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Aliases for PMS2 Gene

Aliases for PMS2 Gene

  • PMS1 Homolog 2, Mismatch Repair System Component 2 3 5
  • PMS1 Homolog 2, Mismatch Repair Protein 2 3
  • DNA Mismatch Repair Protein PMS2 3 4
  • PMS1 Protein Homolog 2 3 4
  • PMSL2 3 4
  • PMS2 Postmeiotic Segregation Increased 2 (S. Cerevisiae) 2
  • Postmeiotic Segregation Increased (S. Cerevisiae) 2 2
  • Postmeiotic Segregation Increased 2 Nirs Variant 6 3
  • PMS2 Postmeiotic Segregation Increased 2 3
  • Mismatch Repair Endonuclease PMS2 3
  • EC 3.1.-.- 4
  • HNPCC4 3
  • PMS2CL 3
  • MLH4 3

External Ids for PMS2 Gene

Previous HGNC Symbols for PMS2 Gene

  • PMSL2

Previous GeneCards Identifiers for PMS2 Gene

  • GC07M005657
  • GC07M005758
  • GC07M005759
  • GC07M005786
  • GC07M005979
  • GC07M006016

Summaries for PMS2 Gene

Entrez Gene Summary for PMS2 Gene

  • The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]

GeneCards Summary for PMS2 Gene

PMS2 (PMS1 Homolog 2, Mismatch Repair System Component) is a Protein Coding gene. Diseases associated with PMS2 include Mismatch Repair Cancer Syndrome and Colorectal Cancer, Hereditary Nonpolyposis, Type 4. Among its related pathways are Mismatch repair and Regulation of TP53 Activity. GO annotations related to this gene include ATPase activity and endonuclease activity. An important paralog of this gene is PMS1.

UniProtKB/Swiss-Prot for PMS2 Gene

  • Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages.

Gene Wiki entry for PMS2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMS2 Gene

Genomics for PMS2 Gene

Regulatory Elements for PMS2 Gene

Enhancers for PMS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around PMS2 on UCSC Golden Path with GeneCards custom track

Promoters for PMS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PMS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PMS2 Gene

Chromosome:
7
Start:
5,970,925 bp from pter
End:
6,009,125 bp from pter
Size:
38,201 bases
Orientation:
Minus strand

Genomic View for PMS2 Gene

Genes around PMS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMS2 Gene

Proteins for PMS2 Gene

  • Protein details for PMS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54278-PMS2_HUMAN
    Recommended name:
    Mismatch repair endonuclease PMS2
    Protein Accession:
    P54278
    Secondary Accessions:
    • B2R610
    • Q52LH6
    • Q5FBW9
    • Q5FBX1
    • Q5FBX2
    • Q75MR2

    Protein attributes for PMS2 Gene

    Size:
    862 amino acids
    Molecular mass:
    95797 Da
    Quaternary structure:
    • Heterodimer of PMS2 and MLH1 (MutL alpha). Forms a ternary complex with MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with MTMR15/FAN1.

    Three dimensional structures from OCA and Proteopedia for PMS2 Gene

    Alternative splice isoforms for PMS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PMS2 Gene

Post-translational modifications for PMS2 Gene

  • Ubiquitination at Lys 146
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PMS2 Gene

Domains & Families for PMS2 Gene

Gene Families for PMS2 Gene

Graphical View of Domain Structure for InterPro Entry

P54278

UniProtKB/Swiss-Prot:

PMS2_HUMAN :
  • Belongs to the DNA mismatch repair MutL/HexB family.
Family:
  • Belongs to the DNA mismatch repair MutL/HexB family.
genes like me logo Genes that share domains with PMS2: view

Function for PMS2 Gene

Molecular function for PMS2 Gene

GENATLAS Biochemistry:
postmeiotic segregation increased 2,yeast mutator gene homolog (bacterial mutL) heterodimerizing with MLH1,involved in mismatch repair
UniProtKB/Swiss-Prot Function:
Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages.

