LOCUS       NM_009590               2677 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens amine oxidase copper containing 2 (AOC2), transcript
            variant 2, mRNA.
ACCESSION   NM_009590
VERSION     NM_009590.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2677)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2677)
  AUTHORS   Carpene,C., Les,F., Hasnaoui,M., Biron,S., Marceau,P., Richard,D.,
            Galitzky,J., Joanisse,D.R. and Mauriege,P.
  TITLE     Anatomical distribution of primary amine oxidase activity in four
            adipose depots and plasma of severely obese women with or without a
            dysmetabolic profile
  JOURNAL   J Physiol Biochem 73 (3), 475-486 (2016)
   PUBMED   27766585
  REMARK    GeneRIF: Adipose tissue SSAO activity did not vary according to
            anatomical location and/or metabolic status in severely obese
            women.
            Erratum:[J Physiol Biochem. 2017 Nov;73(4):623. doi:
            10.1007/s13105-017-0593-x.. PMID: 28983875]
REFERENCE   3  (bases 1 to 2677)
  AUTHORS   Schwelberger,H.G.
  TITLE     Structural organization of mammalian copper-containing amine
            oxidase genes
  JOURNAL   Inflamm Res 59 Suppl 2, S223-S225 (2010)
   PUBMED   20013028
REFERENCE   4  (bases 1 to 2677)
  AUTHORS   Kaitaniemi,S., Elovaara,H., Gron,K., Kidron,H., Liukkonen,J.,
            Salminen,T., Salmi,M., Jalkanen,S. and Elima,K.
  TITLE     The unique substrate specificity of human AOC2, a
            semicarbazide-sensitive amine oxidase
  JOURNAL   Cell Mol Life Sci 66 (16), 2743-2757 (2009)
   PUBMED   19588076
  REMARK    GeneRIF: AOC2 mRNA is expressed in many tissues, however, the only
            tissues with detectable AOC2-like enzyme activity is found in the
            eye.
REFERENCE   5  (bases 1 to 2677)
  AUTHORS   Roni,V., Carpio,R. and Wissinger,B.
  TITLE     Mapping of transcription start sites of human retina expressed
            genes
  JOURNAL   BMC Genomics 8, 42 (2007)
   PUBMED   17286855
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2677)
  AUTHORS   Zhang,Q., Mashima,Y., Noda,S., Imamura,Y., Kudoh,J., Shimizu,N.,
            Nishiyama,T., Umeda,S., Oguchi,Y., Tanaka,Y. and Iwata,T.
  TITLE     Characterization of AOC2 gene encoding a copper-binding amine
            oxidase expressed specifically in retina
  JOURNAL   Gene 318, 45-53 (2003)
   PUBMED   14585497
REFERENCE   7  (bases 1 to 2677)
  AUTHORS   Imamura,Y., Noda,S., Mashima,Y., Kudoh,J., Oguchi,Y. and Shimizu,N.
  TITLE     Human retina-specific amine oxidase: genomic structure of the gene
            (AOC2), alternatively spliced variant, and mRNA expression in
            retina
  JOURNAL   Genomics 51 (2), 293-298 (1998)
   PUBMED   9722954
REFERENCE   8  (bases 1 to 2677)
  AUTHORS   Imamura,Y., Kubota,R., Wang,Y., Asakawa,S., Kudoh,J., Mashima,Y.,
            Oguchi,Y. and Shimizu,N.
  TITLE     Human retina-specific amine oxidase (RAO): cDNA cloning, tissue
            expression, and chromosomal mapping
  JOURNAL   Genomics 40 (2), 277-283 (1997)
   PUBMED   9119395
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016889.28, DQ426861.1,
            CN355968.1, D88213.1, AF081363.1 and CA427935.1.
            
            On Nov 23, 2018 this sequence version replaced NM_009590.3.
            
            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].
