LOCUS       NM_018290               3211 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens phosphoglucomutase 2 (PGM2), mRNA.
ACCESSION   NM_018290
VERSION     NM_018290.4
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 3211)
  AUTHORS   Hecker,J., Chun,S., Samiei,A., Liu,C., Laurie,C., Kachroo,P.,
            Lutz,S.M., Lee,S., Smith,A.V., Lasky-Su,J., Cho,M.H., Sharma,S.,
            Soto Quiros,M.E., Avila,L., Celedon,J.C., Raby,B., Zhou,X.,
            Silverman,E.K., DeMeo,D.L., Lange,C. and Weiss,S.T.
  CONSRTM   NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
  TITLE     FGF20 and PGM2 variants are associated with childhood asthma in
            family-based whole-genome sequencing studies
  JOURNAL   Hum Mol Genet 32 (4), 696-707 (2023)
   PUBMED   36255742
  REMARK    GeneRIF: FGF20 and PGM2 variants are associated with childhood
            asthma in family-based whole-genome sequencing studies.
REFERENCE   2  (bases 1 to 3211)
  AUTHORS   Katsogiannou,M., Andrieu,C., Baylot,V., Baudot,A., Dusetti,N.J.,
            Gayet,O., Finetti,P., Garrido,C., Birnbaum,D., Bertucci,F., Brun,C.
            and Rocchi,P.
  TITLE     The functional landscape of Hsp27 reveals new cellular processes
            such as DNA repair and alternative splicing and proposes novel
            anticancer targets
  JOURNAL   Mol Cell Proteomics 13 (12), 3585-3601 (2014)
   PUBMED   25277244
REFERENCE   3  (bases 1 to 3211)
  AUTHORS   Lee,O.H., Kim,H., He,Q., Baek,H.J., Yang,D., Chen,L.Y., Liang,J.,
            Chae,H.K., Safari,A., Liu,D. and Songyang,Z.
  TITLE     Genome-wide YFP fluorescence complementation screen identifies new
            regulators for telomere signaling in human cells
  JOURNAL   Mol Cell Proteomics 10 (2), M110.001628 (2011)
   PUBMED   21044950
REFERENCE   4  (bases 1 to 3211)
  AUTHORS   Maliekal,P., Sokolova,T., Vertommen,D., Veiga-da-Cunha,M. and Van
            Schaftingen,E.
  TITLE     Molecular identification of mammalian phosphopentomutase and
            glucose-1,6-bisphosphate synthase, two members of the
            alpha-D-phosphohexomutase family
  JOURNAL   J Biol Chem 282 (44), 31844-31851 (2007)
   PUBMED   17804405
  REMARK    GeneRIF: In the present work, phosphopentomutase was purified from
            human erythrocytes and found it to copurify with a 68-kDa
            polypeptide that was identified by mass spectrometry as PGM2,
            sharing about 20% identity with mammalian phosphoglucomutase 1.
REFERENCE   5  (bases 1 to 3211)
  AUTHORS   Gevaert,K., Goethals,M., Martens,L., Van Damme,J., Staes,A.,
            Thomas,G.R. and Vandekerckhove,J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
REFERENCE   6  (bases 1 to 3211)
  AUTHORS   Sparkes,R.S., Mohandas,T., Sparkes,M.C. and Shulkin,J.D.
  TITLE     Regional localization of human phosphoglucomutase-2 locus on
            chromosome 4
  JOURNAL   Exp Cell Res 111 (2), 492-495 (1978)
   PUBMED   564278
REFERENCE   7  (bases 1 to 3211)
  AUTHORS   Sparkes,R.S., Mohandas,T., Sparkes,M.C. and Shulkin,J.D.
  TITLE     Human PGM2 (E.C. 2.7.5.1) mapped to 4pter leads to 4q25
  JOURNAL   Cytogenet Cell Genet 22 (1-6), 406-407 (1978)
   PUBMED   752512
REFERENCE   8  (bases 1 to 3211)
  AUTHORS   Francke,U. and Brown,S.
  TITLE     Regional assignment of genes for phosphoglucomutase2 and peptidase
            S to 4pter leads to 4q21 in man
  JOURNAL   Cytogenet Cell Genet 22 (1-6), 401-405 (1978)
   PUBMED   752511
REFERENCE   9  (bases 1 to 3211)
  AUTHORS   Wijnen,L.M., Grzeschik,K.H., Pearson,P.L. and Meera Khan,P.
  TITLE     The human PGM-2 and its chromosomal localization in man-mouse
            hybrids
  JOURNAL   Hum Genet 37 (3), 271-278 (1977)
   PUBMED   885546
REFERENCE   10 (bases 1 to 3211)
  AUTHORS   McAlpine,P.J., Mohandas,T., Komarnicki,L., Niewczas-Late,V.,
            Vust,A. and Hamerton,J.L.
