LOCUS       NM_000884               1651 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens inosine monophosphate dehydrogenase 2 (IMPDH2),
            transcript variant 2, mRNA.
ACCESSION   NM_000884
VERSION     NM_000884.3
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 1651)
  AUTHORS   Flores-Mendez,M., Ohl,L., Roule,T., Zhou,Y., Tintos-Hernandez,J.A.,
            Walsh,K., Ortiz-Gonzalez,X.R. and Akizu,N.
  TITLE     IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency
  JOURNAL   EMBO Rep 25 (9), 3990-4012 (2024)
   PUBMED   39075237
  REMARK    GeneRIF: IMPDH2 filaments protect from neurodegeneration in AMPD2
            deficiency.
REFERENCE   2  (bases 1 to 1651)
  AUTHORS   Li,L., Wu,Y., Huang,H.T., Yong,J.K., Lv,Z., Zhou,Y., Xiang,X.,
            Zhao,J., Xi,Z., Feng,H. and Xia,Q.
  TITLE     IMPDH2 suppression impedes cell proliferation by instigating cell
            cycle arrest and stimulates apoptosis in pediatric hepatoblastoma
  JOURNAL   J Cancer Res Clin Oncol 150 (8), 377 (2024)
   PUBMED   39085725
  REMARK    GeneRIF: IMPDH2 suppression impedes cell proliferation by
            instigating cell cycle arrest and stimulates apoptosis in pediatric
            hepatoblastoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1651)
  AUTHORS   Huang,Y., Chan,S., Chen,S., Liu,X., Li,M., Zheng,L., Dong,Z.,
            Yang,Z., Liu,Z., Zhou,D., Zhang,X. and Zhang,B.
  TITLE     Wnt/beta-catenin signalling activates IMPDH2-mediated purine
            metabolism to facilitate oxaliplatin resistance by inhibiting
            caspase-dependent apoptosis in colorectal cancer
  JOURNAL   J Transl Med 22 (1), 133 (2024)
   PUBMED   38310229
  REMARK    GeneRIF: Wnt/beta-catenin signalling activates IMPDH2-mediated
            purine metabolism to facilitate oxaliplatin resistance by
            inhibiting caspase-dependent apoptosis in colorectal cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1651)
  AUTHORS   Gao,G., Xue,Q., He,J., Wu,M., Jiang,Y., Li,Q., Zhang,Y. and Shi,W.
  TITLE     Single-cell RNA sequencing in double-hit lymphoma: IMPDH2 induces
            the progression of lymphoma by activating the PI3K/AKT/mTOR
            signaling pathway
  JOURNAL   Int Immunopharmacol 125 (Pt A), 111125 (2023)
   PUBMED   37907047
  REMARK    GeneRIF: Single-cell RNA sequencing in double-hit lymphoma: IMPDH2
            induces the progression of lymphoma by activating the PI3K/AKT/mTOR
            signaling pathway.
            Erratum:[Int Immunopharmacol. 2024 Jan 5;126:111292. doi:
            10.1016/j.intimp.2023.111292.. PMID: 38042635]
REFERENCE   5  (bases 1 to 1651)
  AUTHORS   O'Neill,A.G., Burrell,A.L., Zech,M., Elpeleg,O., Harel,T.,
            Edvardson,S., Mor-Shaked,H., Rippert,A.L., Nomakuchi,T., Izumi,K.
            and Kollman,J.M.
  TITLE     Neurodevelopmental disorder mutations in the purine biosynthetic
            enzyme IMPDH2 disrupt its allosteric regulation
  JOURNAL   J Biol Chem 299 (8), 105012 (2023)
   PUBMED   37414152
  REMARK    GeneRIF: Neurodevelopmental disorder mutations in the purine
            biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
REFERENCE   6  (bases 1 to 1651)
  AUTHORS   Hager,P.W., Collart,F.R., Huberman,E. and Mitchell,B.S.
  TITLE     Recombinant human inosine monophosphate dehydrogenase type I and
            type II proteins. Purification and characterization of inhibitor
            binding
  JOURNAL   Biochem Pharmacol 49 (9), 1323-1329 (1995)
   PUBMED   7763314
REFERENCE   7  (bases 1 to 1651)
  AUTHORS   Zimmermann,A.G., Spychala,J. and Mitchell,B.S.
