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PMS2 Gene

protein-coding   GIFtS: 72

GC07M005979
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
(Previous name: postmeiotic segregation increased (S. cerevisiae) 2 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: PMSL2)
Services    

Aliases &
Descriptions
for PMS2

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
EC 3.1.-.- 3
HNPCC4 1, 2, 5
H_DJ0042M02.9 1, 2
PMS2CL 2
PMSL2 2, 3, 5
Descriptions
DNA mismatch repair protein 2
DNA mismatch repair protein PMS2 3
PMS1 protein homolog 2 3
PMS2 postmeiotic segregation increased 2 2
PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 2
mismatch repair endonuclease 2
postmeiotic segregation increased (S. cerevisiae) 2 1
External Ids
HGNC: 91221
Entrez Gene: 53952
UniProtKB: P542783
Ensembl: ENSG000001225127
Search outside databases for aliases for PMS2 gene

Previous GC identifers: GC07M005657 GC07M005758 GC07M005759 GC07M005786

Summaries
for PMS2

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for PMS2:
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]

UniProtKB/Swiss-Prot: PMS2_HUMAN, P54278
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. 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 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

Genomic Location
for PMS2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PMS2 gene  

Entrez Gene cytogenetic band: 7p22.2   Ensembl cytogenetic band:  7p22.1   HGNC cytogenetic band: 7p22.1

PMS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M005979:     (about GC identifiers)

Start:
 5,979,396 bp from pter
End:
 6,015,263 bp from pter
Size:
 35,868 bases
Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 6,059,215-6,095,082     
RefSeq DNA sequence:
NC_000007.12  NT_007819.16  NT_079592.2  

Proteins
for PMS2

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: PMS2_HUMAN, P54278 (See protein sequence)
Recommended Name: Mismatch repair endonuclease PMS2  
Size: 862 amino acids; 95798 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 changing throughout the cell cycle and within
subnuclear domains
Subcellular location: Nucleus
PDB structures from and Proteopedia :
1EA6 (3D)    1H7S (3D)    1H7U (3D)    
Secondary accessions: B2R610 Q52LH6 Q5FBW9 Q5FBX1 Q5FBX2 Q75MR2
Alternative splicing: 4 isoforms:  P54278-1   P54278-2   P54278-3   P54278-4   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_000526.1  

    ENSEMBL proteins: 
    ENSP00000384308 ENSP00000383971 ENSP00000371759 ENSP00000265849 ENSP00000371758 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (PMS2)
    Human Recombinant Proteins from Abnova (PMS2)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    1 Gene Ontology (GO) cellular component term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IC10871409
    About this table

    Antibodies for PMS2: 
    Invitrogen Antibodies for PMS2
    Millipore Mono- and Polyclonal Antibodies for the study of PMS2
    Sigma-Aldrich Antibodies for PMS2
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (PMS2), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (PMS2)
    Novus Biologicals Antibodies for PMS2

    Assays for PMS2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for PMS2

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro domains/families (see all 8 ):
     IPR003594 ATP_bd_ATPase
     IPR014762 DNA_mismatch_repair_CS
     IPR013507 DNA_mismatch_repair_C
     IPR014763 DNA_mismatch_repair_N
     IPR014790 MutL_C


       GeneDecks  PMS2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P54278

    ProtoNet protein and cluster: P54278

    2 Blocks protein families:
    IPB002099 DNA mismatch repair protein
    IPB003594 ATP-binding region


    UniProtKB/Swiss-Prot: PMS2_HUMAN, P54278
    Similarity: Belongs to the DNA mismatch repair mutL/hexB family

    Gene Function
    for PMS2

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (PMS2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PMS2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000535

                  Applied Biosystems Silencer® siRNAs for PMS2

                  Sigma-Aldrich siRNA and siRNA Panels for PMS2  
                         Sigma-Aldrich shRNA for PMS2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for PMS2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000535
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000535
                                     untagged cDNA clone in CMV expression vector: NM_000535 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000535