  TITLE     Further data on the assignment of the phosphoglucomutase2 (PGM2)
            gene locus to chromosome 4 in man
  JOURNAL   Cytogenet Cell Genet 14 (3-6), 368-369 (1975)
   PUBMED   1192820
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP234074.1, BC010087.2, AF109360.1 and AI955714.1.
            
            On Nov 23, 2018 this sequence version replaced NM_018290.3.
            
            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 :: AF109360.1, SRR5189652.211351.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381967.9/ ENSP00000371393.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-471               BP234074.1         54-524
            472-2053            BC010087.2         438-2019
            2054-2959           AF109360.1         2023-2928
            2960-3211           AI955714.1         11-262              c
FEATURES             Location/Qualifiers
     source          1..3211
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p14"
     gene            1..3211
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /note="phosphoglucomutase 2"
                     /db_xref="GeneID:55276"
                     /db_xref="HGNC:HGNC:8906"
                     /db_xref="MIM:172000"
     exon            1..128
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..1886
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /EC_number="5.4.2.2"
                     /EC_number="5.4.2.7"
                     /note="glucose phosphomutase 2; PGM 2;
                     phosphodeoxyribomutase"
                     /codon_start=1
                     /product="phosphopentomutase"
                     /protein_id="NP_060760.2"
                     /db_xref="CCDS:CCDS3443.1"
                     /db_xref="GeneID:55276"
                     /db_xref="HGNC:HGNC:8906"
                     /db_xref="MIM:172000"
                     /translation="MAAPEGSGLGEDARLDQETAQWLRWDKNSLTLEAVKRLIAEGNK
                     EELRKCFGARMEFGTAGLRAAMGPGISRMNDLTIIQTTQGFCRYLEKQFSDLKQKGIV
                     ISFDARAHPSSGGSSRRFARLAATTFISQGIPVYLFSDITPTPFVPFTVSHLKLCAGI
                     MITASHNPKQDNGYKVYWDNGAQIISPHDKGISQAIEENLEPWPQAWDDSLIDSSPLL
                     HNPSASINNDYFEDLKKYCFHRSVNRETKVKFVHTSVHGVGHSFVQSAFKAFDLVPPE
                     AVPEQKDPDPEFPTVKYPNPEEGKGVLTLSFALADKTKARIVLANDPDADRLAVAEKQ
                     DSGEWRVFSGNELGALLGWWLFTSWKEKNQDRSALKDTYMLSSTVSSKILRAIALKEG
                     FHFEETLTGFKWMGNRAKQLIDQGKTVLFAFEEAIGYMCCPFVLDKDGVSAAVISAEL
                     ASFLATKNLSLSQQLKAIYVEYGYHITKASYFICHDQETIKKLFENLRNYDGKNNYPK
                     ACGKFEISAIRDLTTGYDDSQPDKKAVLPTSKSSQMITFTFANGGVATMRTSGTEPKI
                     KYYAELCAPPGNSDPEQLKKELNELVSAIEEHFFQPQKYNLQPKAD"
     exon            129..296
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     exon            297..403
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     exon            404..488
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     exon            489..572
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     exon            573..766
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     exon            767..956
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1054
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1235
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     exon            1236..1329
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1459
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     exon            1460..1649
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     exon            1650..1783
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     exon            1784..3211
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2347..2352
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /note="hexamer: AATAAA"
     polyA_site      2365
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /note="major polyA site"
     regulatory      3194..3199
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
                     /note="hexamer: AAGAAA"
     polyA_site      3211
                     /gene="PGM2"
