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

Gene ID: 314, updated on 10-Dec-2024

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; 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

See AOC2 in Genome Data Viewer
Location:
17q21.31
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42844580..42850707)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43701719..43707847)
RS_2024_09 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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aliphatic amine oxidase activity  
enables copper ion binding  
enables electron transfer activity PubMed 
enables primary methylamine oxidase activity  
enables primary methylamine oxidase activity PubMed 
enables primary methylamine oxidase activity  
enables protein binding PubMed 
enables quinone binding  
Process Evidence Code Pubs
involved_in amine metabolic process  
involved_in catecholamine metabolic process  
involved_in visual perception PubMed 
involved_in xenobiotic metabolic process  
Component Evidence Code Pubs
located_in cytoplasm PubMed 
located_in cytoplasm  
is_active_in plasma membrane  
is_active_in plasma membrane PubMed 
located_in plasma membrane  

General protein information

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_001158.5NP_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: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_009590.4NP_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: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: GCF_000001405.40-RS_2024_08

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)
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