:602268 ∙ HGNC:549 ∙ Uniprot:O75106 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AOC2 gene.

not_specified (126 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AOC2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000009590.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar		1 clinvar	2
missense			125 clinvar	6 clinvar	1 clinvar	132
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	126	6	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AOC2	protein_coding	protein_coding	ENST00000253799	4	6108

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.26e-15	0.0385	125178	2	568	125748	0.00227

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.22	505	434	1.16	0.0000254	4850
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00363	0.00362
Ashkenazi Jewish	0.0210	0.0211
East Asian	0.00158	0.00158
Finnish	0.00212	0.00213
European (Non-Finnish)	0.00140	0.00140
Middle Eastern	0.00158	0.00158
South Asian	0.000752	0.000752
Other	0.00245	0.00245

dbNSFP

Source: dbNSFP

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}.;
Pathway: 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;Glycine Serine metabolism;Biological oxidations;Metabolism;Phenylalanine degradation;Arginine Proline metabolism;phenylethylamine degradation I;Tryptophan degradation;Tyrosine metabolism;Histidine degradation (Consensus)

Recessive Scores

pRec: 0.832

Intolerance Scores

loftool: 0.990
rvis_EVS: -0.12
rvis_percentile_EVS: 44.1

Haploinsufficiency Scores

pHI: 0.355
hipred: N
hipred_score: 0.195
ghis: 0.479

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.870

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Aoc2
Phenotype

Gene ontology

Biological process: catecholamine metabolic process;xenobiotic metabolic process;visual perception;amine metabolic process;electron transport chain
Cellular component: cytoplasm;plasma membrane
Molecular function: copper ion binding;primary amine oxidase activity;electron transfer activity;quinone binding;tryptamine:oxygen oxidoreductase (deaminating) activity;aminoacetone:oxygen oxidoreductase(deaminating) activity;aliphatic-amine oxidase activity;phenethylamine:oxygen oxidoreductase (deaminating) activity