|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:ARF
gptkb:CMM
gptkb:CDK4I
gptkb:INK4A
gptkb:MTS1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:CDKN1A
gptkb:glioblastoma
gptkb:CDKN2B
gptkb:CDKN2C
gptkb:familial_atypical_multiple_mole_melanoma_syndrome
melanoma
pancreatic cancer
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for melanoma risk
|
|
gptkbp:discoveredBy
|
gptkb:David_Beach
|
|
gptkbp:encodes
|
gptkb:p14ARF
gptkb:p16INK4a
|
|
gptkbp:Entrez_Gene_ID
|
1029
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:firstDescribed
|
1994
|
|
gptkbp:function
|
tumor suppressor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:1787
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CDKN2A
|
|
gptkbp:inhibitedBy
|
gptkb:CDK4
gptkb:CDK6
|
|
gptkbp:length
|
8.5 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_9
9p21.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:COSMIC
gptkb:ClinVar
gptkb:LOVD
germline
increased cancer risk
somatic
|
|
gptkbp:numberOfExons
|
4
|
|
gptkbp:OMIM
|
600160
|
|
gptkbp:orthologInMouse
|
gptkb:Cdkn2a
|
|
gptkbp:pathway
|
apoptosis
cell cycle regulation
senescence
|
|
gptkbp:product
|
gptkb:p14ARF
gptkb:p16INK4a
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
cell cycle
p53 pathway
RB1 pathway
|
|
gptkbp:UniProtID
|
gptkb:P42771
|
|
gptkbp:bfsParent
|
gptkb:Squamous_Cell_Carcinoma_of_the_Lung
|
|
gptkbp:bfsLayer
|
5
|