Enzyme Numbers (IUBMB) for PMS2 Gene

Gene Ontology (GO) - Molecular Function for PMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 10871409
GO:0003697 contributes_to single-stranded DNA binding IDA 11809883
GO:0004519 endonuclease activity TAS --
GO:0005515 protein binding IPI 11793469
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with PMS2: view
genes like me logo Genes that share phenotypes with PMS2: view

Human Phenotype Ontology for PMS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PMS2 Gene

MGI Knock Outs for PMS2:

Animal Model Products

CRISPR Products

miRNA for PMS2 Gene

miRTarBase miRNAs that target PMS2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PMS2

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PMS2 Gene

Localization for PMS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMS2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PMS2 Gene COMPARTMENTS Subcellular localization image for PMS2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for PMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 23709753
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0015630 microtubule cytoskeleton IDA --
GO:0032389 MutLalpha complex IBA --
genes like me logo Genes that share ontologies with PMS2: view

Pathways & Interactions for PMS2 Gene

genes like me logo Genes that share pathways with PMS2: view

Pathways by source for PMS2 Gene

2 KEGG pathways for PMS2 Gene
1 Qiagen pathway for PMS2 Gene

Gene Ontology (GO) - Biological Process for PMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006298 mismatch repair TAS --
GO:0016446 somatic hypermutation of immunoglobulin genes IBA --
GO:0042493 response to drug IEA --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with PMS2: view

No data available for SIGNOR curated interactions for PMS2 Gene

Drugs & Compounds for PMS2 Gene

(4) Drugs for PMS2 Gene - From: DrugBank, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
pembrolizumab Approved Pharma 355
Phosphothiophosphoric Acid-Adenylate Ester Experimental Pharma Target 0

(3) Additional Compounds for PMS2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PMS2: view

Transcripts for PMS2 Gene

Unigene Clusters for PMS2 Gene

PMS2 postmeiotic segregation increased 2 (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PMS2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PMS2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11
SP1:
SP2:
SP3:
SP4:

Relevant External Links for PMS2 Gene

GeneLoc Exon Structure for
PMS2
ECgene alternative splicing isoforms for
PMS2

Expression for PMS2 Gene

mRNA expression in normal human tissues for PMS2 Gene

Protein differential expression in normal tissues from HIPED for PMS2 Gene

This gene is overexpressed in Cervix (31.3), Heart (7.7), and Platelet (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PMS2 Gene



NURSA nuclear receptor signaling pathways regulating expression of PMS2 Gene:

PMS2

SOURCE GeneReport for Unigene cluster for PMS2 Gene:

Hs.632637
genes like me logo Genes that share expression patterns with PMS2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PMS2 Gene

Orthologs for PMS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PMS2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PMS2 34
  • 81.65 (n)
  • 80.37 (a)
PMS2 35
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PMS2 34
  • 82.3 (n)
  • 79.23 (a)
PMS2 35
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pms2 34
  • 80.94 (n)
  • 79.06 (a)
Pms2 16
Pms2 35
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PMS2 34
  • 98.92 (n)
  • 98.61 (a)
-- 35
  • 95 (a)
OneToMany
-- 35
  • 98 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PMS2 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 70 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves PMS2 35
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PMS2 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pms2 34
  • 65.45 (n)
  • 66.99 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7468 34
zebrafish
(Danio rerio)
Actinopterygii pms2 34
  • 62.64 (n)
  • 61.45 (a)
wufb39g07 34
pms2 35
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pms2 36
  • 41 (a)
Pms2 35
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea pms-2 34
  • 50.62 (n)
  • 43.76 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMS1 35
  • 32 (a)
OneToMany
PMS1 37
rice
(Oryza sativa)
Liliopsida Os.23276 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 58 (a)
OneToOne
Species where no ortholog for PMS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PMS2 Gene

ENSEMBL:
Gene Tree for PMS2 (if available)
TreeFam:
Gene Tree for PMS2 (if available)

