MLH3 (mutL homolog 3)

2003-02-01  

Identity

HGNC
LOCATION
14q24.3
LOCUSID
ALIAS
HNPCC7
FUSION GENES

Other Information

Locus ID:

NCBI: 27030
MIM: 604395
HGNC: 7128
Ensembl: ENSG00000119684

Variants:

dbSNP: 27030
ClinVar: 27030
TCGA: ENSG00000119684
COSMIC: MLH3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119684ENST00000355774Q9UHC1
ENSG00000119684ENST00000380968Q9UHC1
ENSG00000119684ENST00000553263G3V3E0
ENSG00000119684ENST00000553713H0YJB4
ENSG00000119684ENST00000554697H0YJA3
ENSG00000119684ENST00000555144H0YJ15
ENSG00000119684ENST00000556257G3V419
ENSG00000119684ENST00000556453H0YJU3
ENSG00000119684ENST00000556740Q9UHC1
ENSG00000119684ENST00000557648G3V384

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Mismatch repairKEGGko03430
Mismatch repairKEGGhsa03430
Cell CycleREACTOMER-HSA-1640170
MeiosisREACTOMER-HSA-1500620
Meiotic recombinationREACTOMER-HSA-912446

References

Pubmed IDYearTitleCitations
155584972005Extreme heterogeneity in the molecular events leading to the establishment of chiasmata during meiosis i in human oocytes.59
167749462006Common variants in mismatch repair genes and risk of invasive ovarian cancer.36
174940522007Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers.36
204039972010Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer.30
175675442007Mutations affecting a putative MutLalpha endonuclease motif impact multiple mismatch repair functions.29
201543252010MutLalpha and proliferating cell nuclear antigen share binding sites on MutSbeta.26
197891902009A gene-based risk score for lung cancer susceptibility in smokers and ex-smokers.23
183644382008Common variants in mismatch repair genes and risk of colorectal cancer.15
185511792008Novel roles for MLH3 deficiency and TLE6-like amplification in DNA mismatch repair-deficient gastrointestinal tumorigenesis and progression.15
204370582010The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.15

Citation

Dessen P

MLH3 (mutL homolog 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/381/mlh3