LOCUS       NM_000303               2285 bp    mRNA    linear   PRI 06-NOV-2024
DEFINITION  Homo sapiens phosphomannomutase 2 (PMM2), mRNA.
ACCESSION   NM_000303
VERSION     NM_000303.3
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 2285)
  AUTHORS   Radenkovic,S., Budhraja,R., Klein-Gunnewiek,T., King,A.T.,
            Bhatia,T.N., Ligezka,A.N., Driesen,K., Shah,R., Ghesquiere,B.,
            Pandey,A., Kasri,N.N., Sloan,S.A., Morava,E. and Kozicz,T.
  TITLE     Neural and metabolic dysregulation in PMM2-deficient human in vitro
            neural models
  JOURNAL   Cell Rep 43 (3), 113883 (2024)
   PUBMED   38430517
  REMARK    GeneRIF: Neural and metabolic dysregulation in PMM2-deficient human
            in vitro neural models.
REFERENCE   2  (bases 1 to 2285)
  AUTHORS   Epifani,F., Pujol Serra,S.M., Llorens,M., Balcells,S., Nolasco,G.,
            Bolasell,M., Aguilera-Albesa,S., Cancho Candela,R., Cuevas
            Cervera,J.L., Garcia Sanchez,V., Garcia,O., Miranda-Herrero,M.C.,
            Moreno-Lozano,P.J., Robles,B., Roldan Aparicio,S., Velazquez
            Fragua,R. and Serrano,M.
  TITLE     Untangling adaptive functioning of PMM2-CDG across age and its
            impact on parental stress: a cross-sectional study
  JOURNAL   Sci Rep 13 (1), 22783 (2023)
   PUBMED   38129426
  REMARK    GeneRIF: Untangling adaptive functioning of PMM2-CDG across age and
            its impact on parental stress: a cross-sectional study.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2285)
  AUTHORS   Kiparissi,F., Dastamani,A., Palm,L., Azabdaftari,A., Campos,L.,
            Gaynor,E., Grunewald,S., Uhlig,H.H., Kleta,R., Bockenhauer,D. and
            Jones,K.D.J.
  TITLE     Phosphomannomutase 2 (PMM2) variants leading to
            hyperinsulinism-polycystic kidney disease are associated with
            early-onset inflammatory bowel disease and gastric antral foveolar
            hyperplasia
  JOURNAL   Hum Genet 142 (5), 697-704 (2023)
   PUBMED   36773065
  REMARK    GeneRIF: Phosphomannomutase 2 (PMM2) variants leading to
            hyperinsulinism-polycystic kidney disease are associated with
            early-onset inflammatory bowel disease and gastric antral foveolar
            hyperplasia.
REFERENCE   4  (bases 1 to 2285)
  AUTHORS   Yu,F., Lin,L., Sun,J., Pan,J., Liao,Y., Pan,Y., Bai,G., Ma,L.,
            Mao,J. and Hu,L.
  TITLE     Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental
            Stress with Loss of Structural Stability
  JOURNAL   Oxid Med Cell Longev 2023, 5964723 (2023)
   PUBMED   36743691
  REMARK    GeneRIF: Cysteine Pathogenic Variants of PMM2 Are Sensitive to
            Environmental Stress with Loss of Structural Stability.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2285)
  AUTHORS   Matthijs,G., Schollen,E., Pardon,E., Veiga-Da-Cunha,M., Jaeken,J.,
            Cassiman,J.J. and Van Schaftingen,E.
  TITLE     Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13,
            in carbohydrate-deficient glycoprotein type I syndrome (Jaeken
            syndrome)
  JOURNAL   Nat Genet 16 (1), 88-92 (1997)
   PUBMED   9140401
  REMARK    Erratum:[Nat Genet 1997 Jul;16(3):316]
REFERENCE   6  (bases 1 to 2285)
  AUTHORS   Matthijs,G., Schollen,E., Pirard,M., Budarf,M.L., Van
            Schaftingen,E. and Cassiman,J.J.