Paralogs for PMS2 Gene

Paralogs for PMS2 Gene

genes like me logo Genes that share paralogs with PMS2: view

Variants for PMS2 Gene

Sequence variations from dbSNP and Humsavar for PMS2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10254120 - 6,005,996(+) ACTTC(A/C/T)GATCA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs63750685 - 5,987,328(-) AGTCA(C/G/T)GGACC nc-transcript-variant, reference, missense
rs1805323 - 5,987,311(-) CCCTA(A/C/T)GGACA nc-transcript-variant, reference, missense
rs2228007 - 5,987,234(-) CAGAC(A/C/G)CGGGC nc-transcript-variant, reference, missense
rs1805318 - 5,986,976(-) TAAAT(A/T)CTCAG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PMS2 Gene

Variant ID Type Subtype PubMed ID
dgv6241n100 CNV gain 25217958
esv1914954 OTHER inversion 16254605
esv3612007 CNV gain 21293372
esv3891031 CNV loss 25118596
nsv1017061 CNV loss 25217958
nsv1018388 CNV gain 25217958
nsv1034916 CNV gain 25217958
nsv1114912 CNV deletion 24896259
nsv1132635 CNV duplication 24896259
nsv436904 CNV insertion 17901297
nsv474077 CNV novel sequence insertion 20440878
nsv605998 CNV loss 21841781
nsv7392 OTHER inversion 18451855
nsv8037 CNV gain 18304495
nsv830894 CNV loss 17160897
nsv970441 CNV duplication 23825009
nsv970789 CNV duplication 23825009
nsv981429 CNV duplication 23825009

Variation tolerance for PMS2 Gene

Residual Variation Intolerance Score: 96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.54; 72.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PMS2 Gene

Human Gene Mutation Database (HGMD)
PMS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMS2 Gene

Disorders for PMS2 Gene

MalaCards: The human disease database

(24) MalaCards diseases for PMS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mismatch repair cancer syndrome
  • turcot syndrome
colorectal cancer, hereditary nonpolyposis, type 4
  • hereditary non-polyposis colorectal cancer 4
lynch syndrome
  • colorectal cancer, hereditary nonpolyposis, type 1
colorectal cancer, hereditary nonpolyposis, type 1
  • hereditary non-polyposis colorectal cancer 1
pms2-related lynch syndrome
  • pms2-related hereditary non-polyposis colon cancer
- elite association - COSMIC cancer census association via MalaCards
Search PMS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PMS2_HUMAN
  • Hereditary non-polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term suspected HNPCC or incomplete HNPCC can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. {ECO:0000269 PubMed:15887124, ECO:0000269 PubMed:18178629, ECO:0000269 PubMed:23709753}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mismatch repair cancer syndrome (MMRCS) [MIM:276300]: An autosomal recessive, rare, childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. Areas of skin hypopigmentation have also been reported in MMRCS patients. {ECO:0000269 PubMed:15077197, ECO:0000269 PubMed:17557300, ECO:0000269 PubMed:7661930, ECO:0000269 PubMed:9419979}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PMS2

Genetic Association Database (GAD)
PMS2
Human Genome Epidemiology (HuGE) Navigator
PMS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PMS2
genes like me logo Genes that share disorders with PMS2: view

No data available for Genatlas for PMS2 Gene

Publications for PMS2 Gene

  1. Prediction of Lynch syndrome in consecutive patients with colorectal cancer. (PMID: 19244167) Green R.C. … Younghusband H.B. (J. Natl. Cancer Inst. 2009) 3 22 46 65
  2. Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome. (PMID: 19526325) Berginc G. … Glavac D. (Fam. Cancer 2009) 3 22 46 65
  3. Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients. (PMID: 18723338) Mann A. … Song H. (Eur. J. Cancer 2008) 3 22 46 65
  4. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. (PMID: 17557300) Auclair J. … Wang Q. (Hum. Mutat. 2007) 3 4 22 65
  5. Common variants in mismatch repair genes and risk of invasive ovarian cancer. (PMID: 16774946) Song H. … Gayther S.A. (Carcinogenesis 2006) 3 22 46 65

Products for PMS2 Gene

Sources for PMS2 Gene

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