  TITLE     Characterization of the human inosine-5'-monophosphate
            dehydrogenase type II gene
  JOURNAL   J Biol Chem 270 (12), 6808-6814 (1995)
   PUBMED   7896827
REFERENCE   8  (bases 1 to 1651)
  AUTHORS   Zalkin,H. and Dixon,J.E.
  TITLE     De novo purine nucleotide biosynthesis
  JOURNAL   Prog Nucleic Acid Res Mol Biol 42, 259-287 (1992)
   PUBMED   1574589
  REMARK    Review article
REFERENCE   9  (bases 1 to 1651)
  AUTHORS   Natsumeda,Y., Ohno,S., Kawasaki,H., Konno,Y., Weber,G. and
            Suzuki,K.
  TITLE     Two distinct cDNAs for human IMP dehydrogenase
  JOURNAL   J Biol Chem 265 (9), 5292-5295 (1990)
   PUBMED   1969416
REFERENCE   10 (bases 1 to 1651)
  AUTHORS   Collart,F.R. and Huberman,E.
  TITLE     Cloning and sequence analysis of the human and Chinese hamster
            inosine-5'-monophosphate dehydrogenase cDNAs
  JOURNAL   J Biol Chem 263 (30), 15769-15772 (1988)
   PUBMED   2902093
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC137630.9, J04208.1 and
            BC009236.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000884.2.
            
            Summary: This gene encodes the rate-limiting enzyme in the de novo
            guanine nucleotide biosynthesis. It is thus involved in maintaining
            cellular guanine deoxy- and ribonucleotide pools needed for DNA and
            RNA synthesis. The encoded protein catalyzes the NAD-dependent
            oxidation of inosine-5'-monophosphate into
            xanthine-5'-monophosphate, which is then converted into
            guanosine-5'-monophosphate. This gene is up-regulated in some
            neoplasms, suggesting it may play a role in malignant
            transformation. [provided by RefSeq, Jul 2008].
            
            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 :: GQ900937.1, BC006124.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326739.9/ ENSP00000321584.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 AC137630.9         77859-77867         c
            10-614              J04208.1           9-613
            615-619             BC009236.2         598-602
            620-1646            J04208.1           619-1645
            1647-1651           BC009236.2         1629-1633
FEATURES             Location/Qualifiers
     source          1..1651
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1651
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /note="inosine monophosphate dehydrogenase 2"
                     /db_xref="GeneID:3615"
                     /db_xref="HGNC:HGNC:6053"
                     /db_xref="MIM:146691"
     exon            1..146
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..1593
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /EC_number="1.1.1.205"
                     /note="isoform 2 is encoded by transcript variant 2; IMP
                     (inosine monophosphate) dehydrogenase 2; IMP oxireductase
                     2; epididymis secretory sperm binding protein; IMP
                     dehydrogenase II; inosine-5'-monophosphate dehydrogenase
                     type II; inosine 5' phosphate dehydrogenase 2;
                     inosine-5'-monophosphate dehydrogenase 2; IMP (inosine
                     5'-monophosphate) dehydrogenase 2; inosine monophosphate
                     dehydrogenase type II; IMPD 2; IMPDH 2"
                     /codon_start=1
                     /product="inosine-5'-monophosphate dehydrogenase 2 isoform
                     2"
                     /protein_id="NP_000875.2"
                     /db_xref="CCDS:CCDS2786.1"
                     /db_xref="GeneID:3615"
                     /db_xref="HGNC:HGNC:6053"
                     /db_xref="MIM:146691"
                     /translation="MADYLISGGTSYVPDDGLTAQQLFNCGDGLTYNDFLILPGYIDF
                     TADQVDLTSALTKKITLKTPLVSSPMDTVTEAGMAIAMALTGGIGFIHHNCTPEFQAN
