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Aliases for PMS2 Gene

Aliases for PMS2 Gene

  • PMS2 Postmeiotic Segregation Increased 2 (S. Cerevisiae) 2 3
  • PMSL2 3 4 6
  • DNA Mismatch Repair Protein PMS2 3 4
  • PMS1 Protein Homolog 2 3 4
  • HNPCC4 3 6
  • Postmeiotic Segregation Increased (S. Cerevisiae) 2 2
  • Mismatch Repair Endonuclease PMS2 3
  • H_DJ0042M02.9 3
  • EC 3.1.-.- 4
  • PMS2CL 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

  • This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PMS2 Gene

PMS2 (PMS2 Postmeiotic Segregation Increased 2 (S. Cerevisiae)) 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 Direct p53 effectors and Fanconi anemia pathway (KEGG). 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

Genomic Location for PMS2 Gene

Start:
5,973,239 bp from pter
End:
6,009,125 bp from pter
Size:
35,887 bases
Orientation:
Minus strand

Genomic View for PMS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PMS2 Gene at MOPED

Post-translational modifications for PMS2 Gene

  • Ubiquitination at Lys146
  • Modification sites at PhosphoSitePlus

Other Protein References for PMS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PMS2 Gene

Domains for PMS2 Gene

Graphical View of Domain Structure for InterPro Entry

P54278

UniProtKB/Swiss-Prot:

PMS2_HUMAN :
  • P54278
Family:
  • Belongs to the DNA mismatch repair MutL/HexB family.
genes like me logo Genes that share domains with PMS2: view

No data available for Gene Families for PMS2 Gene

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

Animal Models for PMS2 Gene

MGI Knock Outs for PMS2:

miRNA for PMS2 Gene

miRTarBase miRNAs that target PMS2

No data available for Transcription Factor Targeting 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
nucleus 5

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:0032300 mismatch repair complex --
genes like me logo Genes that share ontologies with PMS2: view

Pathways for PMS2 Gene

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

Pathways by source for PMS2 Gene

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

Gene Ontology (GO) - Biological Process for PMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006281 DNA repair TAS --
GO:0006298 mismatch repair TAS --
GO:0006974 cellular response to DNA damage stimulus --
GO:0016446 somatic hypermutation of immunoglobulin genes IBA --
genes like me logo Genes that share ontologies with PMS2: view

Compounds for PMS2 Gene

(2) Drugbank Compounds for PMS2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine-5'-Diphosphate
20398-34-9 target
Phosphothiophosphoric Acid-Adenylate Ester
target

(5) Novoseek inferred chemical compound relationships for PMS2 Gene

Compound -log(P) Hits PubMed IDs
mhs-2 85.6 2
crcs 54.7 2
biotin 5.48 3
paraffin 5.26 1
oxygen 3.13 1
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:

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PMS2 Gene

SOURCE GeneReport for Unigene cluster for PMS2 Gene Hs.632637

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 95 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
PMS2 35
  • 98.92 (n)
  • 98.61 (a)
cow
(Bos Taurus)
Mammalia PMS2 35
  • 81.65 (n)
  • 80.37 (a)
PMS2 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PMS2 35
  • 82.3 (n)
  • 79.23 (a)
PMS2 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pms2 35
  • 80.94 (n)
  • 79.06 (a)
Pms2 16
Pms2 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PMS2 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 70 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
chicken
(Gallus gallus)
Aves PMS2 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PMS2 36
  • 63 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7468 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pms2 35
  • 65.45 (n)
  • 66.99 (a)
zebrafish
(Danio rerio)
Actinopterygii pms2 35
  • 62.64 (n)
  • 61.45 (a)
pms2 36
  • 56 (a)
OneToOne
wufb39g07 35
fruit fly
(Drosophila melanogaster)
Insecta Pms2 36
  • 37 (a)
OneToOne
Pms2 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea pms-2 35
  • 50.62 (n)
  • 43.76 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMS1 36
  • 32 (a)
OneToMany
PMS1 38
rice
(Oryza sativa)
Liliopsida Os.23276 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToOne
Species with no ortholog for PMS2:
  • 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 MAF
rs10000 Benign 5,973,522(-) GCTCT(C/T)AACAC synonymous-codon, reference, nc-transcript-variant
rs1180614 -- 5,973,085(-) ccggc(A/G)gatca downstream-variant-500B
rs1180615 -- 5,972,874(-) ATAGA(A/G)CAAGA downstream-variant-500B
rs1802683 Benign 5,973,418(-) CCTGG(C/G)TGTCA missense, reference, nc-transcript-variant
rs1805318 untested, - 5,986,976(-) TAAAT(A/T)CTCAG reference, missense, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
nsv436904 CNV Insertion 17901297
nsv830894 CNV Loss 17160897
nsv7392 OTHER Inversion 18451855
nsv8037 CNV Gain 18304495
esv1914954 OTHER Inversion 16254605

Relevant External Links for PMS2 Gene

HapMap Linkage Disequilibrium report
PMS2
Human Gene Mutation Database (HGMD)
PMS2
Locus Specific Mutation Databases (LSDB)
PMS2

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

Disorders for PMS2 Gene

(2) OMIM Diseases for PMS2 Gene (600259)

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.

(34) Novoseek inferred disease relationships for PMS2 Gene

Disease -log(P) Hits PubMed IDs
lynch syndrome 95.6 30
microsatellite instability 91.9 18
turcot syndrome 86 7
colorectal cancer 84.1 68
hereditary nonpolyposis colon cancer 83.3 2

Relevant External Links for PMS2

GeneTests
PMS2
GeneReviews
PMS2
Genetic Association Database (GAD)
PMS2
Human Genome Epidemiology (HuGE) Navigator
PMS2
genes like me logo Genes that share disorders with PMS2: view

Publications for PMS2 Gene

  1. Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms. (PMID: 11793469) Yuan Z.Q. … Trifiro M. (Hum. Mutat. 2002) 3 4 23
  2. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. (PMID: 16116158) Southey M.C. … Hopper J.L. (J. Clin. Oncol. 2005) 3 23 48
  3. Common variants in mismatch repair genes and risk of invasive ovarian cancer. (PMID: 16774946) Song H. … Gayther S.A. (Carcinogenesis 2006) 3 23 48
  4. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. (PMID: 16885385) Hampel H. … de la Chapelle A. (Cancer Res. 2006) 3 23 48
  5. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. (PMID: 17312306) Lagerstedt Robinson K. … Lindblom A. (J. Natl. Cancer Inst. 2007) 3 23 48

Products for PMS2 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate PMS2
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for PMS2
    • Block miRNA regulation of PMS2 using miScript Target Protectors
    • Addgene plasmids for PMS2

    Sources for PMS2 Gene

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