LOCUS       NM_001406661            3379 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens mutS homolog 2 (MSH2), transcript variant 33, mRNA.
ACCESSION   NM_001406661
VERSION     NM_001406661.1
KEYWORDS    RefSeq.
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 3379)
  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 3379)
  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 3379)
  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 3379)
  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 3379)
  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 3379)
  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 3379)
  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 3379)
  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 3379)
  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 3379)
  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 AC079775.6 and AC138655.1.
            
            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].
            
            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 :: SRR18074967.630395.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-247               AC079775.6         98145-98391
            248-402             AC079775.6         103390-103544
            403-681             AC079775.6         105083-105361
            682-828             AC079775.6         107403-107549
            829-978             AC079775.6         109258-109407
            979-1112            AC079775.6         111285-111418
            1113-1264           AC079775.6         117123-117274
            1265-1376           AC079775.6         119073-119184
            1377-1576           AC079775.6         124731-124930
            1577-1686           AC079775.6         140537-140646
            1687-1810           AC079775.6         158020-158143
            1811-1961           AC079775.6         161647-161797
            1962-2059           AC079775.6         165954-166051
            2060-2305           AC138655.1         27-272
            2306-2510           AC138655.1         1369-1573
            2511-2758           AC138655.1         3274-3521
            2759-2934           AC138655.1         5698-5873
            2935-3379           AC138655.1         7781-8225
FEATURES             Location/Qualifiers
     source          1..3379
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21-p16.3"
     gene            1..3379
                     /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"
     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..1264
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..1376
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1377..1576
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1577..1686
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             1657..3105
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="isoform 27 is encoded by transcript variant 33;
                     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 27"
                     /protein_id="NP_001393590.1"
                     /db_xref="GeneID:4436"
                     /db_xref="HGNC:HGNC:7325"
                     /db_xref="MIM:609309"
                     /translation="MIETTLDMDQVENHEFLVKPSFDPNLSELREIMNDLEKKMQSTL
                     ISAARDLGLDPGKQIKLDSSAQFGYYFRVTCKEEKVLRNNKNFSTVDIQKNGVKFTNS
                     KLTSLNEEYTKNKTEYEEAQDAIVKEIVNISSGYVEPMQTLNDVLAQLDAVVSFAHVS
                     NGAPVPYVRPAILEKGQGRIILKASRHACVEVQDEIAFIPNDVYFEKDKQMFHIITGP
                     NMGGKSTYIRQTGVIVLMAQIGCFVPCESAEVSIVDCILARVGAGDSQLKGVSTFMAE
                     MLETASILRSATKDSLIIIDELGRGTSTYDGFGLAWAISEYIATKIGAFCMFATHFHE
                     LTALANQIPTVNNLHVTALTTEETLTMLYQVKKGVCDQSFGIHVAELANFPKHVIECA
                     KQKALELEEFQYIGESQGYDIMEPAAKKCYLEREQGEKIIQEFLSKVKQMPFTEMSEE
                     NITIKLKQLKAEVIAKNNSFVNEIISRIKVTT"
     exon            1687..1810
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1811..1961
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1962..2059
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2060..2305
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2306..2510
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2511..2758
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2759..2934
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2935..3379
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3356..3361
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="hexamer: AATAAA"
     polyA_site      3379
                     /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 agagacagga tttcatcatg ttttctaggc
     1141 tgttcttgaa ctcccaggct caagccatcc acccgcctca gcctcccaaa gcgctgggat
     1201 tacaggcgtg agtcaccatg cccaaccaat tccagtcagc tcttaaaatg aaagcctaga
     1261 aatgagtctt gctctgtgga gtgtagtggt gcaatcttgg ctcactgcat cctccacctc
     1321 ccgggttcaa tcaagcaatt ctcctgcttc agcctcccga gtagctggga ttacagattg
     1381 aatttagtgg aagcttttgt agaagatgca gaattgaggc agactttaca agaagattta
     1441 cttcgtcgat tcccagatct taaccgactt gccaagaagt ttcaaagaca agcagcaaac
     1501 ttacaagatt gttaccgact ctatcagggt ataaatcaac tacctaatgt tatacaggct
     1561 ctggaaaaac atgaaggaaa acaccagaaa ttattgttgg cagtttttgt gactcctctt
     1621 actgatcttc gttctgactt ctccaagttt caggaaatga tagaaacaac tttagatatg
     1681 gatcaggtgg aaaaccatga attccttgta aaaccttcat ttgatcctaa tctcagtgaa
     1741 ttaagagaaa taatgaatga cttggaaaag aagatgcagt caacattaat aagtgcagcc
     1801 agagatcttg gcttggaccc tggcaaacag attaaactgg attccagtgc acagtttgga
     1861 tattactttc gtgtaacctg taaggaagaa aaagtccttc gtaacaataa aaactttagt
     1921 actgtagata tccagaagaa tggtgttaaa tttaccaaca gcaaattgac ttctttaaat
     1981 gaagagtata ccaaaaataa aacagaatat gaagaagccc aggatgccat tgttaaagaa
     2041 attgtcaata tttcttcagg ctatgtagaa ccaatgcaga cactcaatga tgtgttagct
     2101 cagctagatg ctgttgtcag ctttgctcac gtgtcaaatg gagcacctgt tccatatgta
     2161 cgaccagcca ttttggagaa aggacaagga agaattatat taaaagcatc caggcatgct
     2221 tgtgttgaag ttcaagatga aattgcattt attcctaatg acgtatactt tgaaaaagat
     2281 aaacagatgt tccacatcat tactggcccc aatatgggag gtaaatcaac atatattcga
     2341 caaactgggg tgatagtact catggcccaa attgggtgtt ttgtgccatg tgagtcagca
     2401 gaagtgtcca ttgtggactg catcttagcc cgagtagggg ctggtgacag tcaattgaaa
     2461 ggagtctcca cgttcatggc tgaaatgttg gaaactgctt ctatcctcag gtctgcaacc
     2521 aaagattcat taataatcat agatgaattg ggaagaggaa cttctaccta cgatggattt
     2581 gggttagcat gggctatatc agaatacatt gcaacaaaga ttggtgcttt ttgcatgttt
     2641 gcaacccatt ttcatgaact tactgccttg gccaatcaga taccaactgt taataatcta
     2701 catgtcacag cactcaccac tgaagagacc ttaactatgc tttatcaggt gaagaaaggt
     2761 gtctgtgatc aaagttttgg gattcatgtt gcagagcttg ctaatttccc taagcatgta
     2821 atagagtgtg ctaaacagaa agccctggaa cttgaggagt ttcagtatat tggagaatcg
     2881 caaggatatg atatcatgga accagcagca aagaagtgct atctggaaag agagcaaggt
     2941 gaaaaaatta ttcaggagtt cctgtccaag gtgaaacaaa tgccctttac tgaaatgtca
     3001 gaagaaaaca tcacaataaa gttaaaacag ctaaaagctg aagtaatagc aaagaataat
     3061 agctttgtaa atgaaatcat ttcacgaata aaagttacta cgtgaaaaat cccagtaatg
     3121 gaatgaaggt aatattgata agctattgtc tgtaatagtt ttatattgtt ttatattaac
     3181 cctttttcca tagtgttaac tgtcagtgcc catgggctat caacttaata agatatttag
     3241 taatatttta ctttgaggac attttcaaag atttttattt tgaaaaatga gagctgtaac
     3301 tgaggactgt ttgcaattga cataggcaat aataagtgat gtgctgaatt ttataaataa
     3361 aatcatgtag tttgtggaa
//