                     /gene_synonym="MSTP006"
ORIGIN      
        1 agatctcacc gcctgcttcc ctctgcagcg gtagcacaag ctcagcgatg gcggctccag
       61 aaggcagcgg tctaggcgag gacgcccggc tggaccagga gaccgcccag tggctgcgct
      121 gggacaagaa ttccttaact ttggaggcag tgaaacgact aatagcagaa ggtaataaag
      181 aagaactacg aaaatgtttt ggggcccgaa tggagtttgg gacagctggc ctccgagctg
      241 ctatgggacc tggaatttct cgtatgaatg acttgaccat catccagact acacagggat
      301 tttgcagata cctggaaaaa caattcagtg acttaaagca gaaaggcatc gtgatcagtt
      361 ttgacgcccg agctcatcca tccagtgggg gtagcagcag aaggtttgcc cgacttgctg
      421 caaccacatt tatcagtcag gggattcctg tgtacctctt ttctgatata acgccaaccc
      481 cctttgtgcc cttcacagta tcacatttga aactttgtgc tggaatcatg ataactgcat
      541 ctcacaatcc aaagcaggat aatggttata aggtctattg ggataatgga gctcagatca
      601 tttctcctca cgataaaggg atttctcaag ctattgaaga aaatctagaa ccgtggcctc
      661 aagcttggga cgattcttta attgatagca gtccacttct ccacaatccg agtgcttcca
      721 tcaataatga ctactttgaa gaccttaaaa agtactgttt ccacaggagc gtgaacaggg
      781 agacaaaggt gaagtttgtg cacacctctg tccatggggt gggtcatagc tttgtgcagt
      841 cagctttcaa ggcttttgac cttgttcctc ctgaggctgt tcctgaacag aaagatccgg
      901 atcctgagtt tccaacagtg aaatacccga atcccgaaga ggggaaaggt gtcttgactt
      961 tgtcttttgc tttggctgac aaaaccaagg ccagaattgt tttagctaac gacccggatg
     1021 ctgatagact tgctgtggca gaaaagcaag acagtggtga atggagggtg ttttcaggca
     1081 atgagttggg ggccctcctg ggctggtggc tttttacatc ttggaaagag aagaaccagg
     1141 atcgcagtgc tctcaaagac acgtacatgt tgtccagcac cgtctcctcc aaaatcttgc
     1201 gggccattgc cttaaaggaa ggttttcatt ttgaggaaac attaactggc tttaagtgga
     1261 tgggaaacag agccaaacag ctaatagacc aggggaaaac tgttttattt gcatttgaag
     1321 aagctattgg atacatgtgc tgcccttttg ttctggacaa agatggagtc agtgccgctg
     1381 tcataagtgc agagttggct agcttcctag caaccaagaa tttgtctttg tctcagcaac
     1441 taaaggccat ttatgtggag tatggctacc atattactaa agcttcctat tttatctgcc
     1501 atgatcaaga aaccattaag aaattatttg aaaacctcag aaactacgat ggaaaaaata
     1561 attatccaaa agcttgtggc aaatttgaaa tttctgccat tagggacctt acaactggct
     1621 atgatgatag ccaacctgat aaaaaagctg ttcttcccac tagtaaaagc agccaaatga
     1681 tcaccttcac ctttgctaat ggaggcgtgg ccaccatgcg caccagtggg acagagccca
     1741 aaatcaagta ctatgcagag ctgtgtgccc cacctgggaa cagtgatcct gagcagctga
     1801 agaaggaact gaatgaactg gtcagtgcta ttgaagaaca ttttttccag ccacagaagt
     1861 acaatctgca gccaaaagca gactaaaata gtccagcctt gggtatactt gcatttacct
     1921 acaattaagc tgggtttaac ttgttaagca atatttttaa gggccaaatg attcaaaaca
     1981 tcacaggtat ttatgtgttt tacaaagacc tacattcctc attgtttcat gtttgacctt
     2041 taaggtgaaa aaagaaaatg gccaaaccca acaaactaac attcctacta aaaagttgag
     2101 cttggacata ttttgaattt ttgtaagtga agatttttaa actgactaac ttaaaaaaat
     2161 agattgtaat tgatgtgcct taatttgcat aaatcataaa tgtatgtcct ctctgtaatt
     2221 gttttaatgt gtgcttgaaa tatccagaaa acctatggag ttagtaaatt ctgggctgtc
     2281 atatgtagga tagccacttt ttaggtatat gtacatttat atttctatca attccttaga
     2341 aagtaaaata aatgaataga tcaaatgttg tgttcatgtt tggggaaaat ataatttgca
     2401 gaaacctatg aagtagagca aagatgcttt aaaaagataa gtttttttga actaaatttt
     2461 ttttagttct aataatgcac ataggatatt agtacatcgt acacgtgcta ggaaaaaaca
     2521 gcttcagtgt ctttgtttaa tgtgttgaaa ctcatctttt taaatcttga aaaaccaatt
     2581 gtttacttga aacttgaaag tagcatattt ttctgttttt tggttgtttg ttcatttgta
     2641 ttagcacaat ttaatgtaat tcctggtttg gaggcagcaa gacctatgag caagaactat
     2701 ttacttgacc ctcgtttttt tctcttgttc ttgtgtggtc tgaaatctaa aactagactt
     2761 tattatgata gatttcctat aagccaattt ctaataacaa atagatttat tatttaatct
     2821 gtaccttcta tcttctcata attcgtggtc ttacagcctt ccaaaataac tccagttggg
     2881 cacccatgag ctaggatcaa actttcttta tatactttat atattttaca ttatttctga
     2941 tttttaaagc aaatgattgc cattatgatt acactcaacc taaatagtta tgaacagttt
     3001 cagaacaatg aaaaattaca atactatgtg atagtattgt aactattttt ctattttagt
     3061 catatgtcgc ttatatccta ccagaactct taaatctata atattcgata tattctacaa
     3121 actgctttat tgtagaagcc atatttatgt ttattttata atgttttcta gtgtcaaact
     3181 gtactgtgga gaaaagaaat gttagatctg t
//
