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Aliases for PMS2P3 Gene

Aliases for PMS2P3 Gene

  • PMS1 Homolog 2, Mismatch Repair System Component Pseudogene 3 2 3 5
  • Postmeiotic Segregation Increased 2-Like 3, Pseudogene 2 3
  • Postmeiotic Segregation Increased 2 Pseudogene 3 2 3
  • PMS2L3 3 4
  • PMS2L9 3 4
  • PMSR3 3 4
  • PMS5 3 4
  • Putative Postmeiotic Segregation Increased 2 Pseudogene 3 4
  • Postmeiotic Segregation Increased 2-Like Protein 9 4
  • Postmeiotic Segregation Increased Protein 5 4
  • Postmeiotic Segregation Increased 2-Like 3 2
  • Postmeiotic Segregation Increased 2-Like 9 3
  • PMS2-Related Protein 3 4

External Ids for PMS2P3 Gene

Previous HGNC Symbols for PMS2P3 Gene

  • PMS2L9
  • PMS2L3

Previous GeneCards Identifiers for PMS2P3 Gene

  • GC07M075138

Summaries for PMS2P3 Gene

GeneCards Summary for PMS2P3 Gene

PMS2P3 (PMS1 Homolog 2, Mismatch Repair System Component Pseudogene 3) is a Pseudogene. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.

Additional gene information for PMS2P3 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMS2P3 Gene

Genomics for PMS2P3 Gene

GeneHancer (GH) Regulatory Elements for PMS2P3 Gene

Promoters and enhancers for PMS2P3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I075526 Promoter/Enhancer 1.5 Ensembl ENCODE 550.8 +0.3 323 2.3 CLOCK ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF766 CBX5 PMS2P3 SPDYE12P GTF2IRD2 GC07M075514 ENSG00000200874
GH07I074635 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 66 +892.1 892112 2 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A ZNF48 ETS1 FOS ZNF202 REST PMS2P3 STAG3L1 NSUN5P1 MIR590 SPDYE5 METTL27 GTF2IRD2 GTF2IRD2B LOC101926943 BUD23
GH07I076313 Enhancer 1.5 Ensembl ENCODE dbSUPER 64.1 -786.2 -786191 1.4 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A ZNF2 IRF4 YY1 STAG3L1 PMS2P3 FAM185BP NSUN5P1 SPDYE18 SPDYE5 POMZP3 PMS2P9 SPDYE17 LOC100422695
GH07I076290 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 39.1 -766.4 -766407 8.9 HNRNPUL1 PKNOX1 CLOCK FOXA2 ARNT ARID4B NEUROD1 SIN3A DMAP1 IRF4 STAG3L1 PMS2P3 FAM185BP POMZP3 PMS2P9 NSUN5P1 DTX2P1 SRRM3 DTX2 SPDYE18
GH07I075877 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 26.5 -350.9 -350918 3.1 HDGF ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B RHBDD2 STAG3L1 PMS2P3 NSUN5P1 MDH2 SPDYE5 ENSG00000214243 CCL24 STYXL1 POR
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PMS2P3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PMS2P3 Gene

Genomic Locations for PMS2P3 Gene
chr7:75,502,930-75,528,148
(GRCh38/hg38)
Size:
25,219 bases
Orientation:
Minus strand
chr7:75,132,254-75,157,478
(GRCh37/hg19)

Genomic View for PMS2P3 Gene

Genes around PMS2P3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMS2P3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMS2P3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMS2P3 Gene

Proteins for PMS2P3 Gene

  • Protein details for PMS2P3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13401-PM2P3_HUMAN
    Recommended name:
    Putative postmeiotic segregation increased 2-like protein 3
    Protein Accession:
    Q13401
    Secondary Accessions:
    • A6NG70
    • Q3MJ29

    Protein attributes for PMS2P3 Gene

    Size:
    168 amino acids
    Molecular mass:
    18716 Da
    Quaternary structure:
    No Data Available
    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.
    SequenceCaution:
    • Sequence=AAA97459.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for PMS2P3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PMS2P3 Gene

Post-translational modifications for PMS2P3 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PMS2P3 Gene

Domains & Families for PMS2P3 Gene

Protein Domains for PMS2P3 Gene

Suggested Antigen Peptide Sequences for PMS2P3 Gene

Graphical View of Domain Structure for InterPro Entry

Q13401

UniProtKB/Swiss-Prot:

PM2P3_HUMAN :
  • Belongs to the DNA mismatch repair MutL/HexB family.
Family:
  • Belongs to the DNA mismatch repair MutL/HexB family.
genes like me logo Genes that share domains with PMS2P3: view

No data available for Gene Families for PMS2P3 Gene

Function for PMS2P3 Gene

Phenotypes From GWAS Catalog for PMS2P3 Gene

Gene Ontology (GO) - Molecular Function for PMS2P3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003697 single-stranded DNA binding IBA --
GO:0016887 ATPase activity IBA --
genes like me logo Genes that share ontologies with PMS2P3: view
genes like me logo Genes that share phenotypes with PMS2P3: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PMS2P3 Gene

Localization for PMS2P3 Gene

Gene Ontology (GO) - Cellular Components for PMS2P3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0032389 MutLalpha complex IBA --
genes like me logo Genes that share ontologies with PMS2P3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for PMS2P3 Gene

Pathways & Interactions for PMS2P3 Gene

SuperPathways for PMS2P3 Gene

No Data Available

Interacting Proteins for PMS2P3 Gene

Selected Interacting proteins: Q13401-PM2P3_HUMAN for PMS2P3 Gene via IID

Symbol External ID(s) Details
ASGR2

Gene Ontology (GO) - Biological Process for PMS2P3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006298 mismatch repair IBA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008150 biological_process ND --
GO:0016446 somatic hypermutation of immunoglobulin genes IBA --
genes like me logo Genes that share ontologies with PMS2P3: view

No data available for Pathways by source and SIGNOR curated interactions for PMS2P3 Gene

Drugs & Compounds for PMS2P3 Gene

No Compound Related Data Available

Transcripts for PMS2P3 Gene

Unigene Clusters for PMS2P3 Gene

Postmeiotic segregation increased 2 pseudogene 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PMS2P3 Gene

No ASD Table

Relevant External Links for PMS2P3 Gene

GeneLoc Exon Structure for
PMS2P3
ECgene alternative splicing isoforms for
PMS2P3

Expression for PMS2P3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PMS2P3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PMS2P3 Gene:

PMS2P3

SOURCE GeneReport for Unigene cluster for PMS2P3 Gene:

Hs.659871
genes like me logo Genes that share expression patterns with PMS2P3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PMS2P3 Gene

Orthologs for PMS2P3 Gene

Evolution for PMS2P3 Gene

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

No data available for Orthologs for PMS2P3 Gene

Paralogs for PMS2P3 Gene

No data available for Paralogs for PMS2P3 Gene

Variants for PMS2P3 Gene

Sequence variations from dbSNP and Humsavar for PMS2P3 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1001843466 -- 75,528,822(-) C/A upstream_transcript_variant
rs1008981006 -- 75,528,889(-) A/C upstream_transcript_variant
rs1009468391 -- 75,529,190(-) G/A upstream_transcript_variant
rs1020484996 -- 75,529,802(-) T/A upstream_transcript_variant
rs1020785842 -- 75,528,884(-) T/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PMS2P3 Gene

Variant ID Type Subtype PubMed ID
dgv120n16 CNV deletion 17901297
esv21917 CNV gain 19812545
esv3613722 CNV loss 21293372
nsv1161564 CNV duplication 26073780
nsv471445 CNV gain 19718026
nsv528969 CNV gain 19592680
nsv607509 CNV gain 21841781
nsv8157 CNV gain+loss 18304495
nsv831036 CNV loss 17160897
nsv971041 CNV duplication 23825009
nsv981535 CNV duplication 23825009

Additional Variant Information for PMS2P3 Gene

Human Gene Mutation Database (HGMD)
PMS2P3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMS2P3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for PMS2P3 Gene

Disorders for PMS2P3 Gene

Additional Disease Information for PMS2P3

No disorders were found for PMS2P3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PMS2P3 Gene

Publications for PMS2P3 Gene

  1. Genomic organization of the human PMS2 gene family. (PMID: 8586419) Nicolaides NC … Kinzler KW (Genomics 1995) 2 3 4 58
  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. (PMID: 20819778) Zhang X … Wu X (Carcinogenesis 2010) 3 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for PMS2P3 Gene

Sources for PMS2P3 Gene

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