    UniProtKB/Swiss-Prot: PMS2_HUMAN, P54278
    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. 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 DNA damage signaling, a process which
    induces cell cycle arrest and can lead to apoptosis in case of major DNA damages
    Enzyme Number (IUBMB): EC 3.1.-.- 

    Genatlas biochemistry entry for PMS2:
    postmeiotic segregation increased 2,yeast mutator gene homolog (bacterial mutL) heterodimerizing
    with MLH1,involved in mismatch repair

    2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Pms2):

    reproductive systemtumorigenesis

    5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677 DNA binding IDA10871409
    GO:0003697contributes to single-stranded DNA binding IDA11809883
    GO:0004519 endonuclease activity IEA--
    GO:0005515 protein binding IPI11793469
    GO:0005524 ATP binding IEA--
    About this table

    Pathways & Interactions
    for PMS2

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for PMS2
     Selected targets of p53

       GeneDecks  PMS2 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for PMS2):
     hsa03430 Mismatch repair

       GeneDecks  PMS2 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  PMS2 


    5/19 Interacting proteins for PMS2 (P542781, 2 ENSP000002658493) via UniProtKB, MINT, and/or STRING (see all 19 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRIP1Q9BX632, ENSP000002590083MINT-5115348 MINT-5115404 MINT-5115319 MINT-5115375 STRING (score=.778)
    BRCA1P383982, ENSP000003502833MINT-5115348 MINT-5115319 MINT-5115375 STRING (score=.719)
    MLH1P406921, 2, ENSP000002317903EBI-1162561, EBI-744248 MINT-5115348 MINT-5115404 MINT-5115319 MINT-5115375 EBI-1162561, EBI-744248 MINT-5115348 MINT-5115404 MINT-5115319 MINT-5115375 STRING (score=.999)
    MLH1P406921, 2, ENSP000002317903EBI-1162561, EBI-744248 MINT-5115348 MINT-5115404 MINT-5115319 MINT-5115375 EBI-1162561, EBI-744248 MINT-5115348 MINT-5115404 MINT-5115319 MINT-5115375 STRING (score=.999)
    MLH1P406921, 2, ENSP000002317903EBI-1162561, EBI-744248 MINT-5115348 MINT-5115404 MINT-5115319 MINT-5115375 EBI-1162561, EBI-744248 MINT-5115348 MINT-5115404 MINT-5115319 MINT-5115375 STRING (score=.999)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006298 mismatch repair IDA10871409
    GO:0006974 response to DNA damage stimulus IEA--
    GO:0045786 negative regulation of cell cycle IEA--
    About this table

    Drugs & Compounds
    for PMS2

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for PMS2
    3 Novoseek chemical compound relationships for PMS2 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    mhs-2 86.83 2 9616736 (1), 7576988 (1)
    crcs 52.01 2 15887099 (2)
    oxygen 4.20 1 12697826 (1)
    About this table


    Transcripts
    for PMS2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (PMS2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (PMS2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000535

                  Sigma-Aldrich siRNA and siRNA Panels for PMS2  
                         Sigma-Aldrich shRNA for PMS2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000535  

    REFSEQ mRNAs for PMS2 gene: 

    NM_000535.5   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000535  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000535
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000535
                                     untagged cDNA clone in CMV expression vector: NM_000535 

    Additional cDNA sequence: 

    AB103082.1 AB103083.1 AB103085.1 AB103086.1 AK294661.1 AK312390.1 BC008400.1 BC031832.1 
    BC093921.1 BC143397.1 U14658.1 

    12 DOTS entries:

    DT.121093626  DT.97860958  DT.454969  DT.121093689  DT.121093639  DT.101987277  DT.95144670  DT.91919393 
    DT.92469736  DT.100736636  DT.121093579  DT.95144666 

    24/117 AceView cDNA sequences (see all 117 ):

    BM701781 F08204 AW269204 F02860 BU689505 AW609798 AA199618 F04447 
    AB116525 BM453314 BE763779 BU193656 AI085367 BU622416 AK125607 T08187 
    AI803514 BE304459 BF513174 AI539402 CB137543 BG832185 BG681324 AI860703 

    highest scoring ESTs for PMS2:

