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 mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues tha... See more...

Aliases for AOC2 Gene

Aliases for AOC2 Gene

  • Amine Oxidase Copper Containing 2 2 3 5
  • RAO 2 3 4
  • Amine Oxidase, Copper Containing 2 (Retina-Specific) 2 3
  • Semicarbazide-Sensitive Amine Oxidase 3 4
  • Retina-Specific Copper Amine Oxidase 3 4
  • DAO2 2 3
  • SSAO 3 4
  • Amine Oxidase [Copper-Containing] 4
  • EC 1.4.3.21 4
  • EC 1.4.3 51
  • AOC2 5

External Ids for AOC2 Gene

Previous GeneCards Identifiers for AOC2 Gene

  • GC17M040628
  • GC17P043158
  • GC17P040905
  • GC17P041369
  • GC17P038250
  • GC17P040996
  • GC17P036761

Summaries for AOC2 Gene

Entrez Gene Summary for AOC2 Gene

  • 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 mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for AOC2 Gene

AOC2 (Amine Oxidase Copper Containing 2) is a Protein Coding gene. Diseases associated with AOC2 include Median Neuropathy and Retinitis Pigmentosa. Among its related pathways are Tyrosine metabolism and beta-Alanine metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include electron transfer activity and quinone binding. An important paralog of this gene is AOC3.

UniProtKB/Swiss-Prot Summary for AOC2 Gene

  • 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.

Additional gene information for AOC2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AOC2 Gene

Genomics for AOC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AOC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J042843 Enhancer 0.9 ENCODE dbSUPER 600.7 -1.0 -1041 0.2 GATAD2A CTCF TFE3 IKZF1 RCOR2 RXRB REST RAD21 IRF2 POLR2A AOC2 BECN1 PSME3
GH17J042844 Promoter/Enhancer 0.6 EPDnew dbSUPER 600.7 0.0 -19 0.1 POLR2A AOC2 BECN1
GH17J042845 Enhancer 0.4 Ensembl dbSUPER 600.7 +0.9 921 0.2 POLR2A AOC2 AOC3
GH17J042822 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.8 -20.7 -20680 2.2 CREB1 GATAD2A CTCF ZNF629 TFE3 POLR2A RCOR2 BACH1 ETV6 JUND LOC107985007 PSME3 MIR6781 lnc-COA3-4 lnc-PSME3-1 BECN1 CNTD1 COA3 AOC2 AOC3
GH17J042802 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 11 -39.6 -39587 4.4 GATAD2A NFKBIZ RCOR2 FOXA1 ZIC2 RXRB SP1 CEBPA SOX13 RFX3 CNTD1 WNK4 VPS25 RAMP2-AS1 RAMP2 HMGN2P15 EZH1 AOC2 AOC3 PSMC3IP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AOC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AOC2

Top Transcription factor binding sites by QIAGEN in the AOC2 gene promoter:
  • AP-1
  • ATF-2
  • GATA-1
  • NF-kappaB1
  • p53

Genomic Locations for AOC2 Gene

Genomic Locations for AOC2 Gene
chr17:42,844,580-42,850,707
(GRCh38/hg38)
Size:
6,128 bases
Orientation:
Plus strand
chr17:40,996,609-41,002,724
(GRCh37/hg19)
Size:
6,116 bases
Orientation:
Plus strand

Genomic View for AOC2 Gene

Genes around AOC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AOC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AOC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AOC2 Gene

Proteins for AOC2 Gene

  • Protein details for AOC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75106-AOC2_HUMAN
    Recommended name:
    Retina-specific copper amine oxidase
    Protein Accession:
    O75106
    Secondary Accessions:
    • A5PKW2
    • O00120
    • O75105
    • Q4TTW5
    • Q9UNY0

    Protein attributes for AOC2 Gene

    Size:
    756 amino acids
    Molecular mass:
    83673 Da
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=L-topaquinone; Xref=ChEBI:CHEBI:79027;
    Quaternary structure:
    • Homodimer; disulfide-linked (By similarity). Forms a heterodimer with AOC3, in vitro.

