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Gene : PMS1 Homo sapiens

Name  ? PMS1 homolog 1, mismatch repair system component Cytological Location  2q32.2
Brief Description  PMS1 homolog 1, mismatch repair system component
description  This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
  • synonyms:
  • PMS1 postmeiotic segregation increased 1 (S. cerevisiae),
  • HGNC:9121,
  • postmeiotic segregation increased (S. cerevisiae) 1,
  • uc010fry.2,
  • PMS1,
  • PMSL1,
  • NM_000534,
  • HNPCC3,
  • hPMS1,
  • OTTHUMG00000132664,
  • PMSL1,
  • MLH2,
  • MLH2
  • identifiers:
  • 5378,
  • ENSG00000064933,
  • PMS1

Genome feature

Region: gene ? Length: 93545  
Location: 2:189784085-189877629 Cyto location: 2q32.2

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0 Pathways

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]


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Gene --> Orthologues


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

2011 SN Ps

5 Cross References

18 Data Sets

12 Homologues

0 Located Features

90 Rna Seq Results