Property Summary

NCBI Gene PubMed Count 812
Grant Count 693
R01 Count 429
Funding $89,490,911.52
PubMed Score 2259.44
PubTator Score 1976.31

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis 2.000 0.000
ovarian cancer -1.500 0.000

Synonym

Accession P40692 B4DI13 B4DQ11 E9PCU2
Symbols FCC2
COCA2
HNPCC
hMLH1
HNPCC2

Gene

PDB

3RBN   4P7A  

Gene RIF (758)

PMID Text
27013479 In Lynch syndrome families, prostate cancer was associated with mutations in MLH1 with loss of the mismatch repair protein.
26823831 The DNA methylation of both Reprimo and hMLH1 genes depressed the protein expression, and may participate in the occurrence and progression and gastric cancer
26810771 DAPK-1 and MLH1 methylation correlated inversely in tumors in the middle-third of the stomach
26761715 our results revealed an unexpected high number of splicing mutations in the exon 10 of MLH1, most of which affecting potential ESRs, and confirmed the predictive power of DeltatESRseq- and DeltaHZEI-based approaches for pinpointing this type of mutations
26728996 data supported an interdependence of mismatch repair proteins, particularly MLH1 and MSH2, in the mediation of apoptosis in human colorectal carcinoma cell lines
26724419 Study shows an association between MLH1 rs1800734 polymorphism and gastric cancer risk contributing to the MSI phenotype in cancer cells.
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.
26512054 MLH1 Promoter Region Methylation is associated with colorectal cancer.
26477961 Pathogenic mutations were only confined to MLH1 and identified in 28.8% of Singapore families with Hereditary Colorectal Cancer.
26392358 Data indicate tumor suppressors TP73, RASSF1A, MLH1 and BRCA1 as possible biomarkers to distinguish Pleomorphic invasive lobular cancer (pleomorphic ILC} from classic ILC and infiltrative ductal cancer (IDC).
More...

AA Sequence

MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRK      1 - 70
EDLDIVCERFTTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPK     71 - 140
PCAGNQGTQITVEDLFYNIATRRKALKNPSEEYGKILEVVGRYSVHNAGISFSVKKQGETVADVRTLPNA    141 - 210
STVDNIRSIFGNAVSRELIEIGCEDKTLAFKMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVY    211 - 280
AAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSNSSRMYFTQTLLP    281 - 350
GLAGPSGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDIS    351 - 420
SGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEM    421 - 490
TAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELF    491 - 560
YQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEI    561 - 630
DEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQ    631 - 700
QSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNILQLANLPDLYKVFERC                  701 - 756
//

Text Mined References (846)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
27013479 2016 Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.
26823831 2015 Implication of Reprimo and hMLH1 gene methylation in early diagnosis of gastric carcinoma.
26810771 2016 Gene methylation profile of gastric cancerous tissue according to tumor site in the stomach.
26761715 2016 Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
26728996 2016 Interdependence of DNA mismatch repair proteins MLH1 and MSH2 in apoptosis in human colorectal carcinoma cell lines.
26724419 2016 Polymorphisms in mismatch repair genes are associated with risk and microsatellite instability of gastric cancer, and interact with life exposures.
26544533 2016 Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
26512054 2016 Clinicopathologic Risk Factor Distributions for MLH1 Promoter Region Methylation in CIMP-Positive Tumors.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
More...