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PMS2P3 Gene

pseudogene   GIFtS: 36
GCID: GC07M075138

Postmeiotic Segregation Increased 2 Pseudogene 3

(Previous names: postmeiotic segregation increased 2-like 3, postmeiotic...)
(Previous symbols: PMS2L9, PMS2L3)
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(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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Postmeiotic Segregation Increased 2 Pseudogene 31 2     Postmeiotic Segregation Increased 2-Like 3, Pseudogene1
PMS2L31 2 3     PMS2-Related Protein 33
PMS2L91 2 3     Postmeiotic Segregation Increased 2-Like Protein 93
PMS52 3     Postmeiotic Segregation Increased Protein 53
PMSR32 3     Putative Postmeiotic Segregation Increased 2 Pseudogene 33
Postmeiotic Segregation Increased 2-Like 31     

External Ids:    HGNC: 91281   Entrez Gene: 53872   Ensembl: ENSG000001279577   UniProtKB: Q134013   
ORGUL members:         

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(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 PMS2P3 Gene:
PMS2P3 (postmeiotic segregation increased 2 pseudogene 3) is a pseudogene, and is affiliated with the antisense RNA class. GO annotations related to this gene include mismatched DNA binding.


(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  NC_018918.2  NT_007933.16  
Regulatory elements:
   Search for regulatory transcription factor binding sites for PMS2P3
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPMS2P3 promoter sequence
   Search Chromatin IP Primers for PMS2P3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PMS2P3


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

PMS2P3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PMS2P3 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M075138:  view genomic region     (about GC identifiers)

Start:
75,132,254 bp from pter      End:
75,157,478 bp from pter
Size:
25,225 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 74,470,133-74,490,517     

(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: PM2P3_HUMAN, Q13401 (See protein sequence)
Recommended Name: Putative postmeiotic segregation increased 2-like protein 3  
Size: 168 amino acids; 18716 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=AAA97459.1; Type=Erroneous gene model prediction;
Secondary accessions: A6NG70 Q3MJ29
Alternative splicing: 3 isoforms:  Q13401-1   Q13401-2   Q13401-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PMS2P3: NX_Q13401

Explore proteomics data for PMS2P3 at MOPED


See PMS2P3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


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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:
 IPR001909 Krueppel-associated_box
 IPR002099 DNA_mismatch_repair_fam
 IPR003594 HATPase_ATP-bd
 IPR028831 PMS2/PMS2L

Graphical View of Domain Structure for InterPro Entry Q13401

ProtoNet protein and cluster: Q13401

1 Blocks protein domain: IPB001909 KRAB box

UniProtKB/Swiss-Prot: PM2P3_HUMAN, Q13401
Similarity: Belongs to the DNA mismatch repair MutL/HexB family
Similarity: Contains 1 KRAB domain


Find genes that share domains with PMS2P3           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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     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
GO:0005524ATP binding IEA--
GO:0030983mismatched DNA binding IEA--
     
Find genes that share ontologies with PMS2P3           About GenesLikeMe


Animal Models:
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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:0005575cellular_component ND--
GO:0032389MutLalpha complex IEA--

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(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 PMS2P3
Interactions:

    Search GeneGlobe Interaction Network for PMS2P3

Gene Ontology (GO): 3 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006298mismatch repair IEA--
GO:0006355regulation of transcription, DNA-templated IEA--
GO:0008150biological_process ND--

Find genes that share ontologies with PMS2P3           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 PMS2P3 (PM2P3)



(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 PMS2P3 gene (2 alternative transcripts): 
NM_001003686.1  NM_005395.2  

Unigene Cluster for PMS2P3:

Postmeiotic segregation increased 2 pseudogene 3
Hs.659871  [show with all ESTs]
Unigene Representative Sequence: NR_028059
11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000529061 ENST00000394921 ENST00000430602 ENST00000418756(uc022agi.1 uc003udq.3 uc022agj.1)
ENST00000533167 ENST00000437568 ENST00000422064 ENST00000438326 ENST00000434405
ENST00000275580 ENST00000301956
miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat PMS2P3

Additional mRNA sequence: 

