Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	314
Gene name	Amine oxidase copper containing 2
Gene symbol	AOC2
Synonyms (NCBI Gene)	DAO2RAOSSAO
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

Show/Hide all (8)

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

Show/Hide all (23)

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

MIM	HGNC	e!Ensembl
602268	549	ENSG00000131480

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

Interactions

View interactions

	KEGG		Reactome
	Glycine, serine and threonine metabolism Tyrosine metabolism Phenylalanine metabolism beta-Alanine metabolism Metabolic pathways		Phase I - Functionalization of compounds

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)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
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

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult type dermatomyositis	Dermatomyositis	BEFREE	14755492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	17074066	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16487546, 29653075, 29915377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28067251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16487546, 29653075, 29915377		★★★★★ ★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	25457560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30008905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30008905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28761331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	25457560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	17074066	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	25342050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32953885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29653075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	14755492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12686114, 15541390, 15830186, 16487546, 18413170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	15830186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12686114, 15541390, 15830186, 16487546, 18413170, 31182088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	15830186	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15830186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12686114, 15830186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	28437839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	15830186	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15830186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	14755492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28570629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30008905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	21428797		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	14755492		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	BEFREE	14755492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	12686114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	28937866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	21819380, 25457560		★★★★★ ★☆☆☆☆ Found in Text Mining only

AOC2 (amine oxidase copper containing 2)