LOCUS       NM_000251               3115 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens mutS homolog 2 (MSH2), transcript variant 1, mRNA.
ACCESSION   NM_000251
VERSION     NM_000251.3
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 3115)
  AUTHORS   Tu,X., Zhang,H. and Ren,H.
  TITLE     LINC01232 targeting miR-1250-3p/MSH2 axis attenuates mesangial cell
            proliferation and fibrosis in diabetic nephropathy
  JOURNAL   Mol Cell Biochem 479 (8), 2093-2103 (2024)
   PUBMED   37642881
  REMARK    GeneRIF: LINC01232 targeting miR-1250-3p/MSH2 axis attenuates
            mesangial cell proliferation and fibrosis in diabetic nephropathy.
REFERENCE   2  (bases 1 to 3115)
  AUTHORS   Li,M., Yan,X., Liu,H., Miao,W., Wu,W., Zhao,Y., Wang,C. and Liu,H.
  TITLE     Novel MSH2 and TSC2 variants in a Chinese family with Lynch
            syndrome and their synergistic impact in urothelial carcinoma
  JOURNAL   Transl Res 265, 26-35 (2024)
   PUBMED   37914149
  REMARK    GeneRIF: Novel MSH2 and TSC2 variants in a Chinese family with
            Lynch syndrome and their synergistic impact in urothelial
            carcinoma.
REFERENCE   3  (bases 1 to 3115)
  AUTHORS   Mirabdolhosseini,S.M., Yaghoob Taleghani,M., Rejali,L., Sadeghi,H.,
            Fatemi,N., Tavallaei,M., Famil Meyari,A., Saeidi,N., Ketabi
            Moghadam,P., Sadeghi,A., Asadzadeh Aghdaei,H., Zali,M.R. and
            Nazemalhosseini Mojarad,E.
  TITLE     Rare single-nucleotide variants of MLH1 and MSH2 genes in patients
            with Lynch syndrome
  JOURNAL   Cancer Rep (Hoboken) 7 (1), e1930 (2024)
   PUBMED   37919876
  REMARK    GeneRIF: Rare single-nucleotide variants of MLH1 and MSH2 genes in
            patients with Lynch syndrome.
REFERENCE   4  (bases 1 to 3115)
  AUTHORS   Sharbati,F., Tabriz,H.M. and Nazar,E.
  TITLE     Assessing the role of MSH2 and MSH6 gene expression deficiency in
            prostate cancer progression, a cross-sectional study
  JOURNAL   Cancer Treat Res Commun 40, 100826 (2024)
   PUBMED   38870667
  REMARK    GeneRIF: Assessing the role of MSH2 and MSH6 gene expression
            deficiency in prostate cancer progression, a cross-sectional study.
REFERENCE   5  (bases 1 to 3115)
  AUTHORS   Dutta,P., Pal,D., Roy,A., Mandal,R.K. and Panda,C.K.
  TITLE     Role of MLH1 and MSH2 deficiency in the development of
            tumorigenesis and chemo-tolerance of cervical Carcinoma: Clinical
            implications
  JOURNAL   Gene 888, 147746 (2023)
   PUBMED   37657688
  REMARK    GeneRIF: Role of MLH1 and MSH2 deficiency in the development of
            tumorigenesis and chemo-tolerance of cervical Carcinoma: Clinical
            implications.
REFERENCE   6  (bases 1 to 3115)
  AUTHORS   Wilson,T.M., Ewel,A., Duguid,J.R., Eble,J.N., Lescoe,M.K.,
            Fishel,R. and Kelley,M.R.
  TITLE     Differential cellular expression of the human MSH2 repair enzyme in
            small and large intestine
  JOURNAL   Cancer Res 55 (22), 5146-5150 (1995)
   PUBMED   7585562
REFERENCE   7  (bases 1 to 3115)
  AUTHORS   Wei,Q., Xu,X., Cheng,L., Legerski,R.J. and Ali-Osman,F.
  TITLE     Simultaneous amplification of four DNA repair genes and beta-actin
            in human lymphocytes by multiplex reverse transcriptase-PCR
  JOURNAL   Cancer Res 55 (21), 5025-5029 (1995)
   PUBMED   7585546
REFERENCE   8  (bases 1 to 3115)
  AUTHORS   Drummond,J.T., Li,G.M., Longley,M.J. and Modrich,P.
  TITLE     Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch
            repair to tumor cells
  JOURNAL   Science 268 (5219), 1909-1912 (1995)
   PUBMED   7604264
REFERENCE   9  (bases 1 to 3115)
  AUTHORS   Idos,G. and Valle,L.
  TITLE     Lynch Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301390
REFERENCE   10 (bases 1 to 3115)
  AUTHORS   Lynch,H.T., Schuelke,G.S., Kimberling,W.J., Albano,W.A.,
            Lynch,J.F., Biscone,K.A., Lipkin,M.L., Deschner,E.E., Mikol,Y.B.,
            Sandberg,A.A. et al.
