LOCUS       NM_001584               2562 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens metallophosphoesterase domain containing 2 (MPPED2),
            transcript variant 1, mRNA.
ACCESSION   NM_001584 XM_005253110
VERSION     NM_001584.3
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 2562)
  AUTHORS   Zhong,Y., Wu,Y., Yang,Y., Chen,Y., Hui,R., Zhang,M. and Zhang,W.
  TITLE     Association of MPPED2 gene variant rs10767873 with kidney function
            and risk of cardiovascular disease in patients with hypertension
  JOURNAL   J Hum Genet 68 (6), 393-398 (2023)
   PUBMED   36797372
  REMARK    GeneRIF: Association of MPPED2 gene variant rs10767873 with kidney
            function and risk of cardiovascular disease in patients with
            hypertension.
REFERENCE   2  (bases 1 to 2562)
  AUTHORS   Pellecchia,S., De Martino,M., Esposito,F., Quintavalle,C., Fusco,A.
            and Pallante,P.
  TITLE     MPPED2 is downregulated in glioblastoma, and its restoration
            inhibits proliferation and increases the sensitivity to
            temozolomide of glioblastoma cells
  JOURNAL   Cell Cycle 20 (7), 716-729 (2021)
   PUBMED   33734003
  REMARK    GeneRIF: MPPED2 is downregulated in glioblastoma, and its
            restoration inhibits proliferation and increases the sensitivity to
            temozolomide of glioblastoma cells.
REFERENCE   3  (bases 1 to 2562)
  AUTHORS   Katifelis,H., Sioziou,A., Gazouli,M. and Emmanouil,D.
  TITLE     ACTN2 (rs6656267) and MPPED2 (rs11031093 and rs536007)
            polymorphisms in primary dentition caries: A case-control study
  JOURNAL   Int J Paediatr Dent 30 (4), 478-482 (2020)
   PUBMED   32040219
  REMARK    GeneRIF: CTN2 (rs6655267) and MPPED2 (rs536007) are not associated
            with primary dentition caries. MPPED2 (rs11031093, G Allele) is
            marginally associated.
REFERENCE   4  (bases 1 to 2562)
  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 2562)
  AUTHORS   Dermol,U., Janardan,V., Tyagi,R., Visweswariah,S.S. and Podobnik,M.
  TITLE     Unique utilization of a phosphoprotein phosphatase fold by a
            mammalian phosphodiesterase associated with WAGR syndrome
  JOURNAL   J Mol Biol 412 (3), 481-494 (2011)
   PUBMED   21824479
  REMARK    GeneRIF: The structures of MPPED2 and two mutants show that the
            poor activity of MPPED2 is not only a consequence of the
            substitution of an active-site histidine residue by glycine but
            also due to binding of AMP or GMP to the active site.
REFERENCE   6  (bases 1 to 2562)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2562)
  AUTHORS   Venkatesan,K., Rual,J.F., Vazquez,A., Stelzl,U., Lemmens,I.,
            Hirozane-Kishikawa,T., Hao,T., Zenkner,M., Xin,X., Goh,K.I.,
            Yildirim,M.A., Simonis,N., Heinzmann,K., Gebreab,F., Sahalie,J.M.,
            Cevik,S., Simon,C., de Smet,A.S., Dann,E., Smolyar,A.,
            Vinayagam,A., Yu,H., Szeto,D., Borick,H., Dricot,A., Klitgord,N.,
            Murray,R.R., Lin,C., Lalowski,M., Timm,J., Rau,K., Boone,C.,
            Braun,P., Cusick,M.E., Roth,F.P., Hill,D.E., Tavernier,J.,
            Wanker,E.E., Barabasi,A.L. and Vidal,M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
REFERENCE   8  (bases 1 to 2562)
  AUTHORS   Schwartz,F. and Ota,T.
  TITLE     The 239AB gene on chromosome 22: a novel member of an ancient gene
            family
  JOURNAL   Gene 194 (1), 57-62 (1997)
   PUBMED   9266672
REFERENCE   9  (bases 1 to 2562)
  AUTHORS   Schwartz,F., Eisenman,R., Knoll,J., Gessler,M. and Bruns,G.
