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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			62	4	1	67
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	62	4	2

Variants in AOC2

This is a list of pathogenic ClinVar variants found in the AOC2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-42844649-C-T		not specified	Likely benign (Feb 16, 2023)
17-42844773-C-A		not specified	Uncertain significance (Mar 22, 2023)
17-42844794-T-G		not specified	Uncertain significance (Aug 30, 2021)
17-42844808-G-A		not specified	Uncertain significance (Oct 16, 2023)
17-42844822-G-A		not specified	Uncertain significance (Jan 23, 2023)
17-42844831-C-T		not specified	Uncertain significance (Jun 17, 2024)
17-42844999-C-G		not specified	Uncertain significance (Mar 17, 2023)
17-42845048-C-T			Benign (Apr 04, 2018)
17-42845074-G-A		not specified	Uncertain significance (Feb 21, 2024)
17-42845084-T-G		not specified	Uncertain significance (Sep 14, 2022)
17-42845090-G-A		not specified	Uncertain significance (Dec 16, 2022)
17-42845098-G-A		not specified	Uncertain significance (Jun 05, 2023)
17-42845117-G-A		not specified	Uncertain significance (Jan 16, 2024)
17-42845192-T-G		not specified	Uncertain significance (Dec 14, 2021)
17-42845218-A-G		not specified	Uncertain significance (Dec 02, 2022)
17-42845272-G-A		not specified	Uncertain significance (Jan 08, 2024)
17-42845289-G-T		not specified	Likely benign (Sep 26, 2023)
17-42845300-A-G		not specified	Uncertain significance (Apr 13, 2022)
17-42845335-G-A		not specified	Uncertain significance (Oct 13, 2021)
17-42845360-A-G		not specified	Uncertain significance (Jun 08, 2022)
17-42845389-G-C		not specified	Uncertain significance (Aug 15, 2023)
17-42845395-C-G		not specified	Uncertain significance (Aug 03, 2022)
17-42845398-G-A		not specified	Uncertain significance (Jan 10, 2022)
17-42845443-C-T		not specified	Likely benign (Oct 03, 2022)
17-42845462-G-A		not specified	Uncertain significance (Nov 06, 2023)

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

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