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Aliases for AOC2 Gene

Aliases for AOC2 Gene

  • Amine Oxidase, Copper Containing 2 2 3 5
  • Amine Oxidase, Copper Containing 2 (Retina-Specific) 2 3
  • Semicarbazide-Sensitive Amine Oxidase 3 4
  • SSAO 3 4
  • RAO 3 4
  • Retina-Specific Copper Amine Oxidase 3
  • Amine Oxidase [Copper-Containing] 4
  • EC 1.4.3.21 4
  • EC 1.4.3 61
  • DAO2 3

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). GO annotations related to this gene include electron carrier activity and quinone binding. An important paralog of this gene is AOC3.

UniProtKB/Swiss-Prot 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AOC2 Gene

Genomics for AOC2 Gene

Regulatory Elements for AOC2 Gene

Enhancers for AOC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G042928 1.3 Ensembl ENCODE 12.4 +84.5 84476 1.8 HDGF FOXA2 ARNT ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF143 MXD4 G6PC LINC00671 RNU6-287P AOC3 AOC2 CNTD1 COA3 VPS25 RAMP2-AS1 RAMP2
GH17G042823 1.1 ENCODE 11.8 -20.5 -20515 1.7 HDGF MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 COA3 CNTD1 AOC2 AOC3 VPS25 RAMP2-AS1 RAMP2 HMGN2P15 WNK4 AARSD1
GH17G042802 1 ENCODE 11 -39.6 -39576 4.3 HNRNPUL1 PKNOX1 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 TCF12 WNK4 VPS25 RAMP2-AS1 RAMP2 HMGN2P15 EZH1 AOC2 AOC3 PSMC3IP AOC4P
GH17G042878 0.8 ENCODE 12.5 +33.7 33747 0.2 SOX13 DRAP1 MXI1 SAP130 MLX MAX ZNF384 RAD21 THRB RARA G6PC LINC00671 AOC3 AOC2 AOC4P RNU6-287P
GH17G042820 0.8 ENCODE 11.1 -24.4 -24445 0.2 CTCF TFAP4 PKNOX1 SAP130 ARID4B SIN3A ZNF48 RAD21 GATA3 ZNF143 VPS25 RAMP2-AS1 RAMP2 HMGN2P15 COA3 CNTD1 WNK4 AOC2 AOC3 VAT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AOC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AOC2 Gene

Chromosome:
17
Start:
42,844,592 bp from pter
End:
42,850,707 bp from pter
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=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    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 posLast=133133, Asn198, Asn226, Asn588, and posLast=662662
  • Modification sites at PhosphoSitePlus

Other Protein References for AOC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AOC2 Gene

Suggested Antigen Peptide Sequences for AOC2 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for AOC2 Gene

Function for AOC2 Gene

Molecular function for AOC2 Gene

GENATLAS Biochemistry:
amine oxidase,copper containing 2,retina specific,with two alternatively spliced isoforms
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};
UniProtKB/Swiss-Prot CatalyticActivity:
RCH(2)NH(2) + H(2)O + O(2) = RCHO + NH(3) + H(2)O(2).
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 Induction:
Up-regulated during in vitro adipocyte differentiation.

Enzyme Numbers (IUBMB) for AOC2 Gene

Gene Ontology (GO) - Molecular Function for AOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005507 copper ion binding IEA --
GO:0008131 primary amine oxidase activity TAS --
GO:0009055 electron carrier 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

miRNA for AOC2 Gene

miRTarBase miRNAs that target AOC2

Inhibitory RNA Products

Clone Products

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 5
extracellular 2
lysosome 2
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

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

Pathways & Interactions for AOC2 Gene

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

Pathways by source for AOC2 Gene

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 IEA,TAS --
GO:0009308 amine metabolic process IEA --
GO:0055114 oxidation-reduction process 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

(12) Drugs for AOC2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma 181
Dopamine Approved Pharma Full agonist, Agonist 3836
Formaldehyde Approved, Vet_approved Pharma 93
Histamine Approved, Investigational Pharma Full agonist, Agonist 1050
Oxygen Approved, Vet_approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1,3-diaminopropane
  • 1,3-Diamino-N-propane
  • 1,3-Propanediamine
  • 1,3-Propylenediamine
  • 1,3-Trimethylenediamine
  • 3-Aminopropylamine
109-76-2
1-Methylpyrrolinium
1-Phenylethylamine
  • (1-Aminoethyl)benzene
  • (S)-(-)-a-Methyl-benzylamine
  • 1-Amino-1-phenylethane
  • 1-Fenylethylamin
  • 1-Phenyl-1-ethanamine
98-84-0
3,4-Dihydroxyphenylacetaldehyde
  • 3,4-Dihydroxy-Benzeneacetaldehyde
  • Protocatechuatealdehyde
5707-55-1
3-Aminopropionaldehyde
  • 3-Aminopropanal
  • 3-Aminopropionaldehyde
  • beta-Aminopropion aldehyde
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 :
(3) Additional mRNA sequences :
(20) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AOC2 Gene

Amine oxidase, copper containing 2 (retina-specific):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
AOC2

Expression for AOC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for AOC2 Gene



Protein tissue co-expression partners for AOC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of AOC2 Gene:

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(4.3)
  • Muscle(2.1)
  • Heart(2)
  • Kidney(2)
  • Lung(2)
genes like me logo Genes that share expression patterns with AOC2: view

Primer Products

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 34 35
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia AOC2 34 35
  • 89.74 (n)
cow
(Bos Taurus)
Mammalia AOC2 34 35
  • 88.9 (n)
mouse
(Mus musculus)
Mammalia Aoc2 34 16 35
  • 83.16 (n)
oppossum
(Monodelphis domestica)
Mammalia AOC2 35
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 60 (a)
ManyToMany
-- 35
  • 50 (a)
ManyToMany
-- 35
  • 46 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii aoc2 35
  • 42 (a)
OneToMany
Species where no ortholog for AOC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for AOC2 Gene

Paralogs for AOC2 Gene

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

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

Variants for AOC2 Gene

Sequence variations from dbSNP and Humsavar for AOC2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000783537 -- 42,845,513(+) ATCCC(C/T)GAGGT reference, missense
rs1001429718 -- 42,848,897(+) CCTAT(C/T)GGATA intron-variant
rs1001795441 -- 42,848,391(+) TGTTT(G/T)GTAGT intron-variant
rs1002213011 -- 42,849,205(+) AGGAC(C/T)TGACA upstream-variant-2KB, reference, synonymous-codon
rs1002688298 -- 42,843,613(+) CCCAG(C/T)CATTT nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime

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)

Relevant External Links for AOC2 Gene

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

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

Relevant External Links for AOC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AOC2
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 22 64
  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 22 64
  3. The unique substrate specificity of human AOC2, a semicarbazide- sensitive amine oxidase. (PMID: 19588076) Kaitaniemi S. … Elima K. (Cell. Mol. Life Sci. 2009) 3 4 64
  4. Characterization of AOC2 gene encoding a copper-binding amine oxidase expressed specifically in retina. (PMID: 14585497) Zhang Q. … Iwata T. (Gene 2003) 3 22 64
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3 64

Products for AOC2 Gene

Sources for AOC2 Gene

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