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PMS2P1 Gene

pseudogene   GIFtS: 32
GCID: GC07M099918

Postmeiotic Segregation Increased 2 Pseudogene 1

(Previous names: postmeiotic segregation increased 2-like 6, postmeiotic...)
(Previous symbols: PMS2L6, PMS2L8, PMS2L7, PMS2L1)
  Search for PMS2P1
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
Postmeiotic Segregation Increased 2 Pseudogene 11 2     Postmeiotic Segregation Increased 2-Like 71
PMS2L11 2 3     Postmeiotic Segregation Increased 2-Like 81
PMS2L61 2 3     PMSR12
PMS2L81 2 3     hPMS33
PMS2L71 2     PMS2-Related Protein 23
PMS2L132 3     Postmeiotic Segregation Increased 2-Like Protein 133
PMS32 3     Postmeiotic Segregation Increased 2-Like Protein 63
PMS82 3     Postmeiotic Segregation Increased 2-Like Protein 83
PMSR22 3     Postmeiotic Segregation Increased Protein 33
Postmeiotic Segregation Increased 2-Like 11     Postmeiotic Segregation Increased Protein 83
Postmeiotic Segregation Increased 2-Like 1 Pseudogene1     Putative Postmeiotic Segregation Increased 2 Pseudogene 13
Postmeiotic Segregation Increased 2-Like 61     

External Ids:    HGNC: 91231   Entrez Gene: 53792   Ensembl: ENSG000000783197   OMIM: 6050385   UniProtKB: A4D2B83   

Export aliases for PMS2P1 gene to outside databases

Previous GC identifers: GC07M099278 GC07M099899


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PMS2P1 Gene:
PMS2P1 (postmeiotic segregation increased 2 pseudogene 1) is a pseudogene. GO annotations related to this gene include ATPase activity and kinase activity.


(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:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Search for regulatory transcription factor binding sites for PMS2P1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for PMS2P1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PMS2P1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22.1

PMS2P1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PMS2P1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M099918:  view genomic region     (about GC identifiers)

Start:
99,918,263 bp from pter      End:
99,939,531 bp from pter
Size:
21,269 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 99,278,349-99,294,016     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for PMS2P1

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: PM2P1_HUMAN, A4D2B8 (See protein sequence)
Recommended Name: Putative postmeiotic segregation increased 2-like protein 1  
Size: 440 amino acids; 47508 Da
Miscellaneous: Encoded by one of the numerous copies of postmeiotic segregation increased 2-like genes scattered
in the q11-q22 region of the chromosome 7
Caution: Could be the product of a pseudogene
Sequence caution: Sequence=AAA97458.1; Type=Erroneous gene model prediction; Sequence=AAA97458.1;
Type=Miscellaneous discrepancy; Note=Several conflicts but it is uncertain if it is due to sequencing errors or
if this sequence is another copy of this gene;
Secondary accessions: Q0VGD2 Q13400 Q16530 Q6NVZ2 Q7KZ90
Alternative splicing: 3 isoforms:  A4D2B8-1   A4D2B8-2   A4D2B8-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PMS2P1: NX_A4D2B8

Explore proteomics data for PMS2P1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PMS2P1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    PMS2P1 Human Recombinant Protein Products:

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    PMS2P1 Assay Products:

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

    Graphical View of Domain Structure for InterPro Entry A4D2B8

    ProtoNet protein and cluster: A4D2B8

    UniProtKB/Swiss-Prot: PM2P1_HUMAN, A4D2B8
    Similarity: Belongs to the DNA mismatch repair MutL/HexB family
    Similarity: Contains 1 histidine kinase domain


    PMS2P1 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003697single-stranded DNA binding IBA--
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity IEA--
    GO:0016887ATPase activity IBA--
    GO:0030983mismatched DNA binding IEA--
         
    PMS2P1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PMS2P1:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PMS2P1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032300mismatch repair complex IBA--
    GO:0032389MutLalpha complex IBA--

    PMS2P1 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PMS2P1
    Interactions:

        Search GeneGlobe Interaction Network for PMS2P1

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IBA--
    GO:0006298mismatch repair IBA--
    GO:0007131reciprocal meiotic recombination IBA--
    GO:0016446somatic hypermutation of immunoglobulin genes IBA--

    PMS2P1 for ontologies           About GeneDecksing



    (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 PMS2P1 (PM2P1)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PMS2P1 gene: 
    NM_005394.1  

    Unigene Clusters for PMS2P1:

    Postmeiotic segregation increased 2 pseudogene 1
    Hs.634244  [show with all ESTs], Hs.661055  [show with all ESTs]
    Unigene Representative Sequences: BC038996, NR_003613
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000431037(uc003uuh.2 uc003uui.2 uc010lgv.1 uc003uuj.1 uc022aik.1)
    ENST00000447708
    miRNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat PMS2P1
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      QuantiFast Probe-based Assays in human, mouse, rat PMS2P1

    Additional mRNA sequence: 

    AB017004.1 AB017005.1 AB017007.1 BC044214.2 BC067809.1 D38435.1 D38499.1 NR_003613.1 
    XR_159179.2 XR_171689.1 

    Selected DOTS entries (see all 61):

    DT.216323  DT.100041750  DT.87077508  DT.95087746  DT.304748  DT.95325304  DT.95144641  DT.121116834 
    DT.92469739  DT.121057666  DT.86847367  DT.95144634  DT.121058299  DT.121116729  DT.121116893  DT.100044486 
    DT.121041938  DT.121057686  DT.429175  DT.87006445  DT.95285438  DT.100810684  DT.101987018  DT.121057991 

