|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:ARF
gptkb:CMM
gptkb:CDK4I
gptkb:INK4A
gptkb:MTS1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:familial_melanoma
gptkb:glioblastoma
gptkb:head_and_neck_squamous_cell_carcinoma
melanoma
pancreatic cancer
bladder cancer
|
|
gptkbp:biologicalProcess
|
CDK inhibitor activity
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for melanoma risk
|
|
gptkbp:discoveredBy
|
gptkb:David_Beach
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:encodes
|
p16INK4a protein
p14ARF protein
|
|
gptkbp:Entrez_Gene_ID
|
1029
|
|
gptkbp:expressedIn
|
many tissues
|
|
gptkbp:function
|
tumor suppressor
|
|
gptkbp:hasTranscriptVariant
|
gptkb:p14ARF
gptkb:p16INK4a
p12
|
|
gptkbp:HGNC_ID
|
1787
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CDKN2A gene
|
|
gptkbp:inhibitedBy
|
gptkb:CDK4
gptkb:CDK6
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_9
9p21.3
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
insertion
missense
increased cancer risk
high in familial melanoma
|
|
gptkbp:OMIM
|
600160
|
|
gptkbp:orthologInMouse
|
gptkb:Cdkn2a
|
|
gptkbp:product
|
gptkb:cyclin-dependent_kinase_inhibitor_2A
alternative reading frame protein
|
|
gptkbp:proteinFamily
|
gptkb:INK4_family
tumor suppressor genes
|
|
gptkbp:regulates
|
cell cycle
G1 phase of cell cycle
p53 pathway
RB1 pathway
|
|
gptkbp:UniProtID
|
gptkb:P42771
Q8N726
|
|
gptkbp:bfsParent
|
gptkb:p14ARF
gptkb:p16INK4a
gptkb:familial_atypical_multiple_mole_melanoma_syndrome
|
|
gptkbp:bfsLayer
|
7
|