Free for academic non-profit institutions. Other users need a Commercial license

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. Gene Ontology (GO) annotations related to this gene include kinase activity.

Additional gene information for PMS2P1 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 PMS2P1 Gene

Genomics for PMS2P1 Gene

GeneHancer (GH) Regulatory Elements for PMS2P1 Gene

Promoters and enhancers for PMS2P1 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
GH07I100341 Enhancer 0.8 ENCODE dbSUPER 550.8 +0.6 556 0.6 PKNOX1 RFX1 SIN3A MNT ELF1 FOXA1 ZNF217 GATA3 SCRT2 FOS PMS2P1 PILRA PILRB ZCWPW1 LAMTOR4 MEPCE ENSG00000241357 GPC2 GAL3ST4 C7orf43
GH07I100342 Enhancer 0.5 ENCODE dbSUPER 550.8 -0.8 -758 1.2 PRDM1 PMS2P1 PILRA ZCWPW1 LAMTOR4 MEPCE ENSG00000241357 GPC2 GAL3ST4 C7orf43 PVRIG
GH07I100215 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 4.8 +122.3 122287 9.2 HDGF PKNOX1 SMAD1 IRF4 YY1 GLIS2 ZNF207 ZNF143 ATF7 FOS PVRIG PIR47005 PILRB STAG3L5P MBLAC1 AP4M1 GPC2 CNPY4 PILRA ZCWPW1
GH07I100343 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 0.8 -3.1 -3124 3 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 E2F8 ZNF207 ZNF143 FOS PILRA C7orf43 MBLAC1 ZCWPW1 MEPCE FAM200A LAMTOR4 ENSG00000241357 GPC2 GAL3ST4
GH07I100335 Promoter/Enhancer 1.6 Ensembl ENCODE 0.4 +5.8 5807 2.2 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B STAG3L5P STAG3L5P-PVRIG2P-PILRB PILRA ZSCAN25 ZNF3 ZNF655 TRIM4 GIGYF1 PCOLCE LOC100131859
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PMS2P1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PMS2P1 Gene

Genomic Locations for PMS2P1 Gene
chr7:100,320,640-100,341,908
(GRCh38/hg38)
Size:
21,269 bases
Orientation:
Minus strand
chr7:99,918,263-99,939,531
(GRCh37/hg19)

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 :
  • 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 PMS2P1: view

No data available for Gene Families for PMS2P1 Gene

Function for PMS2P1 Gene

Phenotypes From GWAS Catalog 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

Clone 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 , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) 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

(1) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(97) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PMS2P1 Gene

Postmeiotic segregation increased 2 pseudogene 1:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 Variation AA Info Type
rs1000219539 -- 100,331,366(-) G/A intron_variant
rs1000380109 -- 100,336,841(-) C/A/T upstream_transcript_variant
rs1001223433 -- 100,329,857(-) T/C intron_variant
rs1001386657 -- 100,335,893(-) G/A non_coding_transcript_variant
rs1001691288 -- 100,324,334(-) A/C 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

Additional Variant Information 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

Additional Disease Information for 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 NC … Kinzler KW (Genomics 1995) 2 3 4 58
  2. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. (PMID: 15077197) De Vos M … Bonthron DT (American journal of human genetics 2004) 2 3 58
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
  4. The human PMS2L proteins do not interact with hMLH1, a major DNA mismatch repair protein. (PMID: 10101297) Kondo E … Fukushige S (Journal of biochemistry 1999) 3 4 58
  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 (Biochemical and biophysical research communications 1994) 3 4 58

Products for PMS2P1 Gene

Sources for PMS2P1 Gene

Content
Loading form....