    Alternative splice isoforms for AOC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AOC2 Gene

Selected DME Specific Peptides for AOC2 Gene

O75106:
  • FSVELQLP
  • SWGRYQL
  • EELTAVM
  • NYDYIWD
  • PPPAREALAI
  • ELVVGPLP
  • FLHIPHAEDIPNTVT
  • LHPVGLELL
  • PRYLYLA
  • DLVAWVT

Post-translational modifications for AOC2 Gene

  • Topaquinone (TPQ) is generated by copper-dependent autoxidation of a specific tyrosyl residue.
  • Glycosylation at Asn133, Asn198, Asn226, Asn588, and Asn662
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for AOC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AOC2 Gene

Gene Families for AOC2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for AOC2 Gene

Suggested Antigen Peptide Sequences for AOC2 Gene

GenScript: Design optimal peptide antigens:
  • Semicarbazide-sensitive amine oxidase (AOC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75106

UniProtKB/Swiss-Prot:

AOC2_HUMAN :
  • Belongs to the copper/topaquinone oxidase family.
Family:
  • Belongs to the copper/topaquinone oxidase family.
genes like me logo Genes that share domains with AOC2: view

Function for AOC2 Gene

Molecular function for AOC2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an aliphatic amine + H2O + O2 = an aldehyde + H2O2 + NH4(+); Xref=Rhea:RHEA:16153, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:17478, ChEBI:CHEBI:28938, ChEBI:CHEBI:58001; EC=1.4.3.21; Evidence={ECO:0000250|UniProtKB:P19801};.
UniProtKB/Swiss-Prot Induction:
Up-regulated during in vitro adipocyte differentiation.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.056 mM for tryptamine {ECO:0000269|PubMed:19588076}; KM=0.077 mM for 2-phenylethylamine {ECO:0000269|PubMed:19588076}; KM=0.167 mM for benzylamine {ECO:0000269|PubMed:19588076}; KM=0.178 mM for p-tyramine {ECO:0000269|PubMed:19588076}; KM=1.7 mM for methylamine {ECO:0000269|PubMed:19588076};
GENATLAS Biochemistry:
amine oxidase,copper containing 2,retina specific,with two alternatively spliced isoforms

Enzyme Numbers (IUBMB) for AOC2 Gene

Phenotypes From GWAS Catalog for AOC2 Gene

Gene Ontology (GO) - Molecular Function for AOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005507 copper ion binding IBA 21873635
GO:0008131 primary amine oxidase activity TAS --
GO:0009055 electron transfer activity TAS 9119395
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AOC2: view
genes like me logo Genes that share phenotypes with AOC2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AOC2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AOC2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AOC2 Gene

Localization for AOC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AOC2 Gene

[Isoform 1]: Cell membrane. Peripheral membrane protein. Note=Present on the surface of the cells. {ECO:0000269 PubMed:19588076}.
[Isoform 2]: Cytoplasm. Note=Either not translocated to the plasma membrane or below detection level. {ECO:0000269 PubMed:19588076}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AOC2 gene
Compartment Confidence
plasma membrane 4
extracellular 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for AOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AOC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AOC2 Gene

Pathways & Interactions for AOC2 Gene

genes like me logo Genes that share pathways with AOC2: view

Pathways by source for AOC2 Gene

1 BioSystems pathway for AOC2 Gene
1 GeneGo (Thomson Reuters) pathway for AOC2 Gene
  • Tyrosine metabolism p.1 (dopamine)

Gene Ontology (GO) - Biological Process for AOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006584 catecholamine metabolic process IEA --
GO:0006805 xenobiotic metabolic process TAS --
GO:0007601 visual perception TAS,IEA --
GO:0009308 amine metabolic process IBA 21873635
GO:0022900 electron transport chain IEA --
genes like me logo Genes that share ontologies with AOC2: view

No data available for SIGNOR curated interactions for AOC2 Gene

Drugs & Compounds for AOC2 Gene

(16) Drugs for AOC2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
Copper Approved, Investigational Pharma 249
Dopamine Approved Pharma Agonist, Full agonist 3978
Formaldehyde Approved, Vet_approved Pharma 142
Histamine Approved, Investigational Pharma Agonist, Full agonist 1151

(12) Additional Compounds for AOC2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,3-diaminopropane
  • 1,3-Propanediamine
  • 1,3-Propylenediamine
  • Propane-1,3-diamine
  • tn
  • 1,3-diamino-N-Propane
109-76-2
1-Methylpyrrolinium
  • 1-Methyl-Delta(1)-pyrrolinium
  • N-Methylpyrrolinium
  • 1-Methyl-δ(1)-pyrrolinium
  • 1-Methyl-delta(1)-pyrrolinium chloride
  • 1-Methyl-delta(1)-pyrrolinium, 2-(14)C-labeled
1-Phenylethylamine
  • 1-amino-1-Phenylethane
  • 1-Phenethylamine
  • alpha-Aminoethylbenzene
  • alpha-Methylbenzenemethanamine
  • alpha-Methylbenzylamine
98-84-0
3,4-Dihydroxyphenylacetaldehyde
  • 2-(3,4-Dihydroxyphenyl)ethanal
  • DOPAL
  • Protocatechuatealdehyde
  • 3,4-Dihydroxy-benzeneacetaldehyde
  • DHPAA aldehyde
5707-55-1
3-Aminopropionaldehyde
  • beta-Aminopropion aldehyde
  • b-Aminopropion aldehyde
  • β-aminopropion aldehyde
  • 3-Aminopropanal
352-92-1
genes like me logo Genes that share compounds with AOC2: view

