Homo sapiens Gene: PMS2
Summary
InnateDB Gene IDBG-7921.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PMS2
Gene Name PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Synonyms HNPCC4; PMS2CL; PMSL2;
Species Homo sapiens
Ensembl Gene ENSG00000122512
Encoded Proteins
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:5973239-6009125
Strand Reverse strand
Band p22.1
Transcripts
ENST00000265849 ENSP00000265849
ENST00000382321 ENSP00000371758
ENST00000380416
ENST00000406569
ENST00000441476 ENSP00000392843
ENST00000415839
ENST00000469652
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 54 experimentally validated interaction(s) in this database.
Experimentally validated
Total 54 [view]
Protein-Protein 51 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003697 single-stranded DNA binding
GO:0004519 endonuclease activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016887 ATPase activity
GO:0030983 mismatched DNA binding
GO:0032138 single base insertion or deletion binding
GO:0032407 MutSalpha complex binding
Biological Process
GO:0006200 ATP catabolic process
GO:0006281 DNA repair
GO:0006298 mismatch repair
GO:0006974 cellular response to DNA damage stimulus
GO:0016446 somatic hypermutation of immunoglobulin genes
GO:0016447 somatic recombination of immunoglobulin gene segments
GO:0042493 response to drug
GO:0090305 nucleic acid phosphodiester bond hydrolysis
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0015630 microtubule cytoskeleton
GO:0032300 mismatch repair complex
GO:0032389 MutLalpha complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) pathway
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) pathway
Mismatch Repair pathway
DNA Repair pathway
KEGG
Mismatch repair pathway
INOH
PID BIOCARTA
PID NCI
Direct p53 effectors
Cross-References
SwissProt P54278
TrEMBL
UniProt Splice Variant
Entrez Gene 5395
UniGene Hs.597070 Hs.632637
RefSeq NM_000535 XM_006715742 XM_006715744
HUGO HGNC:9122
OMIM 600259
CCDS CCDS5343
HPRD 02598
IMGT
EMBL AB103082 AB103083 AB103085 AC005995 AK312390 BC093921 U13696 U14658
GenPept AAA50390 AAA63923 AAH93921 AAS00390 BAD89425 BAD89426 BAD89428 BAG35307
RNA Seq Atlas 5395