LOCUS       NM_001406650            2965 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens mutS homolog 2 (MSH2), transcript variant 22, mRNA.
ACCESSION   NM_001406650
VERSION     NM_001406650.1
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 2965)
  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 2965)
  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 2965)
  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 2965)
  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 2965)
  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 2965)
  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 2965)
  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 2965)
  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 2965)
  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 2965)
  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 :: SRR14038197.95516.1,
                                           SRR14038196.2705308.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##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
            829-962             AC079775.6         111285-111418
            963-1162            AC079775.6         124731-124930
            1163-1272           AC079775.6         140537-140646
            1273-1396           AC079775.6         158020-158143
            1397-1547           AC079775.6         161647-161797
            1548-1645           AC079775.6         165954-166051
            1646-1891           AC138655.1         27-272
            1892-2096           AC138655.1         1369-1573
            2097-2344           AC138655.1         3274-3521
            2345-2520           AC138655.1         5698-5873
            2521-2965           AC138655.1         7781-8225
FEATURES             Location/Qualifiers
     source          1..2965
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21-p16.3"
     gene            1..2965
                     /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..2691
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="isoform 19 is encoded by transcript variant 22;
                     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 19"
                     /protein_id="NP_001393579.1"
                     /db_xref="GeneID:4436"
                     /db_xref="HGNC:HGNC:7325"
                     /db_xref="MIM:609309"
                     /translation="MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYT
                     AHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEV
                     YKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQ
                     VGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQ
                     RGGILITERKKADFSTKDIYQDLNRLLKGKKGEQMNSAVLPEMENQGSVEDTTGSQSL
                     AALLNKCKTPQGQRLVNQWIKQPLMDKNRIEERLNLVEAFVEDAELRQTLQEDLLRRF
                     PDLNRLAKKFQRQAANLQDCYRLYQGINQLPNVIQALEKHEGKHQKLLLAVFVTPLTD
                     LRSDFSKFQEMIETTLDMDQVENHEFLVKPSFDPNLSELREIMNDLEKKMQSTLISAA
                     RDLGLDPGKQIKLDSSAQFGYYFRVTCKEEKVLRNNKNFSTVDIQKNGVKFTNSKLTS
                     LNEEYTKNKTEYEEAQDAIVKEIVNISSGYVEPMQTLNDVLAQLDAVVSFAHVSNGAP
                     VPYVRPAILEKGQGRIILKASRHACVEVQDEIAFIPNDVYFEKDKQMFHIITGPNMGG
                     KSTYIRQTGVIVLMAQIGCFVPCESAEVSIVDCILARVGAGDSQLKGVSTFMAEMLET
                     ASILRSATKDSLIIIDELGRGTSTYDGFGLAWAISEYIATKIGAFCMFATHFHELTAL
                     ANQIPTVNNLHVTALTTEETLTMLYQVKKGVCDQSFGIHVAELANFPKHVIECAKQKA
                     LELEEFQYIGESQGYDIMEPAAKKCYLEREQGEKIIQEFLSKVKQMPFTEMSEENITI
                     KLKQLKAEVIAKNNSFVNEIISRIKVTT"
     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..962
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1162
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1272
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1396
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1397..1547
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1548..1645
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1646..1891
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1892..2096
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2097..2344
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2345..2520
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     exon            2521..2965
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2942..2947
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSH2"
                     /gene_synonym="COCA1; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2;
                     LYNCH1; MMRCS2; MSH-2"
                     /note="hexamer: AATAAA"
     polyA_site      2965
                     /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 agaatcaggg ttctgttgaa
      841 gataccactg gctctcagtc tctggctgcc ttgctgaata agtgtaaaac ccctcaagga
      901 caaagacttg ttaaccagtg gattaagcag cctctcatgg ataagaacag aatagaggag
      961 agattgaatt tagtggaagc ttttgtagaa gatgcagaat tgaggcagac tttacaagaa
     1021 gatttacttc gtcgattccc agatcttaac cgacttgcca agaagtttca aagacaagca
     1081 gcaaacttac aagattgtta ccgactctat cagggtataa atcaactacc taatgttata
     1141 caggctctgg aaaaacatga aggaaaacac cagaaattat tgttggcagt ttttgtgact
     1201 cctcttactg atcttcgttc tgacttctcc aagtttcagg aaatgataga aacaacttta
     1261 gatatggatc aggtggaaaa ccatgaattc cttgtaaaac cttcatttga tcctaatctc
     1321 agtgaattaa gagaaataat gaatgacttg gaaaagaaga tgcagtcaac attaataagt
     1381 gcagccagag atcttggctt ggaccctggc aaacagatta aactggattc cagtgcacag
     1441 tttggatatt actttcgtgt aacctgtaag gaagaaaaag tccttcgtaa caataaaaac
     1501 tttagtactg tagatatcca gaagaatggt gttaaattta ccaacagcaa attgacttct
     1561 ttaaatgaag agtataccaa aaataaaaca gaatatgaag aagcccagga tgccattgtt
     1621 aaagaaattg tcaatatttc ttcaggctat gtagaaccaa tgcagacact caatgatgtg
     1681 ttagctcagc tagatgctgt tgtcagcttt gctcacgtgt caaatggagc acctgttcca
     1741 tatgtacgac cagccatttt ggagaaagga caaggaagaa ttatattaaa agcatccagg
     1801 catgcttgtg ttgaagttca agatgaaatt gcatttattc ctaatgacgt atactttgaa
     1861 aaagataaac agatgttcca catcattact ggccccaata tgggaggtaa atcaacatat
     1921 attcgacaaa ctggggtgat agtactcatg gcccaaattg ggtgttttgt gccatgtgag
     1981 tcagcagaag tgtccattgt ggactgcatc ttagcccgag taggggctgg tgacagtcaa
     2041 ttgaaaggag tctccacgtt catggctgaa atgttggaaa ctgcttctat cctcaggtct
     2101 gcaaccaaag attcattaat aatcatagat gaattgggaa gaggaacttc tacctacgat
     2161 ggatttgggt tagcatgggc tatatcagaa tacattgcaa caaagattgg tgctttttgc
     2221 atgtttgcaa cccattttca tgaacttact gccttggcca atcagatacc aactgttaat
     2281 aatctacatg tcacagcact caccactgaa gagaccttaa ctatgcttta tcaggtgaag
     2341 aaaggtgtct gtgatcaaag ttttgggatt catgttgcag agcttgctaa tttccctaag
     2401 catgtaatag agtgtgctaa acagaaagcc ctggaacttg aggagtttca gtatattgga
     2461 gaatcgcaag gatatgatat catggaacca gcagcaaaga agtgctatct ggaaagagag
     2521 caaggtgaaa aaattattca ggagttcctg tccaaggtga aacaaatgcc ctttactgaa
     2581 atgtcagaag aaaacatcac aataaagtta aaacagctaa aagctgaagt aatagcaaag
     2641 aataatagct ttgtaaatga aatcatttca cgaataaaag ttactacgtg aaaaatccca
     2701 gtaatggaat gaaggtaata ttgataagct attgtctgta atagttttat attgttttat
     2761 attaaccctt tttccatagt gttaactgtc agtgcccatg ggctatcaac ttaataagat
     2821 atttagtaat attttacttt gaggacattt tcaaagattt ttattttgaa aaatgagagc
     2881 tgtaactgag gactgtttgc aattgacata ggcaataata agtgatgtgc tgaattttat
     2941 aaataaaatc atgtagtttg tggaa
//
