PMS2 (PMS1 homolog 2, mismatch repair system component)

2003-02-01  

Identity

HGNC
LOCATION
7p22.1
LOCUSID
ALIAS
HNPCC4,MLH4,MMRCS4,PMS2CL,PMSL2
FUSION GENES

Other Information

Locus ID:

NCBI: 5395
MIM: 600259
HGNC: 9122
Ensembl: ENSG00000122512

Variants:

dbSNP: 5395
ClinVar: 5395
TCGA: ENSG00000122512
COSMIC: PMS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122512ENST00000265849P54278
ENSG00000122512ENST00000382321P54278
ENSG00000122512ENST00000441476C9J167
ENSG00000122512ENST00000642292A0A2R8Y6S3
ENSG00000122512ENST00000642456A0A2R8Y6S3
ENSG00000122512ENST00000643595P54278
ENSG00000122512ENST00000644110C9J167

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Mismatch repairKEGGko03430
Mismatch repairKEGGhsa03430
Fanconi anemia pathwayKEGGko03460
Fanconi anemia pathwayKEGGhsa03460
BRCA1-associated genome surveillance complex (BASC)KEGGhsa_M00295
BRCA1-associated genome surveillance complex (BASC)KEGGM00295
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
DNA RepairREACTOMER-HSA-73894
Mismatch RepairREACTOMER-HSA-5358508
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)REACTOMER-HSA-5358565
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)REACTOMER-HSA-5358606
TP53 Regulates Transcription of DNA Repair GenesREACTOMER-HSA-6796648

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443761Colorectal Neoplasms, Hereditary NonpolyposisDiseaseLiterature, MultilinkAnnotationassociated23788249

References

Pubmed IDYearTitleCitations
168853852006Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.149
186029222008The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.145
186029222008The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.145
175816382007The FANCJ/MutLalpha interaction is required for correction of the cross-link response in FA-J cells.92
214252582011Promoter methylation and expression of MGMT and the DNA mismatch repair genes MLH1, MSH2, MSH6 and PMS2 in paired primary and recurrent glioblastomas.75
161161582005Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.66
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
173123062007Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.61
171484522007Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2.59
197306832009The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.59

Citation

Dessen P

PMS2 (PMS1 homolog 2, mismatch repair system component)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/328/pms2