LOCUS       NM_016527               1472 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens hydroxyacid oxidase 2 (HAO2), transcript variant 1,
            mRNA.
ACCESSION   NM_016527
VERSION     NM_016527.4
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 1472)
  AUTHORS   Li,Y., Zhang,M., Li,X., Wang,Y., Wang,Y., Li,Y., Zhu,H., Ding,H.,
            Li,X. and Sun,S.
  TITLE     Hydroxyacid Oxidase 2 (HAO2) Inhibits the Tumorigenicity of
            Hepatocellular Carcinoma and Is Negatively Regulated by miR-615-5p
  JOURNAL   J Immunol Res 2022, 5003930 (2022)
   PUBMED   35528616
  REMARK    GeneRIF: Hydroxyacid Oxidase 2 (HAO2) Inhibits the Tumorigenicity
            of Hepatocellular Carcinoma and Is Negatively Regulated by
            miR-615-5p.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1472)
  AUTHORS   Zouboulis,C.C., Nogueira da Costa,A., Fimmel,S. and Zouboulis,K.C.
  TITLE     Apocrine glands are bystanders in hidradenitis suppurativa and
            their involvement is gender specific
  JOURNAL   J Eur Acad Dermatol Venereol 34 (7), 1555-1563 (2020)
   PUBMED   32031713
REFERENCE   3  (bases 1 to 1472)
  AUTHORS   Liu,X.L., Pan,W.G., Li,K.L., Mao,Y.J., Liu,S.D. and Zhang,R.M.
  TITLE     miR-1293 Suppresses Tumor Malignancy by Targeting Hydrocyanic
            Oxidase 2: Therapeutic Potential of a miR-1293/Hydrocyanic Oxidase
            2 Axis in Renal Cell Carcinoma
  JOURNAL   Cancer Biother Radiopharm 35 (5), 377-386 (2020)
   PUBMED   31971830
  REMARK    GeneRIF: miR-1293 Suppresses Tumor Malignancy by Targeting
            Hydrocyanic Oxidase 2: Therapeutic Potential of a
            miR-1293/Hydrocyanic Oxidase 2 Axis in Renal Cell Carcinoma.
REFERENCE   4  (bases 1 to 1472)
  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   5  (bases 1 to 1472)
  AUTHORS   Xiao,W., Wang,X., Wang,T., Chen,B. and Xing,J.
  TITLE     HAO2 inhibits malignancy of clear cell renal cell carcinoma by
            promoting lipid catabolic process
  JOURNAL   J Cell Physiol 234 (12), 23005-23016 (2019)
   PUBMED   31127626
  REMARK    GeneRIF: Overexpression of HAO2 by plasmid promoted lipid catabolic
            process, eliminated lipid accumulation, inhibited KRAS expression,
            controlled the proliferation, migration, and invasion activity of
            clear cell renal cell carcinoma (ccRCC) tumor cells
REFERENCE   6  (bases 1 to 1472)
  AUTHORS   Shin,S.Y., Fauman,E.B., Petersen,A.K., Krumsiek,J., Santos,R.,
            Huang,J., Arnold,M., Erte,I., Forgetta,V., Yang,T.P., Walter,K.,
            Menni,C., Chen,L., Vasquez,L., Valdes,A.M., Hyde,C.L., Wang,V.,
            Ziemek,D., Roberts,P., Xi,L., Grundberg,E., Waldenberger,M.,
            Richards,J.B., Mohney,R.P., Milburn,M.V., John,S.L., Trimmer,J.,
            Theis,F.J., Overington,J.P., Suhre,K., Brosnan,M.J., Gieger,C.,
            Kastenmuller,G., Spector,T.D. and Soranzo,N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   7  (bases 1 to 1472)
  AUTHORS   Barawkar,D.A., Bandyopadhyay,A., Deshpande,A., Koul,S.,
            Kandalkar,S., Patil,P., Khose,G., Vyas,S., Mone,M., Bhosale,S.,
            Singh,U., De,S., Meru,A., Gundu,J., Chugh,A., Palle,V.P.,
            Mookhtiar,K.A., Vacca,J.P., Chakravarty,P.K., Nargund,R.P.,
            Wright,S.D., Roy,S., Graziano,M.P., Cully,D., Cai,T.Q. and
            Singh,S.B.