            
            Transcript Variant: This variant (2) represents the longer
            transcript and encodes the longer isoform (b).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC142641.1, AF081363.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000253799.8/ ENSP00000253799.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC016889.28        110192-110194
            4-12                DQ426861.1         1-9
            13-232              CN355968.1         183-402
            233-589             D88213.1           212-568
            590-2671            AF081363.1         569-2650
            2672-2677           CA427935.1         23-28               c
FEATURES             Location/Qualifiers
     source          1..2677
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..2677
                     /gene="AOC2"
                     /gene_synonym="DAO2; RAO; SSAO"
                     /note="amine oxidase copper containing 2"
                     /db_xref="GeneID:314"
                     /db_xref="HGNC:HGNC:549"
                     /db_xref="MIM:602268"
     exon            1..1635
                     /gene="AOC2"
                     /gene_synonym="DAO2; RAO; SSAO"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..2318
                     /gene="AOC2"
                     /gene_synonym="DAO2; RAO; SSAO"
                     /EC_number="1.4.3.21"
                     /note="isoform b is encoded by transcript variant 2;
                     retina-specific copper amine oxidase;
                     semicarbazide-sensitive amine oxidase; amine oxidase,
                     copper containing 2 (retina-specific); amine oxidase
                     [copper-containing] 2"
                     /codon_start=1
                     /product="amine oxidase [copper-containing] 2 isoform b"
                     /protein_id="NP_033720.2"
                     /db_xref="CCDS:CCDS11443.1"
                     /db_xref="GeneID:314"
                     /db_xref="HGNC:HGNC:549"
                     /db_xref="MIM:602268"
                     /translation="MHLKIVLAFLALSLITIFALAYVLLTSPGGSSQPPHCPSVSHRA
                     QPWPHPGQSQLFADLSREELTAVMRFLTQRLGPGLVDAAQAQPSDNCIFSVELQLPPK
                     AAALAHLDRGSPPPAREALAIVLFGGQPQPNVSELVVGPLPHPSYMRDVTVERHGGPL
                     PYHRRPVLRAEFTQMWRHLKEVELPKAPIFLSSTFNYNGSTLAAVHATPRGLRSGDRA
                     TWMALYHNISGVGLFLHPVGLELLLDHRALDPAHWTVQQVFYLGHYYADLGQLEREFK
                     SGRLEVVRVPLPPPNGASSLRSRNSPGPLPPLQFSPQGSQYSVQGNLVVSSLWSFTFG
                     HGVFSGLRIFDVRFQGERIAYEVSVQECVSIYGADSPKTMLTRYLDSSFGLGRNSRGL
                     VRGVDCPYQATMVDIHILVGKGAVQLLPGAVCVFEEAQGLPLRRHHNYLQNHFYGGLA
                     SSALVVRSVSSVGNYDYIWDFVLYPNGALEGRVHATGYINTAFLKGGEEGLLFGNRVG
                     ERVLGTVHTHAFHFKLDLDVAGLKNWVVAEDVVFKPVAAPWNPEHWLQRPQLTRQVLG
                     KEDLTAFSLGSPLPRYLYLASNQTNAWGHQRGYRIQIHSPLGIHIPLESDMERALSWG
                     RYQLVVTQRKEEESQSSSIYHQNDIWTPTVTFADFINNETLLGEDLVAWVTASFLHIP
                     HAEDIPNTVTLGNRVGFLLRPYNFFDEDPSIFSPGSVYFEKGQDAGLCSINPVACLPD
                     LAACVPDLPPFSYHGF"
     exon            1636..1921
                     /gene="AOC2"
                     /gene_synonym="DAO2; RAO; SSAO"
                     /inference="alignment:Splign:2.1.0"
     exon            1922..2051
                     /gene="AOC2"
                     /gene_synonym="DAO2; RAO; SSAO"
                     /inference="alignment:Splign:2.1.0"
     exon            2052..2677
                     /gene="AOC2"
                     /gene_synonym="DAO2; RAO; SSAO"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2658..2663