  TITLE     Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and
            II). II. Biomarker studies
  JOURNAL   Cancer 56 (4), 939-951 (1985)
   PUBMED   4016686
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U04045.1, AK304496.1 and
            CB250419.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000251.2.
            
            Summary: This locus is frequently mutated in hereditary
            nonpolyposis colon cancer (HNPCC). When cloned, it was discovered
            to be a human homolog of the E. coli mismatch repair gene mutS,
            consistent with the characteristic alterations in microsatellite
            sequences (RER+ phenotype) found in HNPCC. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Apr 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: BC021566.1, BX649122.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000233146.7/ ENSP00000233146.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2915              U04045.1           33-2947
            2916-3113           AK304496.1         2821-3018
            3114-3115           CB250419.1         23-24               c
FEATURES             Location/Qualifiers
     source          1..3115
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21-p16.3"
     gene            1..3115
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="mutS homolog 2"
                     /db_xref="GeneID:4436"
                     /db_xref="HGNC:HGNC:7325"
                     /db_xref="MIM:609309"
     exon            1..247
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..2841
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="isoform 1 is encoded by transcript variant 1; mutS
                     homolog 2, colon cancer, nonpolyposis type 1; DNA mismatch
                     repair protein Msh2 transcript; MutS-like 2"
                     /codon_start=1
                     /product="DNA mismatch repair protein Msh2 isoform 1"
                     /protein_id="NP_000242.1"
                     /db_xref="CCDS:CCDS1834.1"
                     /db_xref="GeneID:4436"
                     /db_xref="HGNC:HGNC:7325"
                     /db_xref="MIM:609309"
                     /translation="MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYT
                     AHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEV
                     YKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQ
                     VGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQ
                     RGGILITERKKADFSTKDIYQDLNRLLKGKKGEQMNSAVLPEMENQVAVSSLSAVIKF
                     LELLSDDSNFGQFELTTFDFSQYMKLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCK
                     TPQGQRLVNQWIKQPLMDKNRIEERLNLVEAFVEDAELRQTLQEDLLRRFPDLNRLAK
                     KFQRQAANLQDCYRLYQGINQLPNVIQALEKHEGKHQKLLLAVFVTPLTDLRSDFSKF
                     QEMIETTLDMDQVENHEFLVKPSFDPNLSELREIMNDLEKKMQSTLISAARDLGLDPG
                     KQIKLDSSAQFGYYFRVTCKEEKVLRNNKNFSTVDIQKNGVKFTNSKLTSLNEEYTKN
                     KTEYEEAQDAIVKEIVNISSGYVEPMQTLNDVLAQLDAVVSFAHVSNGAPVPYVRPAI
                     LEKGQGRIILKASRHACVEVQDEIAFIPNDVYFEKDKQMFHIITGPNMGGKSTYIRQT
                     GVIVLMAQIGCFVPCESAEVSIVDCILARVGAGDSQLKGVSTFMAEMLETASILRSAT
                     KDSLIIIDELGRGTSTYDGFGLAWAISEYIATKIGAFCMFATHFHELTALANQIPTVN
                     NLHVTALTTEETLTMLYQVKKGVCDQSFGIHVAELANFPKHVIECAKQKALELEEFQY
                     IGESQGYDIMEPAAKKCYLEREQGEKIIQEFLSKVKQMPFTEMSEENITIKLKQLKAE
                     VIAKNNSFVNEIISRIKVTT"
     exon            248..402
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            403..681
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            682..828
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            829..978
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            979..1112
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1312
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1422
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1423..1546
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1547..1697
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1698..1795
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1796..2041
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2042..2246
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2247..2494