                     EVRKVKKYEQGFITDPVVLSPKDRVRDVFEAKARHGFCGIPITDTGRMGSRLVGIISS
                     RDIDFLKEEEHDCFLEEIMTKREDLVVAPAGITLKEANEILQRSKKGKLPIVNEDDEL
                     VAIIARTDLKKNRDYPLASKDAKKQLLCGAAIGTHEDDKYRLDLLAQAGVDVVVLDSS
                     QGNSIFQINMIKYIKDKYPNLQVIGGNVVTAAQAKNLIDAGVDALRVGMGSGSICITQ
                     EVLACGRPQATAVYKVSEYARRFGVPVIADGGIQNVGHIAKALALGASTVMMGSLLAA
                     TTEAPGEYFFSDGIRLKKYRGMGSLDAMDKHLSSQNRYFSEADKIKVAQGVSGAVQDK
                     GSIHKFVPYLIAGIQHSCQDIGAKSLTQVRAMMYSGELKFEKRTSSAQVEGGVHSLHS
                     YEKRLF"
     exon            147..195
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     exon            196..297
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     exon            298..372
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     exon            373..579
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     exon            580..667
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     exon            668..867
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     exon            868..958
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1054
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1198
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     exon            1199..1343
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..1487
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     exon            1488..1571
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1651
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1629..1634
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /note="hexamer: AATAAA"
     polyA_site      1651
                     /gene="IMPDH2"
                     /gene_synonym="IMPD2; IMPDH-II"
                     /note="major polyA site"
ORIGIN      
        1 ctctgcggcg cggtcctcgg agacacgcgg cggtgtcctg tgttggccat ggccgactac
       61 ctgattagtg ggggcacgtc ctacgtgcca gacgacggac tcacagcaca gcagctcttc
      121 aactgcggag acggcctcac ctacaatgac tttctcattc tccctgggta catcgacttc
      181 actgcagacc aggtggacct gacttctgct ctgaccaaga aaatcactct taagacccca
      241 ctggtttcct ctcccatgga cacagtcaca gaggctggga tggccatagc aatggcgctt
      301 acaggcggta ttggcttcat ccaccacaac tgtacacctg aattccaggc caatgaagtt
      361 cggaaagtga agaaatatga acagggattc atcacagacc ctgtggtcct cagccccaag
      421 gatcgcgtgc gggatgtttt tgaggccaag gcccggcatg gtttctgcgg tatcccaatc
      481 acagacacag gccggatggg gagccgcttg gtgggcatca tctcctccag ggacattgat
      541 tttctcaaag aggaggaaca tgactgtttc ttggaagaga taatgacaaa gagggaagac
      601 ttggtggtag cccctgcagg catcacactg aaggaggcaa atgaaattct gcagcgcagc
      661 aagaagggaa agttgcccat tgtaaatgaa gatgatgagc ttgtggccat cattgcccgg
      721 acagacctga agaagaatcg ggactaccca ctagcctcca aagatgccaa gaaacagctg
      781 ctgtgtgggg cagccattgg cactcatgag gatgacaagt ataggctgga cttgctcgcc
      841 caggctggtg tggatgtagt ggttttggac tcttcccagg gaaattccat cttccagatc
      901 aatatgatca agtacatcaa agacaaatac cctaatctcc aagtcattgg aggcaatgtg
      961 gtcactgctg cccaggccaa gaacctcatt gatgcaggtg tggatgccct gcgggtgggc
     1021 atgggaagtg gctccatctg cattacgcag gaagtgctgg cctgtgggcg gccccaagca
     1081 acagcagtgt acaaggtgtc agagtatgca cggcgctttg gtgttccggt cattgctgat
     1141 ggaggaatcc aaaatgtggg tcatattgcg aaagccttgg cccttggggc ctccacagtc
     1201 atgatgggct ctctcctggc tgccaccact gaggcccctg gtgaatactt cttttccgat
     1261 gggatccggc taaagaaata tcgcggtatg ggttctctcg atgccatgga caagcacctc
     1321 agcagccaga acagatattt cagtgaagct gacaaaatca aagtggccca gggagtgtct
     1381 ggtgctgtgc aggacaaagg gtcaatccac aaatttgtcc cttacctgat tgctggcatc
     1441 caacactcat gccaggacat tggtgccaag agcttgaccc aagtccgagc catgatgtac
     1501 tctggggagc ttaagtttga gaagagaacg tcctcagccc aggtggaagg tggcgtccat
     1561 agcctccatt cgtatgagaa gcggcttttc tgaaaaggga tccagcacac ctcctcggtt
     1621 tttttttcaa taaaagttta gaaagaaaaa a
//