  TITLE     cDNA sequence, genomic organization, and evolutionary conservation
            of a novel gene from the WAGR region
  JOURNAL   Genomics 29 (2), 526-532 (1995)
   PUBMED   8666403
REFERENCE   10 (bases 1 to 2562)
  AUTHORS   Schwartz,F., Neve,R., Eisenman,R., Gessler,M. and Bruns,G.
  TITLE     A WAGR region gene between PAX-6 and FSHB expressed in fetal brain
  JOURNAL   Hum Genet 94 (6), 658-664 (1994)
   PUBMED   7527372
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136088.10, AL356240.15 and
            AL353699.6.
            
            On or before Jan 22, 2020 this sequence version replaced
            XM_005253110.4, NM_001584.2.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Variants 1 and 3-6 all encode the same 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 :: SRR14038196.3314755.1,
                                           SRR3476690.1084560.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153427 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358117.10/ ENSP00000350833.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-312               AL136088.10        99883-100194
            313-561             AL136088.10        105742-105990
            562-743             AL356240.15        42026-42207
            744-969             AL356240.15        82680-82905
            970-1085            AL353699.6         46524-46639
            1086-1199           AL353699.6         49816-49929
            1200-2562           AL353699.6         52571-53933
FEATURES             Location/Qualifiers
     source          1..2562
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p14.1"
     gene            1..2562
                     /gene="MPPED2"
                     /gene_synonym="239FB; C11orf8"
                     /note="metallophosphoesterase domain containing 2"
                     /db_xref="GeneID:744"
                     /db_xref="HGNC:HGNC:1180"
                     /db_xref="MIM:600911"
     exon            1..312
                     /gene="MPPED2"
                     /gene_synonym="239FB; C11orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            313..561
                     /gene="MPPED2"
                     /gene_synonym="239FB; C11orf8"
                     /inference="alignment:Splign:2.1.0"
     CDS             434..1318
                     /gene="MPPED2"
                     /gene_synonym="239FB; C11orf8"
                     /note="isoform 1 is encoded by transcript variant 1; fetal
                     brain protein 239; metallophosphoesterase MPPED2;
                     metallophosphoesterase domain-containing protein 2"
                     /codon_start=1
                     /product="metallophosphoesterase MPPED2 isoform 1"
                     /protein_id="NP_001575.1"
                     /db_xref="CCDS:CCDS7870.1"
                     /db_xref="GeneID:744"
                     /db_xref="HGNC:HGNC:1180"
                     /db_xref="MIM:600911"
                     /translation="MAHGIPSQGKVTITVDEYSSNPTQAFTHYNINQSRFQPPHVHMV
                     DPIPYDTPKPAGHTRFVCISDTHSRTDGIQMPYGDILLHTGDFTELGLPSEVKKFNDW
                     LGNLPYEYKIVIAGNHELTFDKEFMADLVKQDYYRFPSVSKLKPEDFDNVQSLLTNSI
                     YLQDSEVTVKGFRIYGAPWTPWFNGWGFNLPRGQSLLDKWNLIPEGIDILMTHGPPLG
                     FRDWVPKELQRVGCVELLNTVQRRVRPKLHVFGGIHEGYGIMTDGYTTYINASTCTVS
                     FQPTNPPIIFDLPNPQGS"
     exon            562..743
                     /gene="MPPED2"
                     /gene_synonym="239FB; C11orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            744..969
                     /gene="MPPED2"
                     /gene_synonym="239FB; C11orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1085
                     /gene="MPPED2"
                     /gene_synonym="239FB; C11orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1199
