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PMS2 Gene

protein-coding   GIFtS: 68
GCID: GC07M006016

PMS2 Postmeiotic Segregation Increased 2 (S. Cerevisiae)

(Previous name: postmeiotic segregation increased (S. cerevisiae) 2)
(Previous symbol: PMSL2)
  See PMS2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
PMS2 Postmeiotic Segregation Increased 2 (S. Cerevisiae)1 2     Postmeiotic Segregation Increased (S. Cerevisiae) 21
PMSL21 2 3 5     H_DJ0042M02.92
DNA Mismatch Repair Protein PMS22 3     PMS2CL2
PMS1 Protein Homolog 22 3     Mismatch Repair Endonuclease PMS22
HNPCC42 5     EC 3.1.-.-3

External Ids:    HGNC: 91221   Entrez Gene: 53952   Ensembl: ENSG000001225127   OMIM: 6002595   UniProtKB: P542783   

Export aliases for PMS2 gene to outside databases

Previous GC identifers: GC07M005657 GC07M005758 GC07M005759 GC07M005786 GC07M005979


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pms2-related turcot syndrome, and pms2-related lynch syndrome. GO annotations related to this gene include ATPase activity and endonuclease activity. An important paralog of this gene is PMS1.

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. 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


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   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

SwitchGear Promoter luciferase reporter plasmids (see all 2): PMS2 promoter sequence
   Search Chromatin IP Primers for PMS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 7p22.1

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M006016:  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     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
changing throughout the cell cycle and within subnuclear domains. Interacts with MTMR15/FAN1
3 PDB 3D structures from and Proteopedia for PMS2:
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   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PMS2: NX_P54278

Explore proteomics data for PMS2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys146
  • Modification sites at PhosphoSitePlus

  • See PMS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000526.1  
    ENSEMBL proteins: 
     ENSP00000265849   ENSP00000371758   ENSP00000384308   ENSP00000392843  

    PMS2 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for PMS2

     
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    Cloud-Clone Corp. ELISAs for PMS2
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    Search eBioscience for ELISAs for PMS2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR002099 DNA_mismatch_repair_fam
     IPR020568 Ribosomal_S5_D2-typ_fold
     IPR014762 DNA_mismatch_repair_CS
     IPR003594 HATPase_ATP-bd
     IPR028831 PMS2/PMS2L

    Graphical View of Domain Structure for InterPro Entry P54278

    ProtoNet protein and cluster: P54278

    2 Blocks protein domains:
    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


    Find genes that share domains with PMS2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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. 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

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

         Enzyme Number (IUBMB): EC 3.1.-.-1

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA10871409
    GO:0003697contributes to single-stranded DNA binding IDA11809883
    GO:0004519endonuclease activity IEA--
    GO:0005515protein binding IPI11793469
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with PMS2           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pms2):
     cellular  digestive/alimentary  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  reproductive system  tumorigenesis 

    Find genes that share phenotypes with PMS2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pms2tm1Lisk for PMS2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PMS2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PMS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PMS2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PMS2

    miRNA
    Products:
        
    miRTarBase miRNAs that target PMS2:
    hsa-mir-96-5p (MIRT048727), hsa-mir-324-5p (MIRT043223)

    Block miRNA regulation of human, mouse, rat PMS2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PMS2
    SwitchGear 3'UTR luciferase reporter plasmidPMS2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PMS2
    Predesigned siRNA for gene silencing in human, mouse, rat PMS2

    Gene Editing
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    Clone
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    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
    Addgene plasmids for PMS2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMS2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PMS2_HUMAN, P54278: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0015630microtubule cytoskeleton IDA--
    GO:0032300mismatch repair complex IBA--

    Find genes that share ontologies with PMS2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PMS2 About    
    See pathways by source

    SuperPathContained pathways About
    1Telomere C-strand (Lagging Strand) Synthesis
    Mismatch repair0.56
    Mismatch Repair in Eukaryotes0.54
    2Selected targets of p53
    Selected targets of p53
    3Fanconi anemia pathway (KEGG)
    Fanconi anemia pathway
    4Direct p53 effectors
    Direct p53 effectors


    Find genes that share SuperPaths with PMS2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PMS2
        Mismatch Repair in Eukaryotes

