|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:COCA1
gptkb:hMSH2
gptkb:HNPCC
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Lynch_syndrome
gptkb:hereditary_nonpolyposis_colorectal_cancer
|
|
gptkbp:biologicalProcess
|
DNA repair
ATP binding
cell cycle checkpoint
genomic stability
mismatch DNA binding
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
gptkb:Richard_Kolodner
|
|
gptkbp:encodes
|
gptkb:DNA_mismatch_repair_protein_Msh2
|
|
gptkbp:Entrez_Gene_ID
|
4436
ENSG00000095002
|
|
gptkbp:expressedIn
|
many tissues
|
|
gptkbp:firstDescribed
|
1993
|
|
gptkbp:fullName
|
gptkb:mutS_homolog_2
|
|
gptkbp:function
|
DNA mismatch repair
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
7325
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MSH2
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:MLH1
gptkb:MSH6
gptkb:PMS2
gptkb:MSH3
|
|
gptkbp:length
|
934 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 2
2p21
|
|
gptkbp:mutationAssociatedWith
|
germline
increased cancer risk
somatic
|
|
gptkbp:OMIM
|
609309
|
|
gptkbp:orthologInMouse
|
gptkb:Msh2
|
|
gptkbp:orthologInYeast
|
gptkb:MSH2
|
|
gptkbp:pathway
|
DNA repair
Mismatch repair pathway
|
|
gptkbp:proteinFamily
|
gptkb:MutS_family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:UniProtID
|
P43246
|
|
gptkbp:bfsParent
|
gptkb:Lynch_syndrome
|
|
gptkbp:bfsLayer
|
5
|