|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CRC4
gptkb:MLH4
gptkb:PMSL2
gptkb:hPMS2
|
|
gptkbp:associatedWith
|
gptkb:Lynch_syndrome
gptkb:hereditary_nonpolyposis_colorectal_cancer
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for Lynch syndrome
|
|
gptkbp:discoveredBy
|
gptkb:Richard_Kolodner
|
|
gptkbp:encodes
|
gptkb:PMS2_protein
|
|
gptkbp:Entrez_Gene_ID
|
5378
ENSG00000122512
|
|
gptkbp:expressedIn
|
many tissues
|
|
gptkbp:fullName
|
postmeiotic segregation increased 2
|
|
gptkbp:function
|
DNA mismatch repair
|
|
gptkbp:HGNC_ID
|
9122
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PMS2 gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:MLH1_protein
|
|
gptkbp:locatedOnChromosome
|
7
7p22.1
|
|
gptkbp:mutationAssociatedWith
|
germline mutation
somatic mutation
increased cancer risk
|
|
gptkbp:OMIM
|
600259
|
|
gptkbp:orthologInMouse
|
gptkb:Pms2
|
|
gptkbp:pathway
|
Mismatch repair pathway
|
|
gptkbp:product
|
gptkb:PMS2_protein
|
|
gptkbp:proteinFamily
|
MutL/MutS family
|
|
gptkbp:RefSeq
|
NM_000535
|
|
gptkbp:UniProtID
|
P54278
|
|
gptkbp:bfsParent
|
gptkb:PMS2_protein
gptkb:Turcot_syndrome
|
|
gptkbp:bfsLayer
|
7
|