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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.

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

Regulatory Elements for PMS2P7 Gene

Enhancers for PMS2P7 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
GH07G073891 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +888.8 888804 6.3 PKNOX1 CREB3L1 ARNT MLX ZFP64 ARID4B SIN3A YBX1 DMAP1 YY1 BAZ1B METTL27 PMS2P7 GTF2IRD2 ABHD11 GC07M073860 GC07M073911
GH07G073885 1.6 Ensembl ENCODE dbSUPER 10.6 +881.2 881162 1.9 PKNOX1 CREB3L1 ARNT ZNF766 KLF13 REST MEF2D SMARCA4 NBN NR2C1 METTL27 BAZ1B PMS2P7 ABHD11 GC07M073860 GC07M073911
GH07G073622 1.4 FANTOM5 ENCODE 10.6 +618.3 618298 2.6 HDGF HNRNPUL1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 MLXIPL BCL7B METTL27 BAZ1B PMS2P7 ENSG00000274080
GH07G073612 1.1 ENCODE 10.6 +607.9 607942 2.6 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 PAF1 BCL7B STX1A VPS37D BUD23 DNAJC30 TBL2 RNU6-1198P METTL27 PMS2P7 MLXIPL
GH07G073307 1.1 ENCODE 10.6 +303.2 303193 1.8 MLX CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 CBX5 SP3 METTL27 BAZ1B PMS2P7 POM121B TYW1B NSUN5 PIR42430
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PMS2P7 on UCSC Golden Path with GeneCards custom track

Promoters for PMS2P7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000213406 359 2201 HDAC1 ATF1 SIN3A EGR2 ZNF362 POLR2H KLF16 NBN NR2C1 ZNF24

Genomic Location for PMS2P7 Gene

Chromosome:
7
Start:
73,005,541 bp from pter
End:
73,021,103 bp from pter
Size:
15,563 bases
Orientation:
Plus strand

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) , 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 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 :

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 Sequence Context AA Info Type
rs1183846 -- 73,010,452(+) ctgta(A/C)tctca intron-variant
rs2527273 -- 73,004,659(+) GAGAC(A/T)TGGTT intron-variant, upstream-variant-2KB
rs2530487 -- 73,006,102(+) TGGGA(A/G)CCGTT nc-transcript-variant, upstream-variant-2KB
rs2530488 -- 73,006,232(+) CTTCC(A/G)ACCTC intron-variant, upstream-variant-2KB
rs2539048 -- 73,006,960(-) GGCAA(A/G)TGTAT intron-variant, upstream-variant-2KB

Relevant External Links 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

Relevant External Links for PMS2P7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biochem. 1999) 2 3 64
  2. Toward a complete human genome sequence. (PMID: 9847074) Sulston J.E. … Waterston R. (Genome Res. 1998) 3 64
  3. PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7. (PMID: 9344666) Osborne L.R. … Scherer S.W. (Genomics 1997) 3 64
  4. Genomic organization of the human PMS2 gene family. (PMID: 8586419) Nicolaides N.C. … Kinzler K.W. (Genomics 1995) 3 64

Products for PMS2P7 Gene

Sources for PMS2P7 Gene

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