    Selected AceView cDNA sequences (see all 97):

    AA844321 BU620584 AA844096 BG477267 BU622696 BF800704 BX095320 AB017004 
    BM714146 BQ221253 BM741455 BM743863 BE675201 CB111334 BE675175 AA447967 
    AI760820 BG334567 BI913883 BF874869 BM743917 BG398558 CD244157 AA459266 

    GeneLoc Exon Structure


    (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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    PMS2P1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGACGCATC
    PMS2P1 Expression
    About this image

    PMS2P1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PMS2P1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.634244 Hs.661055

    UniProtKB/Swiss-Prot: PM2P1_HUMAN, A4D2B8
    Tissue specificity: Highly expressed in kidney, spleen, adrenal gland, ovary and cerebellum and to a lower extent
    in liver, esophagus, stomach, duodenum, colon, bladder, uterus, lung, pancreas and cerebrum. Not expressed in
    heart

        Custom PCR Arrays for PMS2P1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMS2P1

    (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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    ENSEMBL Gene Tree for PMS2P1 (if available)
    TreeFam Gene Tree for PMS2P1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PMS2P1 gene
    15 SIMAP similar genes for PMS2P1 using alignment to 1 protein entry:     PM2P1_HUMAN:
    LOC401379    PMS8    PMS2P5    PMS2L5    PMS5    POLR2J2
    LOC389527    PMS2P11    PMS2P2    C8orf75    DKFZp686J1569    PMS1
    PMS2L15    PMS2L4    PMS7

    PMS2P1 for paralogs           About GeneDecksing



    (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 PMS2P1 (see all 134)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs39915441,2
    C--99920588(-) CTAGCC/TTGGGG 1 -- int10--------
    rs1444672451,2
    --99920925(+) GCGCGC/GTGGCA 1 -- int10--------
    rs1878762741,2
    --99921061(+) ATCACA/GAAAAA 1 -- int10--------
    rs1929659121,2
    --99921163(+) TTTTTA/CTTTTT 1 -- int10--------
    rs1851040421,2
    --99921180(+) GGGGTC/TTTGTG 1 -- int10--------
    rs39915411,2
    C--99921220(-) gagctG/Atgacc 1 -- int12Minor allele frequency- A:0.00NA 4
    rs360336131,2
    C,F--99921243(+) GACTGA/CAGCTC 1 -- int16Minor allele frequency- C:0.16NA EA 248
    rs1888178341,2
    --99921249(+) AGCTCA/TAGCGA 1 -- int10--------
    rs1924800681,2
    --99921473(+) TGGAGA/GTTCCC 1 -- int10--------
    rs1845268771,2
    --99921988(+) GACTCA/CCAAGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for PMS2P1 (99918263 - 99939531 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for PMS2P1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734888CNV Deletion23290073
    esv2734890CNV Deletion23290073
    nsv436898CNV Insertion17901297
    nsv831071CNV Loss17160897
    nsv888774CNV Gain21882294
    esv26986CNV Gain19812545
    nsv428180CNV Gain18775914
    nsv8183CNV Gain+Loss18304495

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PMS2P1
    DNA2.0 Custom Variant and Variant Library Synthesis for PMS2P1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605038    OMIM disorders: --


    PMS2P1 for disorders           About GeneDecksing


    Export disorders for PMS2P1 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 PMS2P1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with PMS2P1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization of the human PMS2 gene family. (PubMed id 8586419)1, 2, 3 Nicolaides N.C.... Kinzler K.W. (Genomics 1995)
    2. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. (PubMed id 15077197)1, 3 De Vos M.... Bonthron D.T. (Am. J. Hum. Genet. 2004)
    3. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    4. The human PMS2L proteins do not interact with hMLH1, a major DNA mismatch repair protein. (PubMed id 10101297)1, 2 Kondo E.... Fukushige S. (J. Biochem. 1999)
    5. Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. (PubMed id 7980603)1, 2 Horii A.... Nakamura Y. (Biochem. Biophys. Res. Commun. 1994)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 5379 HGNC: 9123 AceView: PMS2L1 Ensembl:ENSG00000078319 euGenes: HUgn5379
    ECgene: PMS2P1 H-InvDB: PMS2P1

    (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)
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    NameDescription
    PharmGKB entry for PMS2P1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PMS2P1 gene:
    Search GeneIP for patents involving PMS2P1

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     OriGene Custom Antibody Services for PMS2P1   OriGene Custom Protein Services for PMS2P1  

     
     
     Block miRNA regulation of human, mouse, rat PMS2P1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing PMS2P1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PMS2P1 Predesigned siRNA for gene silencing in human, mouse, rat PMS2P1
     QuantiFast Probe-based Assays in human, mouse, rat PMS2P1 QuantiTect SYBR Green Assays in human, mouse, rat PMS2P1
     Custom PCR Arrays for PMS2P1 Search Chromatin IP Primers for PMS2P1
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat PMS2P1  Search GeneGlobe Interaction Network for PMS2P1
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     Browse ESI BIO Cell Lines and PureStem Progenitors for PMS2P1
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     Search ThermoFisher Antibodies for PMS2P1
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PMS2P1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PMS2P1
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     Search LSBio for Antibodies for PMS2P1
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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