PMS2 Gene
protein-coding GIFtS: 67
GCID: GC07M005979
|
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)(Previous name: postmeiotic segregation increased (S. cerevisiae) 2 )
(Previous symbol: PMSL2)
| |
Aliases
for PMS2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| PMS2 Postmeiotic Segregation Increased 2 (S. Cerevisiae)1 2 | | PMS1 Protein Homolog 22 3 | | PMSL21 2 3 5 | | Postmeiotic Segregation Increased (S. Cerevisiae) 21 | | HNPCC41 2 5 | | PMS2CL2 | | H_DJ0042M02.91 2 | | Mismatch Repair Endonuclease PMS22 | | DNA Mismatch Repair Protein PMS22 3 | | EC 3.1.-.-3 |
Export aliases for PMS2 gene to outside databasesPrevious GC identifers: GC07M005657 GC07M005758 GC07M005759 GC07M005786 |
Summaries
for PMS2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for PMS2:
This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene isinvolved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexesbound 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 transcriptvariants have been observed for this gene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: PMS2_HUMAN, P54278Function: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutLalpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, thenMutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFCand PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatchand thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNAmethylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to becorrected. MulL 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 DNAdamage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages
Gene Wiki entry for PMS2
|
Genomic Views
for PMS2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007819.17 NT_079592.2
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PMS2 gene promoter:
Oct-B1 oct-B3 oct-B2 NF-kappaB POU2F2 MZF-1 FAC1 POU2F1 POU2F1a NF-kappaB1
Other transcription factors
Search SABiosciences Chromatin IP Primers for PMS2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PMS2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7p22.2 Ensembl cytogenetic band: 7p22.1 HGNC cytogenetic band: 7p22.1PMS2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M005979: view genomic region
(about GC identifiers)
Start:
|
6,012,870 bp from pter |
End:
|
6,048,756 bp from pter |
Size:
|
35,887 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 6,059,215-6,095,082 |
|
Proteins
for PMS2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: PMS2_HUMAN, P54278 (See
protein sequence)Recommended Name: Mismatch repair endonuclease PMS2 Size: 862 amino acids; 95797 Da
Subunit: 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 changingthroughout the cell cycle and within subnuclear domains. Interacts with MTMR15/FAN1
Subcellular location: Nucleus
3 PDB 3D structures from  and Proteopedia  for PMS2:1EA6 (3D)
1H7S (3D)
1H7U (3D)
Secondary accessions: B2R610 Q52LH6 Q5FBW9 Q5FBX1 Q5FBX2 Q75MR2Alternative splicing: 4 isoforms: P54278-1 P54278-2 P54278-3 P54278-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for PMS2: NX_P54278
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P54278
PMS2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000526.1
ENSEMBL proteins: ENSP00000265849 ENSP00000371758 ENSP00000384308 ENSP00000371759 ENSP00000392843
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
PMS2 for ontologies About GeneDecksing
PMS2 Antibody Products:
Assay Products for PMS2: |
Protein
Domains /
Families
for PMS2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PMS2 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry P54278ProtoNet protein and cluster: P54278 2 Blocks protein families: IPB002099 DNA mismatch repair protein IPB003594 ATP-binding region
UniProtKB/Swiss-Prot: PMS2_HUMAN, P54278Similarity: Belongs to the DNA mismatch repair MutL/HexB family |
Function
for PMS2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: PMS2_HUMAN, P54278Function: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutLalpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, thenMutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFCand PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatchand thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNAmethylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to becorrected. MulL 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 DNAdamage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages Genatlas biochemistry entry for PMS2:postmeiotic segregation increased 2,yeast mutator gene homolog (bacterial mutL) heterodimerizing with MLH1,involved inmismatch repair
Enzyme Number (IUBMB): EC 3.1.-.-1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PMS2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PMS2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for PMS2 | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PMS2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PMS2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMS2 |
Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table
PMS2 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Pms2tm1Lisk for PMS2
9 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Pms2):
PMS2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for PMS2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Lagging Strand Synthesis | | | 2 | Direct p53 effectors | | | 3 | Selected targets of p53 | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for PMS2
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for PMS2
1  BioSystems Pathway for PMS2
1 
Kegg Pathway (Kegg details for PMS2):
PMS2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PMS2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/76 Interacting proteins for PMS2 (P542781, 2, 3 ENSP000002658494) via UniProtKB, MINT, STRING, and/or I2D (see all 76)About this table
Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table
PMS2 for ontologies About GeneDecksing
|
Drugs & Compounds
for PMS2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
PMS2 for compounds About GeneDecksing
 Browse Tocris compounds for PMS2
2 DrugBank Compounds for PMS2 About this table
5 Novoseek chemical compound relationships for PMS2 gene About this table
Search CenterWatch for drugs/clinical trials and news about PMS2
|
Transcripts
for PMS2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for PMS2 gene: NM_000535.5 Unigene Cluster for PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae) Hs.632637 [show with all ESTs]Unigene Representative Sequence: NM_0005358 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000265849(uc003spj.3 uc003spk.3 uc003spl.3 uc011jwl.2 uc010ktg.3 uc010kte.3 uc010ktf.2)
ENST00000382321 ENST00000406569 ENST00000469652 ENST00000380416 ENST00000415839
ENST00000382322 ENST00000441476
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PMS2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PMS2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for PMS2 | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PMS2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PMS2 |
Additional cDNA sequence: AB103082.1 AB103083.1 AB103085.1 AB103086.1 AK294661.1 AK312390.1 BC008400.1 BC031832.1 BC093921.1 BC143397.1 NR_003085.2 U14658.1 10 DOTS entries: DT.121093626 DT.97860958 DT.454969 DT.121093689 DT.121093639 DT.101987277 DT.92469736 DT.95144666 DT.95144670 DT.91919393 24/117 AceView cDNA sequences (see all 117): F02860 BU689505 AW609798 F04447 AB116525 F08204 BM453314 AW269204 AA199618 BM701781 AI744103 BG681324 BU728992 AI266456 BU557081 AA151555 AI686291 AW148510 BV183959 BF568181 AI972662 BE304459 BQ045117 BC041364
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for PMS2 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for PMS2
|
Expression
for PMS2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| PMS2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGACACATCG
About this image
See PMS2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PMS2
SOURCE GeneReport for Unigene cluster: Hs.632637
SABiosciences Expression via Pathway-Focused PCR Arrays including PMS2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PMS2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PMS2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PMS2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PMS2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMS2 |
Orthologs
for PMS2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for PMS2 gene from 10/33 species (see all 33) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
PMS26 |
Uncharacterized protein |
66(a) |
1 ↔ 1 |
14(976809-989190) |
lizard
(Anolis carolinensis) |
Reptilia |
PMS26 |
-- |
64(a) |
1 ↔ 1 |
GL343507.1(234422-256706) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.74682 |
Xenopus laevis transcribed sequence with weak similarity more |
76.97(n) |
|
48042535 |
zebrafish
(Danio rerio) |
Actinopterygii |
wufb39g072 |
Transcribed sequence with moderate similarity to protein more |
76.28(n) |
|
57040733 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Pms21 , 3 |
mismatch repair3
CG8169-PA1 |
41(a)3
51.08(n)1
44.69(a)1 |
|
51F113
367051 NM_057675.31 NP_477023.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
pms-21 |
Protein PMS-2 |
46.09(n)
36.35(a) |
|
179587 NM_073532.2 NP_505933.1 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
PMS1(YNL082W)4
PMS11 |
ATP-binding protein required for mismatch repair in more4
Pms1p1 |
46.36(n)1
38.57(a)1 |
|
14(473391-476012)4
8556421, 4 NP_014317.41 NP_014317.24 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
PMS11 |
DNA mismatch repair protein PMS2 |
48.05(n)
40.8(a) |
|
827997 NM_116479.3 NP_567236.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.232762 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
72.88(n) |
|
AK102601.1 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
mutL6 |
methyl-directed mismatch repair protein |
17(a) |
1 → many |
Chromosome(4395435-4397282) b4170 |
ENSEMBL Gene Tree for PMS2 (if available)
TreeFam Gene Tree for PMS2 (if available) |
Paralogs
for PMS2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PMS2 gene
- PMS12
16 SIMAP similar genes for PMS2 using alignment to 7 protein entries: PMS2_HUMAN (see all proteins):DKFZp686J1569 PMS2CL PMS5 PMS2P1 PMS2P11 PMS2P2
PMS8 LOC389527 LOC401379 PMS2L15 PMS2L5 PMS2P5
PMS1 MLH1 PMS2L4 PMS7
PMS2 for paralogs About GeneDecksing
5/15 Pseudogenes.org Pseudogenes for PMS2 (see all 15)
PGOHUM00000250872 PGOHUM00000250879 PGOHUM00000250880 PGOHUM00000250881 PGOHUM00000250882
|
Genomic Variants
for PMS2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 7 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PMS2 (6012870 - 6048756 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for PMS2
3 CNVs: 94358 81857 31329
1 Inversion: 37290
Human Gene Mutation Database (HGMD): PMS2
Locus Specific Mutation Databases (LSDB): PMS2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PMS2 |
|
Disorders
/ Diseases
for PMS2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
PMS2 for disorders About GeneDecksing
OMIM gene information: 600259
OMIM disorders: 276300
UniProtKB/Swiss-Prot: PMS2_HUMAN, P54278
