Property Summary

NCBI Gene PubMed Count 150
PubMed Score 309.34
PubTator Score 327.75

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P54278 B2R610 Q52LH6 Q5FBW9 Q5FBX1 Q5FBX2 Q75MR2
Symbols MLH4
PMSL2
HNPCC4
PMS2CL

Gene

PDB

1EA6   1H7S   1H7U  

Gene RIF (118)

PMID Text
26544533 Heterozygous germline mutations in any of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, cause Lynch syndrome (LS), an autosomal dominant cancer predisposition syndrome.
26320870 A reliable tool for accurate molecular analysis of genes containing multiple copies of highly homologous sequences and improved PMS2 molecular analysis for patients with Lynch syndrome.
26224637 MutSalpha, proliferating cell nuclear antigen, and replication factor C activate MutLalpha endonuclease to remove the 1-nucleotide Okazaki fragment flaps
26097592 Loss of MLH-1/PMS-2 expression was associated with right-colon location, poor and mucinous differentiation and dense lymphocytic infiltration in colorectal adenocarcinoma.
26036629 These results demonstrate a functional role for PMS2 to protect against prostate cancer progression by enhancing apoptosis of prostate cancer cells and by inhibiting cell proliferation, migration, and invasion in vitro as well as tumor growth in vivo.
25871621 Report high frequency of MLH1 germline mutations in Lynch syndrome patients with colorectal and endometrial carcinoma demonstrating isolated loss of PMS2 immunohistochemical expression.
25856668 Germline mutations in MLH1, MSH2, MSH6 and PMS2 have been shown to cause Lynch syndrome. A total of 234 monoallelic PMS2 mutation carriers from 170 families were included.
25691505 Our genotype-phenotype study of c.2002A>G illustrates that an extremely low level of PMS2 expression likely delays cancer onset, a feature that could be exploited in cancer preventive intervention.
25512458 Data indicate that in 98 mismatch repair gene PMS2 families ascertained from family cancer clinics that included a total of 2,548 family members and 377 proven mutation carriers.
25215298 Another MMR protein PMS2 also displayed a declined expression while being in a later stage of transformation.
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AA Sequence

MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKDYGVDLIEVSD      1 - 70
NGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFGFRGEALSSLCALSDVTISTCHASAKVGTRLMFDHN     71 - 140
GKIIQKTPYPRPRGTTVSVQQLFSTLPVRHKEFQRNIKKEYAKMVQVLHAYCIISAGIRVSCTNQLGQGK    141 - 210
RQPVVCTGGSPSIKENIGSVFGQKQLQSLIPFVQLPPSDSVCEEYGLSCSDALHNLFYISGFISQCTHGV    211 - 280
GRSSTDRQFFFINRRPCDPAKVCRLVNEVYHMYNRHQYPFVVLNISVDSECVDINVTPDKRQILLQEEKL    281 - 350
LLAVLKTSLIGMFDSDVNKLNVSQQPLLDVEGNLIKMHAADLEKPMVEKQDQSPSLRTGEEKKDVSISRL    351 - 420
REAFSLRHTTENKPHSPKTPEPRRSPLGQKRGMLSSSTSGAISDKGVLRPQKEAVSSSHGPSDPTDRAEV    421 - 490
EKDSGHGSTSVDSEGFSIPDTGSHCSSEYAASSPGDRGSQEHVDSQEKAPKTDDSFSDVDCHSNQEDTGC    491 - 560
KFRVLPQPTNLATPNTKRFKKEEILSSSDICQKLVNTQDMSASQVDVAVKINKKVVPLDFSMSSLAKRIK    561 - 630
QLHHEAQQSEGEQNYRKFRAKICPGENQAAEDELRKEISKTMFAEMEIIGQFNLGFIITKLNEDIFIVDQ    631 - 700
HATDEKYNFEMLQQHTVLQGQRLIAPQTLNLTAVNEAVLIENLEIFRKNGFDFVIDENAPVTERAKLISL    701 - 770
PTSKNWTFGPQDVDELIFMLSDSPGVMCRPSRVKQMFASRACRKSVMIGTALNTSEMKKLITHMGEMDHP    771 - 840
WNCPHGRPTMRHIANLGVISQN                                                    841 - 862
//

Text Mined References (153)

PMID Year Title
26544533 2016 Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26320870 2015 A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.
26224637 2015 Evidence that the DNA mismatch repair system removes 1-nucleotide Okazaki fragment flaps.
26097592 2015 Relationship between MLH-1, MSH-2, PMS-2,MSH-6 expression and clinicopathological features in colorectal cancer.
26036629 2015 Functional role of DNA mismatch repair gene PMS2 in prostate cancer cells.
25871621 2015 Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.
25856668 2016 PMS2 monoallelic mutation carriers: the known unknown.
25691505 2015 A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
25512458 2015 Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
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