PMS2 (PMS1 homolog 2, mismatch repair system component)

2003-02-01  

Identity

HGNC
PMS2
LOCATION
7p22.1
LOCUSID
5395
ALIAS
HNPCC4,MLH4,MMRCS4,PMS2CL,PMSL2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443761Colorectal Neoplasms, Hereditary NonpolyposisDiseaseLiterature, MultilinkAnnotationassociated23788249

References

Pubmed IDYearTitleCitations
375346302024PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.0
382844512024Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.0
385310232024A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.0
386545212024In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk.1
375346302024PMS2 or PMS2CL? Characterization of variants detected in the 3' of the PMS2 gene.0
382844512024Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.0
385310232024A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.0
386545212024In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk.1
361346132023Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk.0
364531572023Diabetes mellitus impacts on expression of DNA mismatch repair protein PMS2 and tumor microenvironment in pancreatic ductal adenocarcinoma.1
361346132023Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk.0
364531572023Diabetes mellitus impacts on expression of DNA mismatch repair protein PMS2 and tumor microenvironment in pancreatic ductal adenocarcinoma.1
348070012022Analysis of the MLH1, MLH2, MLH6, PMS2 genes and their correlations with clinical data in rectal mucinous adenocarcinoma.1
353465742022Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome.4
354515392022Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.1

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/gene-explorer/meetings/js/_common.js