  TITLE     PMM (PMM1), the human homologue of SEC53 or yeast
            phosphomannomutase, is localized on chromosome 22q13
  JOURNAL   Genomics 40 (1), 41-47 (1997)
   PUBMED   9070917
REFERENCE   7  (bases 1 to 2285)
  AUTHORS   Martinsson,T., Bjursell,C., Stibler,H., Kristiansson,B., Skovby,F.,
            Jaeken,J., Blennow,G., Stromme,P., Hanefeld,F. and Wahlstrom,J.
  TITLE     Linkage of a locus for carbohydrate-deficient glycoprotein syndrome
            type I (CDG1) to chromosome 16p, and linkage disequilibrium to
            microsatellite marker D16S406
  JOURNAL   Hum Mol Genet 3 (11), 2037-2042 (1994)
   PUBMED   7874123
REFERENCE   8  (bases 1 to 2285)
  AUTHORS   Gillis,D.
  TITLE     Nonsyndromic Genetic Hyperinsulinism Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301549
REFERENCE   9  (bases 1 to 2285)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
REFERENCE   10 (bases 1 to 2285)
  AUTHORS   Lam,C. and Krasnewich,D.M.
  TITLE     PMM2-CDG
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301289
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC366756.1, AK291537.1,
            AB209659.1, BF811414.1 and BC008310.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000303.2.
            
            Summary: The protein encoded by this gene catalyzes the
            isomerization of mannose 6-phosphate to mannose 1-phosphate, which
            is a precursor to GDP-mannose necessary for the synthesis of
            dolichol-P-oligosaccharides. Mutations in this gene have been shown
            to cause defects in glycoprotein biosynthesis, which manifests as
            carbohydrate-deficient glycoprotein syndrome type I. [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 :: SRR1163655.182499.1, KY814483.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000268261.9/ ENSP00000268261.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-545               DC366756.1         34-578
            546-1007            AK291537.1         543-1004
            1008-1575           AB209659.1         4132-4699
            1576-1672           BF811414.1         229-325
            1673-2285           BC008310.1         1641-2253
FEATURES             Location/Qualifiers
     source          1..2285
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.2"
     gene            1..2285
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /note="phosphomannomutase 2"
                     /db_xref="GeneID:5373"
                     /db_xref="HGNC:HGNC:9115"
                     /db_xref="MIM:601785"
     exon            1..110
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /inference="alignment:Splign:2.1.0"
     CDS             45..785
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /EC_number="5.4.2.8"
                     /note="phosphomannose isomerase 1; mannose-6-phosphate
                     isomerase"
                     /codon_start=1
                     /product="phosphomannomutase 2"
                     /protein_id="NP_000294.1"
                     /db_xref="CCDS:CCDS10536.1"
                     /db_xref="GeneID:5373"
                     /db_xref="HGNC:HGNC:9115"
                     /db_xref="MIM:601785"
                     /translation="MAAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLRQKIKIGVV
                     GGSDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINY
                     CLSYIAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEERIEFYELDKKENIRQKFVAD
                     LRKEFAGKGLTFSIGGQISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKTMPGGNDH
                     EIFTDPRTMGYSVTAPEDTRRICELLFS"
     exon            111..222
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /inference="alignment:Splign:2.1.0"
     exon            223..299