                     /gene="MPPED2"
                     /gene_synonym="239FB; C11orf8"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..2562
                     /gene="MPPED2"
                     /gene_synonym="239FB; C11orf8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2540..2545
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPPED2"
                     /gene_synonym="239FB; C11orf8"
                     /note="hexamer: AATAAA"
     polyA_site      2562
                     /gene="MPPED2"
                     /gene_synonym="239FB; C11orf8"
                     /note="major polyA site"
ORIGIN      
        1 actgcaccgc tcgctctccc tccggctcgc cgcgccctcg ctccctctcc tcgccccctc
       61 gctcgctctc tccccagatc gaggctgctc gggtcctttc tccccccgcc tccctctagc
      121 gccgcgcccc ctggccccca gccccagcct gcggcgggac ctccggggtc gaaggttctg
      181 gcccgctcgc gcccctcgcc gcccccgcgc gcccccagcg ctcctccagc cggctcgggc
      241 cgctcggcta tggatcgcct gctcgccggg cgctgaaggc atccccggga tccggagcgc
      301 agcccgggaa agaaatgcac agcggtattg atgagtagat ccttggattc agaggttggc
      361 tgaaacgcac catgcctgct tccatctttt gctctgtaaa gttgtgaatt gctcatgcct
      421 atagggagga aggatggcac atgggattcc ttctcaaggc aaagttacca taacggtgga
      481 tgagtacagc tcaaacccca cccaggcatt cacgcactac aacatcaacc agagcagatt
      541 ccagcctcca catgtacata tggtcgaccc catcccatat gacactccaa aaccagcggg
      601 ccacacgcgg tttgtctgca tctcagacac acactccaga acagatggta tccagatgcc
      661 ttatggggac atccttctcc acacaggcga tttcaccgag ctgggactgc cctcagaggt
      721 taagaagttt aatgactggt taggaaacct gccatatgaa tataaaatag tgattgctgg
      781 gaatcatgaa ctgacatttg ataaggaatt catggcagac cttgttaaac aggactacta
      841 ccgtttcccc tctgtgtcca aattgaaacc agaggacttt gacaatgttc agtccctcct
      901 gacaaacagt atttacttac aagattcgga ggtaacagtg aagggattca ggatatacgg
      961 tgcaccttgg accccgtggt ttaatggatg gggctttaac ctacccagag gtcagtctct
     1021 gctggacaag tggaacctca tccctgaggg cattgacata ctcatgacac atggacctcc
     1081 tctaggtttt cgagactggg ttccaaagga gcttcaaaga gtgggctgtg tggagctgtt
     1141 aaacacggtt cagaggcgag tccggcccaa gctccatgtg tttggtggaa tccatgaagg
     1201 ttatggcatc atgaccgacg gttacacaac gtacatcaat gcctcgacgt gtacagtcag
     1261 ctttcaaccg accaaccctc caattatatt tgaccttcca aacccacagg gttcctgaag
     1321 ctctaaatgc cctattggaa tgtgagggaa ggtctataaa ctgccatttt tctaattata
     1381 aacttacatt ctcttactta tttacaaacc ctgtgagttc tttttgtaaa ttgttggaac
     1441 acaaatgatg ctagaggttg tgcttcttat tttattttat tttaaatggg gcatccattt
     1501 gaaatcagag gaacattgtg aatttgtaaa atgacttctg ttttctcaaa ggccatgcca
     1561 ttgtaaattg ttagtgttcg ccaaaggaca gccaagcttt cttttaaaaa gtgataaaag
     1621 tcttatttta atatgcttta agctgaaaga aaaaaaaata agaaacaggc agtgttttaa
     1681 aaaccaacac agatttgcac aactgtttaa gagtattgtt tgaaatattt taattttcaa
     1741 tgttttgttg ttgttgtttt cttggtaatg cttctttttt gcagatgtgg tcccaattta
     1801 tagcaatctt ctcaacagaa gtaggcatgg aaaagacttc ttttcatact ctcactataa
     1861 agaaagctgc attgagaaga aaatggctgt catttaaagg atggtttaac tagtgagatt
     1921 cctattgtgg ttatacaagg tctcattgtt tgtttgtttc ttttaaatta tttcagcttt
     1981 aaaaatacag aaatggaatc tgtcaagagc aggtatttca tacggttaaa aaaatgaaca
     2041 tgcagactcc ttttcaatat gggtttatat atataagtat tttttgtgta ttatgactac
     2101 gttaggagtt tattattgtc aaggacagta caactgcaaa gggatgctgt atagcaacac
     2161 atcagaagtc ggaaggaact gacacattct ctcagagctc aaggtcttaa agagcttgag
     2221 ttaaatctag gtacagttac aggcatgtat agacttaaat ggatgcaatg gaagctaact
     2281 aaaataaggc ttagttgtcc tttctattta aataccccaa gttgtcttct tacttcctct
     2341 cccctctccc attttgcact gtgtgtcgat gcaatcttcg ctagcacaaa atattgtcgc
     2401 taatagtcat ttctgttttc ccattgtaaa tgctgttgag ctttattcta ttttatgtta
     2461 ctttgttaat gaaatttagg aaagcagttg tttctttaaa tttattgtga tattctatat
     2521 ctagcggcct ttatatgcaa ataaaattgc aagattttta aa
//