    1 BioSystems Pathway for PMS2
        Direct p53 effectors


    2 Kegg Pathways  (Kegg details for PMS2):
        Mismatch repair
    Fanconi anemia pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PMS2: 
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PMS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PMS2 (P542781, 2, 3 ENSP000002658494) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLH1P406921, 2, 3, ENSP000002317904EBI-1162561,EBI-744248 MINT-5115348 MINT-5115404 MINT-5115319 MINT-5115375 I2D: score=14 STRING: ENSP00000231790
    BRIP1Q9BX632, 3, ENSP000002590084MINT-5115348 MINT-5115404 MINT-5115319 MINT-5115375 I2D: score=1 STRING: ENSP00000259008
    BRCA1P383982MINT-5115348 MINT-5115319 MINT-5115375
    MSH2P432463, ENSP000002331464I2D: score=5 STRING: ENSP00000233146
    PCNAP120043, ENSP000003684384I2D: score=2 STRING: ENSP00000368438
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IBA--
    GO:0006281DNA repair ----
    GO:0006298mismatch repair IDA10871409
    GO:0006974cellular response to DNA damage stimulus ----
    GO:0007131reciprocal meiotic recombination IBA--

    Find genes that share ontologies with PMS2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PMS2

    2 DrugBank Compounds for PMS2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5'-Diphosphate-- 20398-34-9target----
    Phosphothiophosphoric Acid-Adenylate Ester-- --target----

    5 Novoseek inferred chemical compound relationships for PMS2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mhs-2 85.6 2 9616736 (1), 7576988 (1)
    crcs 54.7 2 15887099 (2)
    biotin 5.48 3 16540742 (2), 12610360 (1)
    paraffin 5.26 1 12400605 (1)
    oxygen 3.13 1 12697826 (1)



    Find genes that share compounds with PMS2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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_000535
    7 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
    ENST00000441476
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      QuantiTect SYBR Green Assays in human, mouse, rat PMS2
      QuantiFast Probe-based Assays in human, mouse, rat PMS2

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 117):

    AW609798 AA199618 BU689505 BM453314 F02860 F04447 BM701781 AW269204 
    AB116525 F08204 BQ775383 AI686291 F10880 CB137543 BQ045117 AI380318 
    BC041364 BV186169 AK125607 T36269 T31476 AA775033 F08649 BU542751 

    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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PMS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGACACATCG
    PMS2 Expression
    About this image

    PMS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PMS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632637
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PMS2: 
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

    Primer
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    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 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PMS2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pms21 , 5 postmeiotic segregation increased 2 (S. cerevisiae)1, 5 80.94(n)1
    79.06(a)1
      5 (82.82 cM)5
    188611  NM_008886.21  NP_032912.21 
     1439099645 
    chicken
    (Gallus gallus)
    Aves PMS26
    PMS2 postmeiotic segregation increased 2 (S. cerev...
    64(a)
    1 ↔ 1
    14(977558-989310) ENSGALG00000003430
    lizard
    (Anolis carolinensis)
    Reptilia PMS26
    PMS2 postmeiotic segregation increased 2 (S. cerev...
    63(a)
    1 ↔ 1
    GL343507.1(234422-257759)
    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 Pms23 mismatch repair 41(a)   51F11   --
    worm
    (Caenorhabditis elegans)
    Secernentea pms-21 pms-2 50.62(n)
    43.76(a)
      179587  NM_073532.3  NP_505933.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMS1(YNL082W)4 ATP-binding protein required for mismatch repair in more   --   14(473391-476012) 855642  NP_014317.2 
    rice
    (Oryza sativa)
    Liliopsida Os.232762 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.88(n)    AK102601.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PMS2 gene
    PMS12  
    13 SIMAP similar genes for PMS2 using alignment to 6 protein entries:     PMS2_HUMAN (see all proteins):
    DKFZp686J1569    PMS2CL    PMS5    LOC401379    PMS2P11    PMS2P2
    PMS8    LOC389527    PMS2L15    PMS2L5    PMS2P5    PMS2L4
    PMS7

    Find genes that share paralogs with PMS2           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for PMS2 (see all 15)
    PGOHUM00000250872 PGOHUM00000250879 PGOHUM00000250880 PGOHUM00000250881 PGOHUM00000250882


