Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:hPMS2
PMS2L |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Lynch_syndrome
gptkb:hereditary_nonpolyposis_colorectal_cancer constitutional mismatch repair deficiency syndrome |
| gptkbp:discoveredBy |
genetic studies of mismatch repair
|
| gptkbp:encodes |
gptkb:PMS2_protein
|
| gptkbp:Entrez_Gene_ID |
ENSG00000122512
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:fullName |
postmeiotic segregation increased 2
|
| gptkbp:function |
DNA mismatch repair
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
9122
|
| https://www.w3.org/2000/01/rdf-schema#label |
Pms2
|
| gptkbp:interactsWith |
gptkb:MLH1
gptkb:MSH2 gptkb:EXO1 |
| gptkbp:length |
15 exons
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_7
7p22.1 |
| gptkbp:mutationAssociatedWith |
germline
increased cancer risk somatic |
| gptkbp:OMIM |
600259
|
| gptkbp:orthologInMouse |
gptkb:Pms2
|
| gptkbp:proteinFamily |
MutL homolog
|
| gptkbp:RefSeq |
NM_000535
|
| gptkbp:UniProtID |
P54278
|
| gptkbp:bfsParent |
gptkb:PMS2
|
| gptkbp:bfsLayer |
6
|