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Aliases for PMS2P1 Gene

Aliases for PMS2P1 Gene

  • PMS1 Homolog 2, Mismatch Repair System Component Pseudogene 1 2 3 5
  • Postmeiotic Segregation Increased 2-Like 1 Pseudogene 2 3
  • Postmeiotic Segregation Increased 2 Pseudogene 1 2 3
  • Postmeiotic Segregation Increased 2-Like 6 2 3
  • Postmeiotic Segregation Increased 2-Like 8 2 3
  • Postmeiotic Segregation Increased 2-Like 7 2 3
  • PMS2L13 3 4
  • PMS2L1 3 4
  • PMS2L6 3 4
  • PMS2L8 3 4
  • PMSR2 3 4
  • PMS3 3 4
  • PMS8 3 4
  • Putative Postmeiotic Segregation Increased 2 Pseudogene 1 4
  • Postmeiotic Segregation Increased 2-Like Protein 13 4
  • Postmeiotic Segregation Increased 2-Like Protein 6 4
  • Postmeiotic Segregation Increased 2-Like Protein 8 4
  • Postmeiotic Segregation Increased Protein 3 4
  • Postmeiotic Segregation Increased Protein 8 4
  • Postmeiotic Segregation Increased 2-Like 1 2
  • Postmeiotic Segregation Increased 2-Like 5 3
  • PMS2-Related Protein 2 4
  • PMS2L7 3
  • PMSR1 3
  • HPMS3 4

External Ids for PMS2P1 Gene

Previous HGNC Symbols for PMS2P1 Gene

  • PMS2L6
  • PMS2L8
  • PMS2L7
  • PMS2L1

Previous GeneCards Identifiers for PMS2P1 Gene

  • GC07M099278
  • GC07M099899
  • GC07M099918

Summaries for PMS2P1 Gene

GeneCards Summary for PMS2P1 Gene

PMS2P1 (PMS1 Homolog 2, Mismatch Repair System Component Pseudogene 1) is a Pseudogene. GO annotations related to this gene include kinase activity.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMS2P1 Gene

Genomics for PMS2P1 Gene

Regulatory Elements for PMS2P1 Gene

Enhancers for PMS2P1 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around PMS2P1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PMS2P1 Gene

Chromosome:
7
Start:
100,320,640 bp from pter
End:
100,341,908 bp from pter
Size:
21,269 bases
Orientation:
Minus strand

Genomic View for PMS2P1 Gene

Genes around PMS2P1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMS2P1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMS2P1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMS2P1 Gene

Proteins for PMS2P1 Gene

  • Protein details for PMS2P1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A4D2B8-PM2P1_HUMAN
    Recommended name:
    Putative postmeiotic segregation increased 2-like protein 1
    Protein Accession:
    A4D2B8
    Secondary Accessions:
    • Q0VGD2
    • Q13400
    • Q16530
    • Q6NVZ2
    • Q7KZ90

    Protein attributes for PMS2P1 Gene

    Size:
    440 amino acids
    Molecular mass:
    47508 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=AAA97458.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; 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.; Evidence={ECO:0000305};

    Alternative splice isoforms for PMS2P1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PMS2P1 Gene

Post-translational modifications for PMS2P1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PMS2P1 Gene

Domains & Families for PMS2P1 Gene

Protein Domains for PMS2P1 Gene

Suggested Antigen Peptide Sequences for PMS2P1 Gene

Graphical View of Domain Structure for InterPro Entry

A4D2B8

UniProtKB/Swiss-Prot:

PM2P1_HUMAN :
  • Contains 1 histidine kinase domain.
  • Belongs to the DNA mismatch repair MutL/HexB family.
Domain:
  • Contains 1 histidine kinase domain.
Family:
  • Belongs to the DNA mismatch repair MutL/HexB family.
genes like me logo Genes that share domains with PMS2P1: view

No data available for Gene Families for PMS2P1 Gene

Function for PMS2P1 Gene

Gene Ontology (GO) - Molecular Function for PMS2P1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003697 single-stranded DNA binding IBA --
GO:0016301 kinase activity IEA --
GO:0016887 ATPase activity IBA --
genes like me logo Genes that share ontologies with PMS2P1: view
genes like me logo Genes that share phenotypes with PMS2P1: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PMS2P1 Gene

