AOC2 (amine oxidase copper containing 2)

Gene

• Entrez ID: 314
• Gene name: Amine oxidase copper containing 2
• Gene symbol: AOC2
• Synonyms (NCBI Gene): DAO2, RAO, SSAO
• Chromosome: 17
• Chromosome location: 17q21.31
• 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 mamm

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052452	hsa-let-7a-5p	CLASH	23622248
MIRT2675079	hsa-miR-3125	CLIP-seq
MIRT2675080	hsa-miR-3184	CLIP-seq
MIRT2675081	hsa-miR-3916	CLIP-seq
MIRT2675082	hsa-miR-3928	CLIP-seq
MIRT2675083	hsa-miR-423-5p	CLIP-seq
MIRT2675084	hsa-miR-4651	CLIP-seq
MIRT2675085	hsa-miR-608	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005507	Function	Copper ion binding	IBA
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IDA	19588076
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19588076
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006584	Process	Catecholamine metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0007601	Process	Visual perception	TAS	9119395
GO:0008131	Function	Primary methylamine oxidase activity	IBA
GO:0008131	Function	Primary methylamine oxidase activity	IDA	19588076
GO:0008131	Function	Primary methylamine oxidase activity	IEA
GO:0008131	Function	Primary methylamine oxidase activity	TAS
GO:0009055	Function	Electron transfer activity	TAS	9119395
GO:0009308	Process	Amine metabolic process	IBA
GO:0009308	Process	Amine metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048038	Function	Quinone binding	IEA

Other IDs

• MIM: 602268
• HGNC: 549
• e!Ensembl: ENSG00000131480

Protein

• UniProt ID: O75106
• Protein name: Amine oxidase [copper-containing] 2 (EC 1.4.3.21) (Amine oxidase copper-containing 2) (Retina-specific copper amine oxidase) (RAO) (Semicarbazide-sensitive amine oxidase) (SSAO)
• Protein function: Catalyzes the oxidative deamination of primary amines to the corresponding aldehydes with the concomitant production of hydrogen peroxide and ammonia (PubMed:19588076). Has a preference for 2-phenylethylamine, tryptamine and tyramine (PubMed:195
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02727	Cu_amine_oxidN2	62 → 148	Copper amine oxidase, N2 domain	Domain
  PF02728	Cu_amine_oxidN3	165 → 263	Copper amine oxidase, N3 domain	Domain
  PF01179	Cu_amine_oxid	308 → 717	Copper amine oxidase, enzyme domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in many tissues including adipocytes with higher expression in retina where it is active. {ECO:0000269|PubMed:12755418, ECO:0000269|PubMed:17400359, ECO:0000269|PubMed:19588076}.; TISSUE SPECIFICITY: [Isoform 1]: Not expresse
• Sequence:

  MHLKIVLAFLALSLITIFALAYVLLTSPGGSSQPPHCPSVSHRAQPWPHPGQSQLFADLS
  REELTAVMRFLTQRLGPGLVDAAQAQPSDNCIFSVELQLPPKAAALAHLDRGSPPPAREA
  LAIVLFGGQPQPNVSELVVGPLPHPSYMRDVTVERHGGPLPYHRRPVLRAEFTQMWRHLK
  EVELPKAPIFLSSTFNYNGSTLAAVHATPRGLRSGDRATWMALYHNISGVGLFLHPVGLE
  LLLDHRALDPAHWTVQQVFYLGHYYADLGQLEREFKSGRLEVVRVPLPPPNGASSLRSRN
  SPGPLPPLQFSPQGSQYSVQGNLVVSSLWSFTFGHGVFSGLRIFDVRFQGERIAYEVSVQ
  ECVSIYGADSPKTMLTRYLDSSFGLGRNSRGLVRGVDCPYQATMVDIHILVGKGAVQLLP
  GAVCVFEEAQGLPLRRHHNYLQNHFYGGLASSALVVRSVSSVGNYDYIWDFVLYPNGALE
  GRVHATGYINTAFLKGGEEGLLFGNRVGERVLGTVHTHAFHFKLDLDVAGLKNWVVAEDV
  VFKPVAAPWNPEHWLQRPQLTRQVLGKEDLTAFSLGSPLPRYLYLASNQTNAWGHQRGYR
  IQIHSPLGIHIPLESDMERALSWGRYQLVVTQRKEEESQSSSIYHQNDIWTPTVTFADFI
  NNETLLGEDLVAWVTASFLHIPHAEDIPNTVTLGNRVGFLLRPYNFFDEDPSIFSPGSVY
  FEKGQDAGLCSINPVACLPDLAACVPDLPPFSYHGF

• Sequence length: 756

Pathways

KEGG:

Glycine, serine and threonine metabolism
Tyrosine metabolism
Phenylalanine metabolism
beta-Alanine metabolism
Metabolic pathways

Reactome:

Phase I - Functionalization of compounds

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alzheimer Disease	Stimulate	17074066	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Associate	17074066	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	32953885	★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Associate	15830186	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Stimulate	15830186	★☆☆☆☆ Found in Text Mining only
Dilatation Pathologic	Inhibit	15505340	★☆☆☆☆ Found in Text Mining only
Hypertension	Stimulate	15830186	★☆☆☆☆ Found in Text Mining only