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /inference="alignment:Splign:2.1.0"
     exon            300..391
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /inference="alignment:Splign:2.1.0"
     exon            392..491
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /inference="alignment:Splign:2.1.0"
     exon            492..567
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /inference="alignment:Splign:2.1.0"
     exon            568..683
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /inference="alignment:Splign:2.1.0"
     exon            684..2285
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2266..2271
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /note="hexamer: ATTAAA"
     polyA_site      2285
                     /gene="PMM2"
                     /gene_synonym="CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2"
                     /note="major polyA site"
ORIGIN      
        1 ctcgtgccaa cgtgtcttgt aaggtgcggc tagaaactgg ggacatggca gcgcctggcc
       61 cagcgctctg cctcttcgac gtggatggga ccctcaccgc cccgcggcag aaaattacca
      121 aagaaatgga tgacttccta caaaaattga ggcagaagat caaaatcgga gtggtaggcg
      181 gatcggactt tgagaaagtg caggagcaac tgggaaatga tgtggttgaa aaatacgatt
      241 atgtgtttcc agaaaatggc ttggtagcat acaaagatgg gaaactcttg tgtagacaga
      301 atattcaaag tcatctgggt gaggccctaa tccaagattt aatcaactac tgtctgagct
      361 acattgcgaa aattaaactc ccgaagaaga ggggtacttt cattgaattc cgaaatggga
      421 tgttaaacgt gtcccctatt ggaagaagct gcagccaaga agaacgcatt gagttctacg
      481 aactcgataa aaaagaaaat ataagacaaa agtttgtagc agatctacgg aaagagtttg
      541 ctggaaaagg cctcacgttt tccataggag gccagatcag ctttgatgtc tttcctgatg
      601 gatgggacaa gagatactgt ctgcgacatg tggaaaatga cggttataag accatttatt
      661 tctttggaga caaaactatg ccaggtggca atgaccatga gatcttcaca gaccccagaa
      721 ccatgggcta ctccgtgaca gcgcctgagg acacgcgcag gatctgtgaa ctgctgttct
      781 cctaacgtgg gagcgggagg ggcggggtcc cggctgacaa gccagcatag ggcattcggt
      841 ggccagagcc gagggtcctc ccacacgtgc tcacccaccc gcagcctagg caggctctgc
      901 atgctatgcc aggcatgtgc agtctggact tccacctcca gtgccagaaa cttccagaag
      961 gaaggagaaa actcttgtca agaatggccc agaggaatgc ctcgcacaaa aggtcttccc
     1021 cacccacccc cagcccccta gtctaatacc caccctgata cgtgcaatca tgtagttttg
     1081 gcggaaattt ccccatcatt ctaggatgat acagaaagaa aaactgtgcc tggaccctcc
     1141 ctcttggtgg gtctgtggaa acataagcgg tttttttaat gggcccctgc atcaatacca
     1201 aacatggggg tttggtaatg agaaaccagg acaggccatc tgcagtgacc cagcccagga
     1261 cgaagtttac aaacacctcc tggaacgaag ctcccgcctg catgtcacct tgatgggggc
     1321 tgtgagtggg gcagtgtgat acccagtgac tagacgcact ctgcgttttc ccgtgtttgg
     1381 ggctgaggcc tgctggacag atggctggcc aagtgggagc agaccctagg gagtttgcac
     1441 ctcggctggg ccggattcgg accggctctg tgttcactac actcagaata gcctggctgc
     1501 ttctctgtct ccgagaccgg aggtagtggg aaccaacagc tgggctggag agttggtgct
     1561 ggcaaaacag tccttgccct ggggccggtt cttacccagg tccagagaaa ccaacgcggg
     1621 atgtcagact tcaccaaaag gactttctgg ttgcccctgg ctggcttcct ggaggcgttc
     1681 gcctctagtt tctcagggat ggagcgagag cccagccaga gaacagtaag aggagctgct
     1741 ctcctatctg cactcaccca ggccttcacc cagactttac cacggaggcg gctgagtgca
     1801 gctacagcta ggtccgcgtc cctcactctt ttcatcttct gcacgttctt cgtgaaactg
     1861 gaaggatccc gggtctcagc tagaacacgg tggaagagaa ctttcctagg aaacggttca
     1921 tgtgtcactt ttcaggatgt ggaaacactg agccatacac cctccattgc ttggtgctgg
     1981 ggttgtgtgg cctccactgg gcacttgccg acctgagtct ggggccaggg gagcccaggc
     2041 tgccctgcac tcctgcctcc cagcccacag ccaggtgctt tcatcacagc taaacctggt
     2101 tccctccaaa cctcccagcc actcgggctt gtaactgtct gagccccgga tccggtgggg
     2161 tgaaagcagc cagctcatcc cagtgactca caggacacag ccatccagcg gcatctttcc
     2221 ttgtcgaatg atactgtaat gaccttccaa agtgaagagt agcacattaa agtgatttta
     2281 ttgtt
//