Localization for PMS2P1 Gene

Gene Ontology (GO) - Cellular Components for PMS2P1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032389 MutLalpha complex IBA --
genes like me logo Genes that share ontologies with PMS2P1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for PMS2P1 Gene

Pathways & Interactions for PMS2P1 Gene

SuperPathways for PMS2P1 Gene

No Data Available

Interacting Proteins for PMS2P1 Gene

Selected Interacting proteins: A4D2B8-PM2P1_HUMAN for PMS2P1 Gene via IID

Gene Ontology (GO) - Biological Process for PMS2P1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006298 mismatch repair IBA --
GO:0016310 phosphorylation IEA --
GO:0016446 somatic hypermutation of immunoglobulin genes IBA --
genes like me logo Genes that share ontologies with PMS2P1: view

No data available for Pathways by source and SIGNOR curated interactions for PMS2P1 Gene

Drugs & Compounds for PMS2P1 Gene

No Compound Related Data Available

Transcripts for PMS2P1 Gene

mRNA/cDNA for PMS2P1 Gene

Unigene Clusters for PMS2P1 Gene

Postmeiotic segregation increased 2 pseudogene 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PMS2P1 Gene

No ASD Table

Relevant External Links for PMS2P1 Gene

GeneLoc Exon Structure for
PMS2P1
ECgene alternative splicing isoforms for
PMS2P1

Expression for PMS2P1 Gene

mRNA expression in normal human tissues for PMS2P1 Gene

Protein differential expression in normal tissues from HIPED for PMS2P1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PMS2P1 Gene



Protein tissue co-expression partners for PMS2P1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PMS2P1 Gene:

PMS2P1

SOURCE GeneReport for Unigene cluster for PMS2P1 Gene:

Hs.634244

mRNA Expression by UniProt/SwissProt for PMS2P1 Gene:

A4D2B8-PM2P1_HUMAN
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.
genes like me logo Genes that share expression patterns with PMS2P1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PMS2P1 Gene

Orthologs for PMS2P1 Gene

Evolution for PMS2P1 Gene

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

No data available for Orthologs for PMS2P1 Gene

Paralogs for PMS2P1 Gene

(15) SIMAP similar genes for PMS2P1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PMS2P1: view

No data available for Paralogs for PMS2P1 Gene

Variants for PMS2P1 Gene

Sequence variations from dbSNP and Humsavar for PMS2P1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs7788930 -- 100,333,421(+) ttttt(G/T)ttttt intron-variant
rs2405469 -- 100,327,955(-) TGTCT(A/G)TATTA intron-variant
rs2897139 -- 100,326,749(-) aagag(C/T)gaaac intron-variant
rs3070039 -- 100,323,438(-) ctttt(-/TTTTTTT)gtgat intron-variant
rs10259629 -- 100,323,937(+) tttga(C/G)acaga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PMS2P1 Gene

Variant ID Type Subtype PubMed ID
esv26986 CNV gain 19812545
esv2734888 CNV deletion 23290073
esv2734890 CNV deletion 23290073
esv3614293 CNV gain 21293372
esv3614295 CNV gain 21293372
esv3614296 CNV loss 21293372
nsv428180 CNV gain 18775914
nsv436898 CNV insertion 17901297
nsv8183 CNV gain+loss 18304495
nsv831071 CNV loss 17160897
nsv967347 CNV duplication 23825009
nsv970561 CNV duplication 23825009
nsv981559 CNV duplication 23825009

Relevant External Links for PMS2P1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMS2P1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for PMS2P1 Gene

Disorders for PMS2P1 Gene

Relevant External Links for PMS2P1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PMS2P1

No disorders were found for PMS2P1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PMS2P1 Gene

Publications for PMS2P1 Gene

  1. Genomic organization of the human PMS2 gene family. (PMID: 8586419) Nicolaides N.C. … Kinzler K.W. (Genomics 1995) 2 3 4 65
  2. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. (PMID: 15077197) De Vos M. … Bonthron D.T. (Am. J. Hum. Genet. 2004) 2 3 65
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 65
  4. The human PMS2L proteins do not interact with hMLH1, a major DNA mismatch repair protein. (PMID: 10101297) Kondo E. … Fukushige S. (J. Biochem. 1999) 3 4 65
  5. Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes. (PMID: 7980603) Horii A. … Nakamura Y. (Biochem. Biophys. Res. Commun. 1994) 3 4 65

Products for PMS2P1 Gene

Sources for PMS2P1 Gene

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