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AOC2 amine oxidase, copper containing 2 [ Homo sapiens (human) ]

Gene ID: 314, updated on 5-Aug-2018

Summary

Official Symbol
AOC2provided by HGNC
Official Full Name
amine oxidase, copper containing 2provided by HGNC
Primary source
HGNC:HGNC:549
See related
Ensembl:ENSG00000131480 MIM:602268; Vega:OTTHUMG00000180655
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAO; DAO2; SSAO
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 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]
Expression
Broad expression in fat (RPKM 4.0), testis (RPKM 2.5) and 14 other tissues See more
Orthologs

Genomic context

See AOC2 in Genome Data Viewer
Location:
17q21.31
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (42844583..42850712)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40996609..41002724)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985007 Neighboring gene proteasome activator subunit 3 Neighboring gene amine oxidase, copper containing 3 Neighboring gene amine oxidase, copper containing 4, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aliphatic-amine oxidase activity IEA
Inferred from Electronic Annotation
more info
 
aminoacetone:oxygen oxidoreductase(deaminating) activity IEA
Inferred from Electronic Annotation
more info
 
copper ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
copper ion binding IEA
Inferred from Electronic Annotation
more info
 
electron transfer activity TAS
Traceable Author Statement
more info
PubMed 
phenethylamine:oxygen oxidoreductase (deaminating) activity IEA
Inferred from Electronic Annotation
more info
 
primary amine oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
primary amine oxidase activity TAS
Traceable Author Statement
more info
 
quinone binding IEA
Inferred from Electronic Annotation
more info
 
tryptamine:oxygen oxidoreductase (deaminating) activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
amine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amine metabolic process IEA
Inferred from Electronic Annotation
more info
 
catecholamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
retina-specific copper amine oxidase
Names
amine oxidase, copper containing 2 (retina-specific)
semicarbazide-sensitive amine oxidase
NP_001149.2
NP_033720.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001158.4NP_001149.2  retina-specific copper amine oxidase isoform a precursor

    See identical proteins and their annotated locations for NP_001149.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice site in the coding region, compared to variant 2. It encodes isoform a which is shorter than isoform b.
    Source sequence(s)
    AF081363, CA427935, CN355968, D88213, DQ426861
    Consensus CDS
    CCDS45690.1
    UniProtKB/Swiss-Prot
    O75106
    Related
    ENSP00000406134.1, OTTHUMP00000264908, ENST00000452774.2, OTTHUMT00000452443
    Conserved Domains (4) summary
    PRK11504
    Location:37691
    tynA; tyramine oxidase; Provisional
    pfam01179
    Location:312689
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:62148
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:165263
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain
  2. NM_009590.3NP_033720.2  retina-specific copper amine oxidase isoform b precursor

    See identical proteins and their annotated locations for NP_033720.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (b).
    Source sequence(s)
    AF081363, CA427935, CN355968, D88213, DQ426861
    Consensus CDS
    CCDS11443.1
    UniProtKB/Swiss-Prot
    O75106
    Related
    ENSP00000253799.2, OTTHUMP00000264907, ENST00000253799.7, OTTHUMT00000452442
    Conserved Domains (3) summary
    pfam01179
    Location:308716
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:62148
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:165263
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    42844583..42850712
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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