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AOC2"
                     /gene_synonym="DAO2; RAO; SSAO"
                     /note="hexamer: AATAAA"
     polyA_site      2677
                     /gene="AOC2"
                     /gene_synonym="DAO2; RAO; SSAO"
                     /note="major polyA site"
ORIGIN      
        1 ggaaggagca gctgttagaa ttctgatttc agctctcagc atccaccatg catctcaaga
       61 tagtcctggc gttcctggca ctgtccctca ttaccatctt tgccctggcc tatgttttgc
      121 tgaccagccc aggtggttcc agccagcctc cccactgccc ctctgtatcc catagggccc
      181 agccctggcc acaccctggc cagagccagc tgtttgcaga cctgagccga gaggagttga
      241 cagctgtgat gcgctttctg acccagcggc tggggccagg gctggtggac gcagcccagg
      301 ctcagccctc ggacaactgc atcttctcag tggagctgca gctgcccccc aaggctgcag
      361 ccctggccca cctggacagg gggagccccc cacctgcccg ggaggcactg gccatcgtcc
      421 tctttggtgg acaaccccaa cccaatgtga gtgagctggt ggtggggccg ctgcctcacc
      481 cctcgtacat gcgggatgtg actgtggagc gtcacggcgg gcccctgccc tatcaccgtc
      541 gcccggtgct gagagctgag tttacacaga tgtggaggca tctgaaagag gtggagctac
      601 ccaaggcacc catcttcctg tcgtccacct tcaactacaa tggctctacc ctggcagctg
      661 tgcatgccac ccctcggggc ttgcgctcag gggaccgagc tacctggatg gccctctacc
      721 ataacatctc aggggttggt cttttccttc accccgtggg gctggagcta ctactggacc
      781 acagggccct ggaccctgcc cactggactg tccagcaggt cttctacctt gggcactact
      841 atgcagactt gggccagttg gaacgggagt ttaagtctgg ccggttggaa gtggttagag
      901 tccctctacc tccaccaaat ggagcttcat ccctgaggtc tcggaactct ccaggtcctc
      961 ttccccctct tcagttctcg ccccagggtt cccagtacag tgtgcaagga aacctggtgg
     1021 tatcctccct ctggtcattt acctttggcc atggggtgtt cagcggcctg aggatttttg
     1081 atgttcggtt ccagggtgag cgaatagcct atgaagtcag tgtccaggag tgtgtatcta
     1141 tctatggtgc cgattcaccc aagacgatgc tgactcgcta tttggatagc agctttggac
     1201 tcggccgtaa cagccgaggc ttggtgcggg gagtggactg cccctatcaa gccacgatgg
     1261 tggacatcca tatattagtg ggcaaagggg cagtccagct gcttccaggg gctgtgtgtg
     1321 tatttgagga agcccaggga ctgccccttc gaaggcacca caattacctt caaaatcatt
     1381 tctatggtgg tttggccagc tcagcccttg tggtcaggtc tgtgtcatct gtgggcaact
     1441 atgactacat ttgggacttt gtgttgtacc caaatggggc acttgaaggg cgggtccatg
     1501 ccacgggtta tatcaacaca gctttcctga aagggggaga ggagggcctc ctctttggga
     1561 accgtgtggg ggaaagagtg ctgggaacgg tgcacacaca tgccttccac ttcaagctgg
     1621 acctggatgt ggcagggctg aaaaactggg tggtagctga agacgtggtg tttaaacctg
     1681 tggctgcccc ctggaacccg gagcactggc tacagcgccc acagctgact cggcaggtcc
     1741 tgggaaagga ggacctgaca gctttttcct tgggaagccc cctaccccgc tacctctacc
     1801 tggctagcaa ccagactaat gcgtggggtc accagcgcgg gtaccgaatc cagatccaca
     1861 gcccccttgg catacacata cccctggaga gtgacatgga gagggccctc agctggggga
     1921 gataccagct tgtggtgacc cagagaaagg aggaggagtc acagagcagt agcatctatc
     1981 accagaatga catctggaca cccacagtta cctttgctga cttcatcaac aatgaaaccc
     2041 tcttaggaga ggatctggtg gcttgggtca cagccagctt cctgcacatt ccccatgccg
     2101 aggacatccc aaacacagtg actctgggga acagagttgg cttcttgctc cgaccctata
     2161 acttctttga tgaggacccc tccatcttct cccctggcag tgtctacttt gagaagggcc
     2221 aggatgctgg gctctgcagc atcaatcctg tggcctgcct ccccgacctg gcagcctgtg
     2281 tcccggactt accccctttc tcttaccacg gcttctagtc ctgagggtgt ggcgggcggc
     2341 gtggttaggc acatgtactt ttccctgttt ctactttcta ttctccgtgt ttttatcaca
     2401 cctgctcccc agattcccac cccctcaatg ttcctctcac acgaaacccc catcagtccc
     2461 tttggttaat tcttacttcc tgttcatctc taaagtgtta aattataaaa atgattttta
     2521 aatattcaaa gaaaaatatc acaaatccta ctactcagaa ataggtggtc acattacatc
     2581 agacatctct ttatgcatgt gcattcaaaa ggaagagtag atagaatttt gtaaaacaga
     2641 tgttgtatgt aatttataat aaaaagtatt agaggaa
//