  TITLE     Discovery of pyrazole carboxylic acids as potent inhibitors of rat
            long chain L-2-hydroxy acid oxidase
  JOURNAL   Bioorg Med Chem Lett 22 (13), 4341-4347 (2012)
   PUBMED   22658862
REFERENCE   8  (bases 1 to 1472)
  AUTHORS   Ghosh,D. and Berg,J.M.
  TITLE     A proteome-wide perspective on peroxisome targeting signal
            1(PTS1)-Pex5p affinities
  JOURNAL   J Am Chem Soc 132 (11), 3973-3979 (2010)
   PUBMED   20178365
REFERENCE   9  (bases 1 to 1472)
  AUTHORS   Ma,Q., Wyszynski,D.F., Farrell,J.J., Kutlar,A., Farrer,L.A.,
            Baldwin,C.T. and Steinberg,M.H.
  TITLE     Fetal hemoglobin in sickle cell anemia: genetic determinants of
            response to hydroxyurea
  JOURNAL   Pharmacogenomics J 7 (6), 386-394 (2007)
   PUBMED   17299377
REFERENCE   10 (bases 1 to 1472)
  AUTHORS   Jones,J.M., Morrell,J.C. and Gould,S.J.
  TITLE     Identification and characterization of HAOX1, HAOX2, and HAOX3,
            three human peroxisomal 2-hydroxy acid oxidases
  JOURNAL   J Biol Chem 275 (17), 12590-12597 (2000)
   PUBMED   10777549
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK298289.1, BC020863.1,
            AF231917.1 and AA919149.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_016527.3.
            
            Summary: This gene is one of three related genes that have
            2-hydroxyacid oxidase activity. The encoded protein localizes to
            the peroxisome has the highest activity toward the substrate
            2-hydroxypalmitate. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript. The encoded isoform (1) has a shorter N-terminus than
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF231917.1, AY513277.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000325945.4/ ENSP00000316339.3
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                AK298289.1         10-71
            63-118              BC020863.1         39-94
            119-141             BC020863.1         315-337
            142-1470            AF231917.1         89-1417
            1471-1472           AA919149.1         8-9                 c
FEATURES             Location/Qualifiers
     source          1..1472
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p12"
     gene            1..1472
                     /gene="HAO2"
                     /gene_synonym="GIG16; HAOX2"
                     /note="hydroxyacid oxidase 2"
                     /db_xref="GeneID:51179"
                     /db_xref="HGNC:HGNC:4810"
                     /db_xref="MIM:605176"
     exon            1..118
                     /gene="HAO2"
                     /gene_synonym="GIG16; HAOX2"
                     /inference="alignment:Splign:2.1.0"
     exon            119..257
                     /gene="HAO2"
                     /gene_synonym="GIG16; HAOX2"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..1182
                     /gene="HAO2"
                     /gene_synonym="GIG16; HAOX2"
                     /EC_number="1.1.3.15"
                     /note="isoform 1 is encoded by transcript variant 1;
                     glycolate oxidase; long-chain L-2-hydroxy acid oxidase;
                     (S)-2-hydroxy-acid oxidase, peroxisomal; 2-Hydroxyacid
                     oxidase 2; long chain alpha-hydroxy acid oxidase;
                     hydroxyacid oxidase 2 (long chain); cell growth-inhibiting
                     gene 16 protein"
                     /codon_start=1
                     /product="2-Hydroxyacid oxidase 2 isoform 1"
                     /protein_id="NP_057611.1"
                     /db_xref="CCDS:CCDS901.1"
                     /db_xref="GeneID:51179"
                     /db_xref="HGNC:HGNC:4810"
