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

    Gene ID: 314, updated on 10-Dec-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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    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

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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. 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
    2. Human retina-specific amine oxidase (RAO): cDNA cloning, tissue expression, and chromosomal mapping. Imamura Y, et al. Genomics, 1997 Mar 1. PMID 9119395
    3. 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
    4. The unique substrate specificity of human AOC2, a semicarbazide-sensitive amine oxidase. Kaitaniemi S, et al. Cell Mol Life Sci, 2009 Aug. PMID 19588076, Free PMC Article
    5. Structural organization of mammalian copper-containing amine oxidase genes. Schwelberger HG. Inflamm Res, 2010 Mar. PMID 20013028

    See all (16) 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)

    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 methylamine oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables primary methylamine oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables primary methylamine 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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_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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75106.2 GenPept UniProtKB/Swiss-Prot:O75106

    Gene LinkOut

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