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PMS2 (see all 1132)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0668384
    Mismatch repair cancer syndrome (MMRCS)4--see VAR_0668382 S I mis40--------
    rs18053241,2,,4
    C,F,Hnon-pathogenic16026530(-) TCTATG/AAGTTC 3 /I /M mis118Minor allele frequency- A:0.01NA MN NS EA EU 7823
    rs100001,2
    Cnon-pathogenic16059498(-) GCTCTC/TAACAC 3 L syn10--------
    rs18053251,2
    C,Fnon-pathogenic16064594(-) GGCTTT/CGATTT 3 /F syn11Minor allele frequency- C:0.40NA 86
    rs18053181,2,,4
    C,F,Hnon-pathogenic16072952(-) TAAATA/TCTCAG 3 T S mis1 ese314Minor allele frequency- T:0.01NA MN NS EA EU 7361
    rs22280071,2,,4
    C,F,Onon-pathogenic16073210(-) CAGACA/GCGGGC 3 T A mis14Minor allele frequency- G:0.02MN NA EU 5930
    rs637506851,2
    C,Fnon-pathogenic16073304(-) AGTCAC/GGGACC 3 H Q mis12Minor allele frequency- G:0.01NA EU 5865
    rs18053211,2,,4
    C,F,Hnon-pathogenic16073333(-) TGAGAC/TCTCAG 3 P S mis1 ese319Minor allele frequency- T:0.35NA MN NS EA WA EU 7227
    rs18053191,2
    C,F,Hnon-pathogenic16083325(-) TGTTCA/C/GGATGC 3 S syn127NA MN NS EA WA CSA EU 8195
    rs624561821,2
    C,Fnon-pathogenic16085067(+) TGAAGT/CAACCG 2 -- int18Minor allele frequency- C:0.40WA NA CSA EA EU 1688

    HapMap Linkage Disequilibrium report for PMS2 (6012870 - 6048756 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for PMS2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436904CNV Insertion17901297
    nsv830894CNV Loss17160897
    nsv8037CNV Gain18304495
    esv1914954OTHER Inversion16254605
    nsv7392OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): PMS2
    Locus Specific Mutation Databases (LSDB): PMS2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PMS2
    DNA2.0 Custom Variant and Variant Library Synthesis for PMS2

    (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.)
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    OMIM gene information: 600259   
    OMIM disorders: 276300  614337  
    UniProtKB/Swiss-Prot: PMS2_HUMAN, P54278
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Mismatch repair cancer syndrome (MMRCS) [MIM:276300]: 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 10 diseases for PMS2:    
    About MalaCards
    pms2-related turcot syndrome    pms2-related lynch syndrome    colorectal cancer, hereditary nonpolyposis, type 4    turcot syndrome
    familial hyperaldosteronism    lynch syndrome    muir-torre syndrome    colorectal cancer, hereditary nonpolyposis, type 1
    colorectal cancer    colon cancer

    4 diseases from the University of Copenhagen DISEASES database for PMS2:
    Lynch syndrome     Colorectal cancer     Endometrial cancer     Familial adenomatous polyposis

    Find genes that share disorders with PMS2           About GenesLikeMe

    Selected Novoseek inferred 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
    GeneReviews: PMS2
    Genetic Association Database (GAD): PMS2
    Human Genome Epidemiology (HuGE) Navigator: PMS2 (39 documents)

    Export disorders for PMS2 gene to outside databases

    (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 10 sources (see all 300):
    (articles sorted by number of sources associating them with PMS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. (PubMed id 8072530)1, 2, 3 Nicolaides N.C.... Kinzler K.W. (Nature 1994)
    2. 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. (Hum. Mutat. 2007)
    3. 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. (PubMed id 19526325)1, 4, 9 Berginc G....Glavac D. (Fam. Cancer 2009)
    4. Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms. (PubMed id 11793469)1, 2, 9 Yuan Z.Q.... Trifiro M. (Hum. Mutat. 2002)
    5. High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers. (PubMed id 18841495)1, 4, 9 Grindedal E.M....ller P. (Fam. Cancer 2009)
    6. Prediction of Lynch syndrome in consecutive patients with colorectal cancer. (PubMed id 19244167)1, 4, 9 Green R.C....Younghusband H.B. (J. Natl. Cancer Inst. 2009)
    7. Common germline variation in mismatch repair genes and survival after a diagnosis of colorectal cancer. (PubMed id 19115210)1, 4, 9 Koessler T....Pharoah P.D. (Int. J. Cancer 2009)
    8. Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients. (PubMed id 18723338)1, 4, 9 Mann A....Song H. (Eur. J. Cancer 2008)
    9. Common variants in mismatch repair genes and risk of colorectal cancer. (PubMed id 18364438)1, 4, 9 Koessler T....Pharoah P.D. (Gut 2008)
    10. Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. (PubMed id 17312306)1, 4, 9 Lagerstedt Robinson K....Lindblom A. (J. Natl. Cancer Inst. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

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

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    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 dbhttp://www.nfdht.nl/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PMS2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



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