                     /db_xref="MIM:605176"
                     /translation="MSLVCLTDFQAHAREQLSKSTRDFIEGGADDSITRDDNIAAFKR
                     IRLRPRYLRDVSEVDTRTTIQGEEISAPICIAPTGFHCLVWPDGEMSTARAAQAAGIC
                     YITSTFASCSLEDIVIAAPEGLRWFQLYVHPDLQLNKQLIQRVESLGFKALVITLDTP
                     VCGNRRHDIRNQLRRNLTLTDLQSPKKGNAIPYFQMTPISTSLCWNDLSWFQSITRLP
                     IILKGILTKEDAELAVKHNVQGIIVSNHGGRQLDEVLASIDALTEVVAAVKGKIEVYL
                     DGGVRTGNDVLKALALGAKCIFLGRPILWGLACKGEHGVKEVLNILTNEFHTSMALTG
                     CRSVAEINRNLVQFSRL"
     exon            258..409
                     /gene="HAO2"
                     /gene_synonym="GIG16; HAOX2"
                     /inference="alignment:Splign:2.1.0"
     exon            410..687
                     /gene="HAO2"
                     /gene_synonym="GIG16; HAOX2"
                     /inference="alignment:Splign:2.1.0"
     exon            688..897
                     /gene="HAO2"
                     /gene_synonym="GIG16; HAOX2"
                     /inference="alignment:Splign:2.1.0"
     exon            898..1056
                     /gene="HAO2"
                     /gene_synonym="GIG16; HAOX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1126
                     /gene="HAO2"
                     /gene_synonym="GIG16; HAOX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1472
                     /gene="HAO2"
                     /gene_synonym="GIG16; HAOX2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1433..1438
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAO2"
                     /gene_synonym="GIG16; HAOX2"
                     /note="hexamer: AGTAAA"
     polyA_site      1472
                     /gene="HAO2"
                     /gene_synonym="GIG16; HAOX2"
                     /note="major polyA site"
ORIGIN      
        1 agcctgaact gtgggtagtg atgtggtgtg tttcctaaca cctccggcag tgagccaggc
       61 tttgagtggc tgcgtctaaa cacttctttc cctgaggact ggaagacatt agaataaggt
      121 ccagaaatgt ccttggtgtg tttgacagac tttcaggccc atgcgcgaga gcagctgtct
      181 aagtcaactc gggattttat tgaaggtgga gcagatgaca gcatcacgcg ggatgacaac
      241 attgcagcat ttaaaagaat tcgcctccgt ccgcggtacc tgagagatgt gtctgaggtg
      301 gacaccagaa ccacaatcca aggggaggag atcagtgccc ctatttgtat cgcacccaca
      361 gggttccact gccttgtctg gcctgatggg gaaatgagca cagcaagagc tgcccaagcg
      421 gctggtatct gctacatcac cagcacattt gccagctgta gccttgaaga cattgtcatt
      481 gcagctcccg aaggcctccg atggttccaa ctctatgtgc atccagacct gcagctgaac
      541 aaacagttga tccagagggt agaatcccta ggtttcaaag ctttggtaat aactttggat
      601 acacctgtat gtggcaacag gcgacatgac attcgaaacc agttgaggag gaacttaaca
      661 ctaacagatc ttcaatcacc taaaaaggga aatgcaatac cttatttcca gatgactcct
      721 atcagcactt ctctctgctg gaatgatctc tcctggtttc agagcataac tcgattgccc
      781 atcatcctga aagggatttt gacaaaagag gatgcagagt tagctgtgaa gcacaatgtc
      841 cagggtatca ttgtttccaa ccatggtggg aggcagcttg atgaggttct tgcttcaatt
      901 gatgctttga cagaagtggt ggctgctgta aaggggaaaa ttgaagtcta cctggatggc
      961 ggggtccgaa ctggcaatga tgtgctgaag gctctggccc ttggagctaa gtgcattttt
     1021 cttgggagac caatcctatg gggccttgcc tgcaagggtg aacatggtgt taaggaagtt
     1081 ttgaacattt taacaaatga gttccacact tccatggccc ttacaggctg ccggtcggtc
     1141 gctgagatca atcgaaactt ggtccagttt tccaggctgt aagaaaaaag ggccaataac
     1201 cagactgctg aggttgccca caggaggatc acaaactcac agcacagtgt gtgatgctgt
     1261 ccttcctgga ccccattctg tccggaggct catggcccat atttcccaca tttctaatac
     1321 caccacccct gtgcttcagg ccctccaaac ccctgtgttc cccaaatgtt ccatgccctt
     1381 ctttgtatca ctgactatta tatgttgctc tcttgcctaa atcttcctct gaagtaaaag
     1441 atctcaaaag gacagatcat taatgactgg aa
//
