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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. 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

Regulatory Elements for PMS2P3 Gene

Enhancers for PMS2P3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H074635 1.8 FANTOM5 Ensembl ENCODE dbSUPER 66 +892.1 892113 1 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FOS ZNF202 REST PPARG ZNF623 PMS2P3 STAG3L1 NSUN5P1 MIR590 SPDYE5 METTL27 GTF2IRD2 GTF2IRD2B LOC101926943 BUD23
GH07H076280 1 dbSUPER 86.2 -753.9 -753938 2 HDGF ARNT SIN3A YBX1 GLI4 ZNF2 GLIS2 ZNF302 KLF7 ZNF548 STAG3L1 PMS2P3 FAM185BP NSUN5P1 SPDYE18 LOC100422695 SRRM3 DTX2P1 PMS2P9 LOC100133091
GH07H076356 1.4 ENCODE dbSUPER 37.1 -830.5 -830464 4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 PMS2P3 POMZP3 STAG3L1 SPDYE18 PMS2P9 DTX2P1 FAM185BP LOC100133091 NSUN5P1 SPDYE5
GH07H076301 1.6 Ensembl ENCODE dbSUPER 31.5 -778.6 -778602 10 HDGF FOXA2 PKNOX1 ARID4B SIN3A FEZF1 ZBTB7B YY1 SLC30A9 ZNF143 STAG3L1 PMS2P3 POMZP3 SPDYE5 SPDYE18 PMS2P9 DTX2P1 SPDYE17 NSUN5P1 SRRM3
GH07H076313 1.6 Ensembl ENCODE dbSUPER 29.8 -786.2 -786191 1 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A ZNF2 YY1 SLC30A9 STAG3L1 SPDYE18 PMS2P3 FAM185BP POMZP3 SPDYE5 NSUN5P1 SPDYE17 PMS2P9 LOC100422695
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PMS2P3 on UCSC Golden Path with GeneCards custom track

Promoters for PMS2P3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000213765 348 2001 ATF1 ARNT ARID4B SIN3A DMAP1 YY1 ETS1 SLC30A9 ZNF766 GLIS2

Genomic Location for PMS2P3 Gene

Chromosome:
7
Start:
75,502,930 bp from pter
End:
75,528,148 bp from pter
Size:
25,219 bases
Orientation:
Minus strand

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

InterPro:
Blocks:
ProtoNet:

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PMS2P3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PMS2P3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 Sequence Context AA Info Type
rs1001843466 -- 75,528,822(+) AGCCT(A/C)CCATG upstream-variant-2KB
rs1008699576 -- 75,529,266(+) CTGGG(G/T)TTACA upstream-variant-2KB
rs1008981006 -- 75,528,889(+) TGTAG(A/C)GATGG upstream-variant-2KB
rs1009468391 -- 75,529,190(+) GGCGC(A/G)ATCTC upstream-variant-2KB
rs1011636963 -- 75,526,417(+) TGCAC(G/T)TGTAA intron-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

Relevant External Links 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

Relevant External Links for PMS2P3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  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 60
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 4 60
  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 60

Products for PMS2P3 Gene

Sources for PMS2P3 Gene

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