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Aliases for PMS2P7 Gene

Aliases for PMS2P7 Gene

  • PMS1 Homolog 2, Mismatch Repair System Component Pseudogene 7 2 3 5
  • Postmeiotic Segregation Increased 2-Like Pseudogene 2 2 3
  • Postmeiotic Segregation Increased 2 Pseudogene 7 2 3
  • Postmeiotic Segregation Increased 2-Like 15 2 3
  • PMS2L15 3
  • PMS2LP2 3
  • PMSR7 3

External Ids for PMS2P7 Gene

Previous HGNC Symbols for PMS2P7 Gene

  • PMS2LP2
  • PMS2L15

Previous GeneCards Identifiers for PMS2P7 Gene

  • GC07P072478

Summaries for PMS2P7 Gene

GeneCards Summary for PMS2P7 Gene

PMS2P7 (PMS1 Homolog 2, Mismatch Repair System Component Pseudogene 7) is a Pseudogene.

Additional gene information for PMS2P7 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 PMS2P7 Gene

Genomics for PMS2P7 Gene

GeneHancer (GH) Regulatory Elements for PMS2P7 Gene

Promoters and enhancers for PMS2P7 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
GH07I073004 Promoter/Enhancer 1.3 Ensembl ENCODE 550.8 +0.4 360 2.2 HDAC1 ATF1 SIN3A ZNF335 POLR2B EGR2 SMARCA5 ZNF362 KLF16 NBN PMS2P7 STAG3L3
GH07I072827 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.4 -176.1 -176135 4.4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 TYW1B PIR36920 SBDSP1 STAG3L3 POM121B TBL2 POM121 FKBP6 NSUN5P2 BUD23
GH07I073433 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 18.7 +428.2 428240 1.2 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 POLR2B GLIS2 ZNF143 KLF7 FZD9 STAG3L3 NSUN5P2 POM121B PMS2P7 POM121 TBL2 BCL7B MIR590 METTL27
GH07I073736 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 +735.2 735184 7.8 CLOCK ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 ZNF610 GLIS1 ABHD11 GC07P073741 GC07P073742 METTL27 ABHD11-AS1 POM121B POM121 STAG3L3 NSUN5P2 TBL2
GH07I073715 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 +712.0 712013 4.9 CLOCK SMAD1 FOXA2 ARNT ZFP64 ARID4B NEUROD1 SIN3A FEZF1 ZNF766 STX1A POM121B POM121 TBL2 STAG3L3 NSUN5P2 MIR590 NSUN5 PMS2P7 RFC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PMS2P7 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PMS2P7 Gene

Genomic Locations for PMS2P7 Gene
chr7:73,005,541-73,021,103
(GRCh38/hg38)
Size:
15,563 bases
Orientation:
Plus strand
chr7:72,476,588-72,483,807
(GRCh37/hg19)

Genomic View for PMS2P7 Gene

Genes around PMS2P7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMS2P7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMS2P7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMS2P7 Gene

Proteins for PMS2P7 Gene

Post-translational modifications for PMS2P7 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PMS2P7 Gene

Domains & Families for PMS2P7 Gene

Suggested Antigen Peptide Sequences for PMS2P7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains and UniProtKB/Swiss-Prot for PMS2P7 Gene

Function for PMS2P7 Gene

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PMS2P7 Gene

Localization for PMS2P7 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for PMS2P7 Gene

Pathways & Interactions for PMS2P7 Gene

SuperPathways for PMS2P7 Gene

No Data Available

Interacting Proteins for PMS2P7 Gene

Gene Ontology (GO) - Biological Process for PMS2P7 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PMS2P7 Gene

Drugs & Compounds for PMS2P7 Gene

No Compound Related Data Available

Transcripts for PMS2P7 Gene

mRNA/cDNA for PMS2P7 Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PMS2P7 Gene

No ASD Table

Relevant External Links for PMS2P7 Gene

GeneLoc Exon Structure for
PMS2P7
ECgene alternative splicing isoforms for
PMS2P7

Expression for PMS2P7 Gene

NURSA nuclear receptor signaling pathways regulating expression of PMS2P7 Gene:

PMS2P7
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , 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 PMS2P7 Gene

Orthologs for PMS2P7 Gene

Evolution for PMS2P7 Gene

ENSEMBL:
Gene Tree for PMS2P7 (if available)
TreeFam:
Gene Tree for PMS2P7 (if available)

No data available for Orthologs for PMS2P7 Gene

Paralogs for PMS2P7 Gene

No data available for Paralogs for PMS2P7 Gene

Variants for PMS2P7 Gene

Sequence variations from dbSNP and Humsavar for PMS2P7 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs10272720 -- 73,012,370(+) A/T intron_variant
rs113663859 -- 73,013,184(+) C/G non_coding_transcript_variant
rs1179775 -- 73,014,948(+) G/A/C/T intron_variant
rs1183846 -- 73,010,452(+) A/C intron_variant
rs148041778 -- 73,012,301(+) T/C intron_variant

Additional Variant Information for PMS2P7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMS2P7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for PMS2P7 Gene

Disorders for PMS2P7 Gene

Additional Disease Information for PMS2P7

No disorders were found for PMS2P7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PMS2P7 Gene

Publications for PMS2P7 Gene

  1. 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) 2 3 58
  2. Toward a complete human genome sequence. (PMID: 9847074) Sanger Center … Genome Sequencing Center (Genome research 1998) 3 58
  3. PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. (PMID: 9344666) Osborne LR … Scherer SW (Genomics 1997) 3 58
  4. Genomic organization of the human PMS2 gene family. (PMID: 8586419) Nicolaides NC … Kinzler KW (Genomics 1995) 3 58

Products for PMS2P7 Gene

Sources for PMS2P7 Gene

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