Transcripts for AOC2 Gene

mRNA/cDNA for AOC2 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AOC2

Alternative Splicing Database (ASD) splice patterns (SP) for AOC2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4
SP1: -
SP2:

Relevant External Links for AOC2 Gene

GeneLoc Exon Structure for
AOC2

Expression for AOC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AOC2 Gene

mRNA differential expression in normal tissues according to GTEx for AOC2 Gene

This gene is overexpressed in Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for AOC2 Gene

This gene is overexpressed in Adipocyte (46.4) and Serum (21.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AOC2 Gene



Protein tissue co-expression partners for AOC2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AOC2

SOURCE GeneReport for Unigene cluster for AOC2 Gene:

Hs.143102

mRNA Expression by UniProt/SwissProt for AOC2 Gene:

O75106-AOC2_HUMAN
Tissue specificity: Expressed in many tissues with much higher expression in retina. Isoform 1 and isoform 2 are expressed in adipose tissue, whereas isoform 1 only seems to be present in thymus, and isoform 2 only in testis.

Evidence on tissue expression from TISSUES for AOC2 Gene

  • Eye(4.4)
  • Muscle(2.3)
  • Heart(2.3)
  • Kidney(2.3)
  • Blood(2.1)
  • Intestine(2.1)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with AOC2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AOC2 Gene

Orthologs for AOC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AOC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia AOC2 30 31
  • 99.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AOC2 30 31
  • 89.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AOC2 30 31
  • 88.9 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Aoc2 30 17 31
  • 83.16 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AOC2 31
  • 33 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 60 (a)
ManyToMany
-- 31
  • 50 (a)
ManyToMany
-- 31
  • 46 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii aoc2 31
  • 42 (a)
OneToMany
Species where no ortholog for AOC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for AOC2 Gene

ENSEMBL:
Gene Tree for AOC2 (if available)
TreeFam:
Gene Tree for AOC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AOC2: view image

Paralogs for AOC2 Gene

Paralogs for AOC2 Gene

(3) SIMAP similar genes for AOC2 Gene using alignment to 1 proteins:

  • AOC2_HUMAN
genes like me logo Genes that share paralogs with AOC2: view

Variants for AOC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AOC2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
714859 Benign: not provided 42,845,048(+) C/T MISSENSE_VARIANT
781367 Benign: not provided 42,849,288(+) C/T SYNONYMOUS_VARIANT
rs34230945 - p.Ile5Val
rs34351794 - p.Glu427Asp
rs34435306 - p.Tyr22Cys

Additional dbSNP identifiers (rs#s) for AOC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for AOC2 Gene

Variant ID Type Subtype PubMed ID
esv33998 OTHER inversion 15654335
nsv1146669 OTHER inversion 26484159
nsv483009 CNV gain 15286789

Variation tolerance for AOC2 Gene

Residual Variation Intolerance Score: 36.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.33; 53.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AOC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AOC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AOC2 Gene

Disorders for AOC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AOC2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
median neuropathy
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search AOC2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with AOC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AOC2 Gene

Publications for AOC2 Gene

  1. Human retina-specific amine oxidase: genomic structure of the gene (AOC2), alternatively spliced variant, and mRNA expression in retina. (PMID: 9722954) Imamura Y … Shimizu N (Genomics 1998) 2 3 4 23
  2. Human retina-specific amine oxidase (RAO): cDNA cloning, tissue expression, and chromosomal mapping. (PMID: 9119395) Imamura Y … Shimizu N (Genomics 1997) 2 3 4 23
  3. The unique substrate specificity of human AOC2, a semicarbazide-sensitive amine oxidase. (PMID: 19588076) Kaitaniemi S … Elima K (Cellular and molecular life sciences : CMLS 2009) 3 4
  4. Characterization of AOC2 gene encoding a copper-binding amine oxidase expressed specifically in retina. (PMID: 14585497) Zhang Q … Iwata T (Gene 2003) 3 23
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for AOC2 Gene

Sources for AOC2 Gene