AOC3

amine oxidase copper containing 3

Basic information

Region (hg38): 17:42851184-42858130

Links

ENSG00000131471

∙ NCBI:8639 ∙ OMIM:603735 ∙ HGNC:550 ∙ Uniprot:Q16853 ∙ 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 AOC3 gene.

not_specified (120 variants)
not_provided (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AOC3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003734.4. 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				3 clinvar	1 clinvar	4
missense			113 clinvar	10 clinvar	4 clinvar	127
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	113	13	5

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AOC3	protein_coding	protein_coding	ENST00000308423	4	6947

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.27e-11	0.632	125526	0	222	125748	0.000883

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.471	426	454	0.938	0.0000278	4933
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00180	0.00176
Ashkenazi Jewish	0.00170	0.00169
East Asian	0.000926	0.000925
Finnish	0.000554	0.000554
European (Non-Finnish)	0.000977	0.000967
Middle Eastern	0.000926	0.000925
South Asian	0.000751	0.000752
Other	0.000982	0.000978

dbNSFP

Source: dbNSFP

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}.;
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);Carnosinuria, carnosinemia;Ureidopropionase deficiency;GABA-Transaminase Deficiency;Beta-Alanine Metabolism;Amino Acid metabolism;Phase I - Functionalization of compounds;Glycine Serine metabolism;Tyrosine metabolism;Biological oxidations;Metabolism;Phenylalanine degradation;Histidine metabolism;Tryptophan metabolism;Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine;Arginine Proline metabolism;phenylethylamine degradation I;Tryptophan degradation;Tyrosine metabolism;spermine and spermidine degradation I;Histidine degradation (Consensus)

Recessive Scores

pRec: 0.202

Intolerance Scores

loftool: 0.930
rvis_EVS: 0.78
rvis_percentile_EVS: 87.26

Haploinsufficiency Scores

pHI: 0.104
hipred: N
hipred_score: 0.216
ghis: 0.494

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.740

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Aoc3
Phenotype: cellular phenotype; hematopoietic system phenotype; immune system phenotype;

Gene ontology

Biological process: xenobiotic metabolic process;inflammatory response;cell adhesion;amine metabolic process;response to antibiotic;oxidation-reduction process;negative regulation of primary amine oxidase activity
Cellular component: cytoplasm;early endosome;endoplasmic reticulum;Golgi apparatus;plasma membrane;microvillus;cell surface;integral component of membrane
Molecular function: copper ion binding;calcium ion binding;protein binding;primary amine oxidase activity;protein homodimerization activity;protein heterodimerization activity;quinone binding;tryptamine:oxygen oxidoreductase (deaminating) activity;aminoacetone:oxygen oxidoreductase(deaminating) activity;aliphatic-amine oxidase activity;phenethylamine:oxygen oxidoreductase (deaminating) activity