|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CDK4I
gptkb:INK4A
gptkb:MTS1
MELANOMA, FAMILIAL, 2
|
|
gptkbp:alternativeSplicing
|
produces p14ARF
|
|
gptkbp:associatedWith
|
gptkb:familial_melanoma
gptkb:bladder_cancer
gptkb:glioblastoma
gptkb:melanoma
pancreatic cancer
|
|
gptkbp:discoveredBy
|
gptkb:David_Beach
|
|
gptkbp:encodes
|
p16INK4a protein
|
|
gptkbp:Entrez_Gene_ID
|
1029
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:function
|
gptkb:cyclin-dependent_kinase_inhibitor
prevents G1/S cell cycle progression
|
|
gptkbp:hasBiomarker
|
aging
cancer diagnosis
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:1787
|
|
gptkbp:inhibitedBy
|
gptkb:CDK4
gptkb:CDK6
|
|
gptkbp:length
|
156 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_9
gptkb:9p21
|
|
gptkbp:lossOfFunctionLeadsTo
|
uncontrolled cell proliferation
|
|
gptkbp:methylationLeadsTo
|
gene silencing
|
|
gptkbp:mutationAssociatedWith
|
germline mutation
somatic mutation
|
|
gptkbp:OMIM
|
600160
|
|
gptkbp:orthologInMouse
|
gptkb:Cdkn2a
|
|
gptkbp:regulates
|
cell cycle
RB1 pathway
|
|
gptkbp:tumorSuppressor
|
true
|
|
gptkbp:UniProtID
|
gptkb:P42771
|
|
gptkbp:bfsParent
|
gptkb:CDK4_gene
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CDKN2A (p16INK4a)
|