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2495..2670
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2671..3115
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3092..3097
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="hexamer: AATAAA"
     polyA_site      3115
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="major polyA site"
ORIGIN      
        1 gcattttctt caaccaggag gtgaggaggt ttcgacatgg cggtgcagcc gaaggagacg
       61 ctgcagttgg agagcgcggc cgaggtcggc ttcgtgcgct tctttcaggg catgccggag
      121 aagccgacca ccacagtgcg ccttttcgac cggggcgact tctatacggc gcacggcgag
      181 gacgcgctgc tggccgcccg ggaggtgttc aagacccagg gggtgatcaa gtacatgggg
      241 ccggcaggag caaagaatct gcagagtgtt gtgcttagta aaatgaattt tgaatctttt
      301 gtaaaagatc ttcttctggt tcgtcagtat agagttgaag tttataagaa tagagctgga
      361 aataaggcat ccaaggagaa tgattggtat ttggcatata aggcttctcc tggcaatctc
      421 tctcagtttg aagacattct ctttggtaac aatgatatgt cagcttccat tggtgttgtg
      481 ggtgttaaaa tgtccgcagt tgatggccag agacaggttg gagttgggta tgtggattcc
      541 atacagagga aactaggact gtgtgaattc cctgataatg atcagttctc caatcttgag
      601 gctctcctca tccagattgg accaaaggaa tgtgttttac ccggaggaga gactgctgga
      661 gacatgggga aactgagaca gataattcaa agaggaggaa ttctgatcac agaaagaaaa
      721 aaagctgact tttccacaaa agacatttat caggacctca accggttgtt gaaaggcaaa
      781 aagggagagc agatgaatag tgctgtattg ccagaaatgg agaatcaggt tgcagtttca
      841 tcactgtctg cggtaatcaa gtttttagaa ctcttatcag atgattccaa ctttggacag
      901 tttgaactga ctacttttga cttcagccag tatatgaaat tggatattgc agcagtcaga
      961 gcccttaacc tttttcaggg ttctgttgaa gataccactg gctctcagtc tctggctgcc
     1021 ttgctgaata agtgtaaaac ccctcaagga caaagacttg ttaaccagtg gattaagcag
     1081 cctctcatgg ataagaacag aatagaggag agattgaatt tagtggaagc ttttgtagaa
     1141 gatgcagaat tgaggcagac tttacaagaa gatttacttc gtcgattccc agatcttaac
     1201 cgacttgcca agaagtttca aagacaagca gcaaacttac aagattgtta ccgactctat
     1261 cagggtataa atcaactacc taatgttata caggctctgg aaaaacatga aggaaaacac
     1321 cagaaattat tgttggcagt ttttgtgact cctcttactg atcttcgttc tgacttctcc
     1381 aagtttcagg aaatgataga aacaacttta gatatggatc aggtggaaaa ccatgaattc
     1441 cttgtaaaac cttcatttga tcctaatctc agtgaattaa gagaaataat gaatgacttg
     1501 gaaaagaaga tgcagtcaac attaataagt gcagccagag atcttggctt ggaccctggc
     1561 aaacagatta aactggattc cagtgcacag tttggatatt actttcgtgt aacctgtaag
     1621 gaagaaaaag tccttcgtaa caataaaaac tttagtactg tagatatcca gaagaatggt
     1681 gttaaattta ccaacagcaa attgacttct ttaaatgaag agtataccaa aaataaaaca
     1741 gaatatgaag aagcccagga tgccattgtt aaagaaattg tcaatatttc ttcaggctat
     1801 gtagaaccaa tgcagacact caatgatgtg ttagctcagc tagatgctgt tgtcagcttt
     1861 gctcacgtgt caaatggagc acctgttcca tatgtacgac cagccatttt ggagaaagga
     1921 caaggaagaa ttatattaaa agcatccagg catgcttgtg ttgaagttca agatgaaatt
     1981 gcatttattc ctaatgacgt atactttgaa aaagataaac agatgttcca catcattact
     2041 ggccccaata tgggaggtaa atcaacatat attcgacaaa ctggggtgat agtactcatg
     2101 gcccaaattg ggtgttttgt gccatgtgag tcagcagaag tgtccattgt ggactgcatc
     2161 ttagcccgag taggggctgg tgacagtcaa ttgaaaggag tctccacgtt catggctgaa
     2221 atgttggaaa ctgcttctat cctcaggtct gcaaccaaag attcattaat aatcatagat
     2281 gaattgggaa gaggaacttc tacctacgat ggatttgggt tagcatgggc tatatcagaa
     2341 tacattgcaa caaagattgg tgctttttgc atgtttgcaa cccattttca tgaacttact
     2401 gccttggcca atcagatacc aactgttaat aatctacatg tcacagcact caccactgaa
     2461 gagaccttaa ctatgcttta tcaggtgaag aaaggtgtct gtgatcaaag ttttgggatt
     2521 catgttgcag agcttgctaa tttccctaag catgtaatag agtgtgctaa acagaaagcc
     2581 ctggaacttg aggagtttca gtatattgga gaatcgcaag gatatgatat catggaacca
     2641 gcagcaaaga agtgctatct ggaaagagag caaggtgaaa aaattattca ggagttcctg
     2701 tccaaggtga aacaaatgcc ctttactgaa atgtcagaag aaaacatcac aataaagtta
     2761 aaacagctaa aagctgaagt aatagcaaag aataatagct ttgtaaatga aatcatttca
     2821 cgaataaaag ttactacgtg aaaaatccca gtaatggaat gaaggtaata ttgataagct
     2881 attgtctgta atagttttat attgttttat attaaccctt tttccatagt gttaactgtc
     2941 agtgcccatg ggctatcaac ttaataagat atttagtaat attttacttt gaggacattt
     3001 tcaaagattt ttattttgaa aaatgagagc tgtaactgag gactgtttgc aattgacata
     3061 ggcaataata agtgatgtgc tgaattttat aaataaaatc atgtagtttg tggaa
//