    AA077054 BF327250 U14658 AA206606 AA297413 AL699728 AL701903 AL702122 AL708946 AU280501 

    Unigene Cluster for PMS2:

    PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
    Hs.632637  [show with all ESTs]
    Unigene Representative Sequence: NM_000535


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for PMS2

    5 Ensembl transcripts including schematic representations:
    ENST00000406569  ENST00000403974  ENST00000382322  ENST00000265849  ENST00000382321  

    Expression
    for PMS2

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    PMS2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for PMS2

    1 / 2 / 3

    11 probe-sets matching PMS2 gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    		38556_at2, 3 U95-A 2 1.00 0.50 0.64 0.62 U14658 1.00 0.80 0.91 1

    		2015_s_at2, 3 U95-A 2 1.00 0.50 0.87 0.92 U14658 1.00 0.80 0.91 1

    		526_s_at2, 3 U95-A 2 1.00 0.50 0.39 1.00 U13696 0.20 0.50 0.38 1

    		91244_at2, 3 U95-E 2 1.00 0.50 0.71 1.53 AI686291 0.40 0.33 0.37 2

    		32310_f_at2, 3 U95-A 12 0.88 0.15 0.78 1.16 AI341574 0.20 0.04 0.14 3

    		32311_r_at2, 3 U95-A 1 0.44 1.00 0.82 0.43 AI341574 0.20 0.04 0.14 3

    		90795_at*2, 3 U95-E 2 1.00 0.50 0.01 1.38 AA112409 0.20 0.50 0.38 1

    		209805_at2, 3 U133-A 2 1.00 0.50 -- -- U14658 1.00 0.80 0.91 1

    		221206_at2 U133-A 2 1.00 0.50 -- -- -- -- -- -- --

    		209805_at2 U133Plus2 2 1.00 0.50 -- -- -- -- -- -- --

    		221206_at2 U133Plus2 2 1.00 0.50 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AGACACATCG

    SOURCE GeneReport for Unigene cluster: Hs.632637

    Expression variation in blood from EXPOLDB for PMS2

    Orthologs
    for PMS2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for PMS2 gene from 5/18 species (see all 18 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 PMS21   -- PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 82.33(n)
    79.08(a)    		 479751  XM_536879.2  XP_536879.2 
    chimpanzee
    (Pan troglodytes)    		 PMS21   -- PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 98.92(n)
    98.61(a)    		 463257  XM_001141671.1  XP_001141671.1 
    cow
    (Bos taurus)    		 PMS21   -- PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 81.65(n)
    80.37(a)    		 527039  XM_605426.3  XP_605426.3 
    rat
    (Rattus norvegicus)    		 Pms21   -- PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 80.61(n)
    77.91(a)    		 288479  XM_213712.4  XP_213712.4 
    mouse
    (Mus musculus)    		 Pms21, 5 5 (82.00 cM)5
    		 postmeiotic segregation increased 2 (S. cerevisiae)1, 5 80.56(n)1
    78.81(a)1    		 188611  NM_008886.21  NP_032912.21 
     AK0178475  AK0830495  (see all 21)
    About this table        Species with no ortholog for PMS2

    ENSEMBL Gene Tree for PMS2

    Paralogs
    for PMS2

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for PMS2 gene
    PMS2L12  ENSG000001743842  PMS2L22  PMS2L52  PMS12  

