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

Gene ID: 314, updated on 20-Apr-2024

Summary

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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; AllianceGenome:HGNC:549
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
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Genomic context

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Location:
17q21.31
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42844580..42850707)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43701719..43707847)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40996597..41002724)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene beclin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40975527-40976093 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40976094-40976661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40976662-40977228 Neighboring gene microRNA 6781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12227 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The unique substrate specificity of human AOC2, a semicarbazide-sensitive amine oxidase. Kaitaniemi S, et al. Cell Mol Life Sci, 2009 Aug. PMID 19588076
  2. Human retina-specific amine oxidase: genomic structure of the gene (AOC2), alternatively spliced variant, and mRNA expression in retina. Imamura Y, et al. Genomics, 1998 Jul 15. PMID 9722954
  3. Human retina-specific amine oxidase (RAO): cDNA cloning, tissue expression, and chromosomal mapping. Imamura Y, et al. Genomics, 1997 Mar 1. PMID 9119395
  4. Anatomical distribution of primary amine oxidase activity in four adipose depots and plasma of severely obese women with or without a dysmetabolic profile. Carpéné C, et al. J Physiol Biochem, 2016 Aug. PMID 27766585
  5. Structural organization of mammalian copper-containing amine oxidase genes. Schwelberger HG. Inflamm Res, 2010 Mar. PMID 20013028

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Adipose tissue SSAO activity did not vary according to anatomical location and/or metabolic status in severely obese women.
    Title: Anatomical distribution of primary amine oxidase activity in four adipose depots and plasma of severely obese women with or without a dysmetabolic profile.
  2. AOC2 mRNA is expressed in many tissues, however, the only tissues with detectable AOC2-like enzyme activity is found in the eye.
    Title: The unique substrate specificity of human AOC2, a semicarbazide-sensitive amine oxidase.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aliphatic amine oxidase activity IEA
Inferred from Electronic Annotation
more info
  
enables copper ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables electron transfer activity TAS
Traceable Author Statement
more info
 PubMed 
enables primary amine oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables primary amine oxidase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables quinone binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in amine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in catecholamine metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in visual perception TAS
Traceable Author Statement
more info
 PubMed 
involved_in xenobiotic metabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001158.5 → NP_001149.2  amine oxidase [copper-containing] 2 isoform a

    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)
    AC016889, AF081363, CA427935, CN355968, D88213, DQ426861
    Consensus CDS
    CCDS45690.1
    UniProtKB/Swiss-Prot
    O75106
    Related
    ENSP00000406134.1, ENST00000452774.2
    Conserved Domains (4) summary
    PRK11504
    Location:37 → 691
    tynA; tyramine oxidase; Provisional
    pfam01179
    Location:312 → 689
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:62 → 148
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:165 → 263
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

  2. NM_009590.4 → NP_033720.2  amine oxidase [copper-containing] 2 isoform b

    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)
    AC016889, AF081363, CA427935, CN355968, D88213, DQ426861
    Consensus CDS
    CCDS11443.1
    UniProtKB/Swiss-Prot
    A5PKW2, O00120, O75105, O75106, Q4TTW5, Q9UNY0
    Related
    ENSP00000253799.2, ENST00000253799.8
    Conserved Domains (3) summary
    pfam01179
    Location:308 → 716
    Cu_amine_oxid; Copper amine oxidase, enzyme domain
    pfam02727
    Location:62 → 148
    Cu_amine_oxidN2; Copper amine oxidase, N2 domain
    pfam02728
    Location:165 → 263
    Cu_amine_oxidN3; Copper amine oxidase, N3 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42844580..42850707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43701719..43707847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75106.2 GenPept UniProtKB/Swiss-Prot:O75106

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