Defects in PMS2 are the cause of hereditary non-polyposis colorectal cancer type 4 (HNPCC4) [MIM:614337].Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype(also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility.It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancersof the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form ofinherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCCoriginate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. TypeI: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon.Type II: patients have an 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 Amsterdamcriteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or moregeneration affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposissyndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or onlypartially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected Defects in PMS2 are a cause of mismatch repair cancer syndrome (MMRCS) [MIM:276300]; also known as Turcotsyndrome or brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an autosomal dominant disorder characterized bymalignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts,hyperpigmented and cafe au lait spots
20/53  diseases for PMS2 (see all 53): About MalaCardscafe-au-lait spots turcot syndrome supratentorial primitive neuroectodermal tumor colorectal cancer, hereditary nonpolyposis, type 4
colorectal cancer primitive neuroectodermal tumor muir-torre syndrome familial adenomatous polyposis
adenomatous polyposis coli neuroectodermal tumors non-hodgkin lymphoma lynch syndrome
familial hyperaldosteronism hyperaldosteronism polyposis systemic lupus erythematosus
wilms tumor lupus erythematosus hodgkin's lymphoma colon cancer
4 diseases from the University of Copenhagen DISEASES database for PMS2:Lynch syndrome Colorectal cancer Endometrial cancer Familial adenomatous polyposis 10/34 Novoseek disease relationships for PMS2 gene (see all 34) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| lynch syndrome |
95.6 |
36 |
19132747 (3), 19672700 (2), 18030674 (1), 19949877 (1) (see all 27) |
| microsatellite instability |
91.9 |
19 |
15887099 (2), 16879751 (1), 18781192 (1), 19293170 (1) (see all 17) |
| turcot syndrome |
86 |
7 |
11102987 (2), 17389002 (1), 10763829 (1), 19039682 (1) (see all 6) |
| colorectal cancer |
84.1 |
85 |
19752738 (3), 15887124 (3), 9683794 (3), 18030674 (2) (see all 55) |
| hereditary nonpolyposis colon cancer |
83.3 |
2 |
10671064 (1), 8666379 (1) |
| endometrial cancer |
77.1 |
6 |
19515405 (1), 19752738 (1), 19723918 (1), 17327285 (1) (see all 6) |
| germ-line mutation |
69.8 |
9 |
15872200 (2), 19105568 (1), 9709044 (1), 16885385 (1) (see all 7) |
| neurofibromatosis type 1 |
64.9 |
4 |
15340263 (2), 19293170 (1), 17851451 (1) |
| colorectal tumors |
57.6 |
3 |
17389002 (1), 16472587 (1) |
| cancer |
55.4 |
28 |
16507833 (2), 15887099 (2), 9500552 (1), 18030674 (1) (see all 25) |
GeneTests: PMS2
Hereditary Non-Polyposis Colon Cancer
Genetic Association Database (GAD): PMS2
Human Genome Epidemiology (HuGE) Navigator: PMS2 (39 documents)
Export disorders for PMS2 gene to outside databases
|
Publications
for PMS2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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|
PubMed articles for PMS2 gene, integrated from 9 sources (see all 286):
(articles sorted by number of sources associating them with PMS2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. (PubMed id 8072530)1, 2, 3 Nicolaides N.C.... Kinzler K.W. (1994)
- Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. (PubMed id 17557300)1, 2, 9 Auclair J....Wang Q. (2007)
- Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms. (PubMed id 11793469)1, 2, 9 Yuan Z.Q.... Trifiro M. (2002)
- Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. (PubMed id 16116158)1, 4, 9 Southey M.C....Hopper J.L. (2005)
- A genetic screen identifies FAN1, a Fanconi anemia-as sociated nuclease necessary for DNA interstrand crosslink repair. (PubMed id 20603073)1, 2 Smogorzewska A....Elledge S.J. (2010)
- A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. (PubMed id 18178629)1, 2 Clendenning M....de la Chapelle A. (2008)
- Direct visualization of asymmetric adenine nucleotide-induced conformational changes in MutL alpha. (PubMed id 18206974)1, 2 Sacho E.J.... Erie D.A. (2008)
- Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. (PubMed id 15077197)1, 2 De Vos M....Bonthron D.T. (2004)
- The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
- BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. (PubMed id 10783165)1, 2 Wang Y.... Qin J. (2000)
|
External Searches for PMS2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing PMS2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
|
Other Databases showing PMS2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PMS2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for PMS2 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for PMS2 | Genetics and Cytogenetics in Oncology and Haematology | | Hereditary non-polyposis colorectal cancer db | http://www.nfdht.nl/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PMS2 |
|
| | |
About This Section
| Patent Information for PMS2 gene:
Search GeneIP for patents involving PMS2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for PMS2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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| | |  | OriGene Antibodies for PMS2 | | OriGene shRNA RFP for PMS2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PMS2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PMS2 | | | OriGene Protein Over-expression Lysate for PMS2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for PMS2 | | OriGene 3'-UTR Clone for PMS2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PMS2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PMS2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for PMS2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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