    SNPs/Variants
    for PMS2

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/375 NCBI SNPs in PMS2 are shown (see all 375 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 23)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 7 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    --
    rs22280061,2
    		A,C,F,H5993301(-) CGCCTG/AAAACT 1 K/E mis16Minor allele frequency- A:0.07MN EU EA WA 1944
    --
    rs18053241,2
    		C,F,H5993056(-) TCTATG/AAGTTC 1 I/M mis110Minor allele frequency- A:0.01NA MN EU EA WA 1092
    --
    rs18053181,2
    		C,F,H5993133(-) TAAATA/TCTCAG 1 T/S mis1 ese310Minor allele frequency- T:0.01NA MN EU EA WA 1104
    --
    rs18053211,2
    		C,F,H5993514(-) TGAGAC/TCTCAG 1 P/S mis1 ese37Minor allele frequency- T:0.15NA MN EU EA WA 756
    --
    rs18053191,2
    		C,F6003506(-) TGTTCG/CGATGC 2 /S fra11Minor allele frequency- C:0.24NA 92
    --
    rs18053231,2
    		C,F5993468(-) CCCTAC/AGGACA 1 K/T mis1 ese31Minor allele frequency- A:0.05NA 92
    rs18053221,2
    		C,H6001764(-) ATGCAC/AGCATG 1 K/T mis1 ese35Minor allele frequency- A:0.00NA EU EA WA 512
    --
    rs174208021,2
    		F5983866(-) TAAAAA/GCTGGA 1 N/S mis1 ese31Minor allele frequency- G:0.17MN 184
    --
    rs22280071,2
    		O5993391(-) CAGACA/GCGGGC 1 T/A mis11Minor allele frequency- G:0.01MN 66
    --
    rs125328951,2
    		C,F,H6009912(+) AGGTCG/AGCAAA 1 A/A syn1 ese34Minor allele frequency- A:0.13EU EA WA 402
    About this table

    HapMap Linkage Disequilibrium images for PMS2 (up to first 250kb)

    Disorders & Mutations
    for PMS2

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 600259

    UniProtKB/Swiss-Prot: PMS2_HUMAN, P54278

  • Defects in PMS2 are the cause of hereditary non-polyposis colorectal cancer type 4
    (HNPCC4) [MIM:600259]. 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 MSH2 genes. 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 cancers 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, and
    accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps
    termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: 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 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
  • Defects in PMS2 are a cause of mismatch repair cancer syndrome (MMRCS) [MIM:276300]; also
    known as Turcot syndrome and brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an autosomal
    dominant disorder characterized by malignant tumors of the brain associated with multiple
    colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots

    • 10/34 Novoseek disease relationships for PMS2 gene (see all 34 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    lynch syndrome 94.50 22 19132747 (3), 18030674 (1), 17453009 (1), 15872200 (1) (see all 16)
    microsatellite instability 91.02 17 15887099 (2), 16879751 (1), 18781192 (1), 12684669 (1) (see all 15)
    hereditary nonpolyposis colon cancer 84.72 2 10671064 (1), 8666379 (1)
    turcot syndrome 84.42 6 11102987 (2), 17389002 (1), 10763829 (1), 16136382 (1) (see all 5)
    colorectal cancer 83.48 73 15887124 (3), 9683794 (3), 18030674 (2), 16166421 (2) (see all 45)
    endometrial cancer 74.18 2 17327285 (1), 18841495 (1)
    germ-line mutation 67.86 8 15872200 (2), 19105568 (1), 9709044 (1), 18415027 (1) (see all 6)
    neurofibromatosis type 1 64.49 3 15340263 (2), 17851451 (1)
    colorectal tumors 60.84 3 17389002 (1), 16472587 (1)
    cancer 54.97 22 16507833 (2), 15887099 (2), 9500552 (1), 18030674 (1) (see all 19)
    About this table

    GeneTests: PMS2
    Hereditary Non-Polyposis Colon Cancer

    Human Gene Mutation Database: PMS2
    Genetic Association Database: PMS2
    Human Genome Epidemiology Navigator: PMS2 (19 documents)

    Medical News
    for PMS2

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for PMS2

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/210 PubMed articles for PMS2 gene (see all 210 ):

    Search for PMS2

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PMS2

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 5395 HGNC: 9122 AceView: LOC441194 Ensembl:ENSG00000122512 euGenes: HUgn5395
    ECgene: PMS2 H-InvDB: PMS2

    Other Databases showing PMS2

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing PMS2

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for PMS2 Genetics and Cytogenetics in Oncology and Haematology
    Hereditary non-polyposis colorectal cancer dbhttp://www.nfdht.nl/
    GeneReviewshttp://www.genetests.org/query?gene=PMS2

    Licensable Technologies
    for PMS2

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for PMS2

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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