Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:CRC4
gptkb:MLH4 gptkb:PMSL2 gptkb:hPMS2 postmeiotic segregation increased 2 homolog |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Lynch_syndrome
gptkb:hereditary_nonpolyposis_colorectal_cancer |
| gptkbp:discoveredBy |
Fukui et al.
|
| gptkbp:discoveredIn |
1994
|
| gptkbp:encodes |
gptkb:PMS2_protein
|
| 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
|
| gptkbp:interactsWith |
gptkb:MLH1
|
| gptkbp:locatedOnChromosome |
7
7p22.1 |
| gptkbp:mutationAssociatedWith |
increased cancer risk
|
| gptkbp:numberOfExons |
15
|
| gptkbp:OMIM |
600259
|
| gptkbp:orthologInMouse |
gptkb:Pms2
|
| gptkbp:proteinFamily |
gptkb:MutL/MLH_family
|
| gptkbp:UniProtID |
P54278
|
| gptkbp:bfsParent |
gptkb:Lynch_syndrome
|
| gptkbp:bfsLayer |
5
|