Property Summary

NCBI Gene PubMed Count 27
PubMed Score 70.77
PubTator Score 29.74

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (1)

Expression

Gene RIF (15)

PMID Text
25041856 inactivation of MSH4 in germ cells may have played a role in the acquisition of additional TP53 and LATS1 germline mutations in a Li-Fraumeni family
24145748 hMSH4 interacts with HDAC3.
23725059 Our current study has revealed a role for hMSH4 in the maintenance of genomic stability by suppressing NHEJ-mediated DSB repair.
21126912 mutation analysis of SYCP3, DNMT3L and MSH4 in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages
20378615 Observational study of gene-disease association. (HuGE Navigator)
19064572 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18270339 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18166824 Data show that there is no association between MSH4 gene mutation and premature ovarian failure.
18166824 Observational study of gene-disease association. (HuGE Navigator)
17977839 Data have identified the interaction region between the individual subunits of hMSH4-hMSH5 that are likely involved in clamp formation and show that each subunit of the heterodimer binds ATP.
17869244 Dimerization of MSH4 and MSH5 facilitates their nuclear localization suggesting that dimerization may regulate the intracellular trafficking of these proteins.
17127347 A review of the properties and functional roles of MSH4.
16122992 the GPS2 might function in concert with hMSH4-hMSH5 during the process of homologous recombination.
15907804 The different properties associated with these two hMSH5 variants underscore the potential functional diversity of the human hMSH5 gene.
11948175 Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha

AA Sequence

MLRPEISSTSPSAPAVSPSSGETRSPQGPRYNFGLQETPQSRPSVQVVSASTCPGTSGAAGDRSSSSSSL      1 - 70
PCPAPNSRPAQGSYFGNKRAYAENTVASNFTFGASSSSARDTNYPQTLKTPLSTGNPQRSGYKSWTPQVG     71 - 140
YSASSSSAISAHSPSVIVAVVEGRGLARGEIGMASIDLKNPQIILSQFADNTTYAKVITKLKILSPLEII    141 - 210
MSNTACAVGNSTKLFTLITENFKNVNFTTIQRKYFNETKGLEYIEQLCIAEFSTVLMEVQSKYYCLAAVA    211 - 280
ALLKYVEFIQNSVYAPKSLKICFQGSEQTAMIDSSSAQNLELLINNQDYRNNHTLFGVLNYTKTPGGSRR    281 - 350
LRSNILEPLVDIETINMRLDCVQELLQDEELFFGLQSVISRFLDTEQLLSVLVQIPKQDTVNAAESKITN    351 - 420
LIYLKHTLELVDPLKIAMKNCNTPLLRAYYGSLEDKRFGIILEKIKTVINDDARYMKGCLNMRTQKCYAV    421 - 490
RSNINEFLDIARRTYTEIVDDIAGMISQLGEKYSLPLRTSFSSARGFFIQMTTDCIALPSDQLPSEFIKI    491 - 560
SKVKNSYSFTSADLIKMNERCQESLREIYHMTYMIVCKLLSEIYEHIHCLYKLSDTVSMLDMLLSFAHAC    561 - 630
TLSDYVRPEFTDTLAIKQGWHPILEKISAEKPIANNTYVTEGSNFLIITGPNMSGKSTYLKQIALCQIMA    631 - 700
QIGSYVPAEYSSFRIAKQIFTRISTDDDIETNSSTFMKEMKEIAYILHNANDKSLILIDELGRGTNTEEG    701 - 770
IGICYAVCEYLLSLKAFTLFATHFLELCHIDALYPNVENMHFEVQHVKNTSRNKEAILYTYKLSKGLTEE    771 - 840
KNYGLKAAEVSSLPPSIVLDAKEITTQITRQILQNQRSTPEMERQRAVYHLATRLVQTARNSQLDPDSLR    841 - 910
IYLSNLKKKYKEDFPRTEQVPEKTEE                                                911 - 936
//

Text Mined References (29)

PMID Year Title
25041856 2014 TP53, MSH4, and LATS1 germline mutations in a family with clustering of nervous system tumors.
24145748 2013 DNA damage induced MutS homologue hMSH4 acetylation.
23725059 2013 MutS homologue hMSH4: interaction with eIF3f and a role in NHEJ-mediated DSB repair.
22401567 2012 MutS homologue hMSH5: role in cisplatin-induced DNA damage response.
21126912 2011 Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages.
20378615 2010 Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.
19064572 2008 Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18270339 2008 Comprehensive analysis of DNA repair gene variants and risk of meningioma.
18166824 2008 Genetic investigation of four meiotic genes in women with premature ovarian failure.
17977839 2008 hMSH4-hMSH5 adenosine nucleotide processing and interactions with homologous recombination machinery.
17869244 2007 CRM1-dependent nuclear export and dimerization with hMSH5 contribute to the regulation of hMSH4 subcellular localization.
17127347 2007 MutS homologues hMSH4 and hMSH5: diverse functional implications in humans.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16397227 2006 Physical and functional interaction between hMSH5 and c-Abl.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16122992 2006 Formation of hMSH4-hMSH5 heterocomplex is a prerequisite for subsequent GPS2 recruitment.
15907804 2005 Two variants of MutS homolog hMSH5: prevalence in humans and effects on protein interaction.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12591739 2003 Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor suppressor-binding protein 1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12095912 2002 The DNA mismatch-repair MLH3 protein interacts with MSH4 in meiotic cells, supporting a role for this MutL homolog in mammalian meiotic recombination.
11950880 2002 The time course and chromosomal localization of recombination-related proteins at meiosis in the mouse are compatible with models that can resolve the early DNA-DNA interactions without reciprocal recombination.
11948175 2002 Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha.
10928988 2000 MSH4 acts in conjunction with MLH1 during mammalian meiosis.
10809667 2000 MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice.
10029069 1999 hMSH5: a human MutS homologue that forms a novel heterodimer with hMSH4 and is expressed during spermatogenesis.
9787078 1998 Cloning and characterization of the human and Caenorhabditis elegans homologs of the Saccharomyces cerevisiae MSH5 gene.
9299235 1997 Cloning and expression analysis of a meiosis-specific MutS homolog: the human MSH4 gene.