BC007683.1 BC014421.1 BC046153.2 BC087844.1 BC101598.1 BC143635.1 D38437.1 D38498.1 
NR_028059.1 

18 DOTS entries:

DT.101954944  DT.101954945  DT.92469739  DT.100044486  DT.101986110  DT.121116880  DT.100810684  DT.75102101 
DT.121041938  DT.121042064  DT.121057686  DT.216323  DT.426037  DT.91812169  DT.92469719  DT.95144641 
DT.95329841  DT.97778610 

Selected AceView cDNA sequences (see all 80):

NM_001003686 AI225016 AA078595 BX283126 CR621744 NM_005395 NM_001003687 CR620519 
BU069031 BC007683 AW302060 BC014421 AA078762 BC022886 BE408300 AL561205 
AI873698 D38437 BV208103 CA778384 BC029646 BV208102 CA778083 D38498 

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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PMS2P3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TCAACATAGT
PMS2P3 Expression
About this image

PMS2P3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

PMS2P3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.659871
    Custom PCR Arrays for PMS2P3
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PMS2P3

(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 PMS2P3 (if available)
TreeFam Gene Tree for PMS2P3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for PMS2P3 gene
Selected SIMAP similar genes for PMS2P3 using alignment to 1 protein entry:     PM2P3_HUMAN(see all similar genes):
POM121C    PMS7    PMS2L5    PMS2L15    DKFZp686J1569    PMS5
PMS8    PMS2L4    ZNF12    PMS2P2    ZNF283    RBAK-RBAKDN
ZFP1    ZNF101    ZNF420    PMS1    ZNF761    ZNF331

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(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 PMS2P3 (see all 443)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1394982021,2
--70225907(-) GATTGC/TGCCAC 1 -- ds50010--------
rs1840032121,2
--70226174(-) CTCTTC/GCCATA 1 -- ds50010--------
rs1919259871,2
--70226276(-) GGAATA/GTTAAG 1 -- nc-transcript-variant0--------
rs1996408791,2
F--70226405(-) GGACTC/TGACTG 1 -- nc-transcript-variant1Minor allele frequency- T:0.00EU 459
rs2016712461,2
C--70226638(-) GTCTCA/GCTGTC 1 -- int10--------
rs1874263621,2
--70226807(-) TTTTTC/TAGTTC 1 -- int10--------
rs1845904111,2
--70226876(-) CACCGC/TACCCT 1 -- int10--------
rs7943471,2
C,F--70227167(-) tttttG/Ttttgt 1 -- int11Minor allele frequency- T:0.50CSA 2
rs3724977181,2
C--70227216(+) TATGT-/TAATATA 1 -- int10--------
rs1909943391,2
C--70227392(+) ACCTAC/TATGTT 1 -- int10--------

HapMap Linkage Disequilibrium report for PMS2P3 (75132254 - 75157478 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for PMS2P3:    About this table    
Variant IDTypeSubtypePubMed ID
dgv120n16CNV Deletion17901297
nsv471445CNV Duplication19718026
nsv831036CNV Loss17160897
nsv528969CNV Gain19592680
nsv888381CNV Gain21882294
esv21917CNV Gain19812545
nsv8157CNV Gain+Loss18304495
essv14753CNV CNV17122850
dgv2102e1CNV Complex17122850

Human Gene Mutation Database (HGMD): PMS2P3
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing PMS2P3
DNA2.0 Custom Variant and Variant Library Synthesis for PMS2P3

(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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Find genes that share disorders with PMS2P3           About GenesLikeMe


Export disorders for PMS2P3 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 PMS2P3 gene integrated from 10 sources:
(articles sorted by number of sources associating them with PMS2P3)
    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. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1 Zhang X....Wu X. (Carcinogenesis 2010)
  3. 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)
  4. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)
  5. 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)
  6. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1 Dias Neto E....Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000)
  7. Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. (PubMed id 7980603)1 Horii A.... Nakamura Y. (Biochem. Biophys. Res. Commun. 1994)

(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: 5387 HGNC: 9128 AceView: PMS2L3 Ensembl:ENSG00000127957 euGenes: HUgn5387
ECgene: PMS2P3 H-InvDB: PMS2P3

(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 PMS2P3 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 PMS2P3 gene:
Search GeneIP for patents involving PMS2P3

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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 Browse ESI BIO Cell Lines and PureStem Progenitors for PMS2P3
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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PMS2P3
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 Search Addgene for plasmids for PMS2P3
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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 , 21 Aug 2014 , 8 Sep 2014

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