Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1029
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclin dependent kinase inhibitor 2A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDKN2A
Synonyms (NCBI Gene) Gene synonyms aliases
ARF, CAI2, CDK4I, CDKN2, CMM2, INK4, INK4A, MLM, MTS-1, MTS1, P14, P14ARF, P16, P16-INK4A, P16INK4, P16INK4A, P19, P19ARF, TP16
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p21.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibito
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1800586 C>A,G,T Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic, uncertain-significance 5 prime UTR variant, upstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs4987127 C>T Conflicting-interpretations-of-pathogenicity, likely-benign, benign Missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant
rs6413463 A>G,T Conflicting-interpretations-of-pathogenicity, likely-benign, benign Missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant
rs6413464 C>A,G Likely-pathogenic, benign-likely-benign, uncertain-significance, benign Missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs11552822 C>A,T Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004362 hsa-miR-24-3p qRT-PCR, Western blot 18365017
MIRT004362 hsa-miR-24-3p qRT-PCR, Western blot 18365017
MIRT004489 hsa-let-7g-5p qRT-PCR, Luciferase reporter assay, Western blot 20309945
MIRT004709 hsa-miR-125b-5p Western blot 20347935
MIRT006071 hsa-miR-492 Microarray, qRT-PCR 21319197
Transcription factors
Transcription factor Regulation Reference
DDB1 Unknown 19208841
DNMT1 Repression 17934516
DNMT1 Unknown 17490527
DNMT3A Unknown 17490527
E2F1 Activation 11705881;12695664;12766778;15716352;22621932
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10353611
GO:0000209 Process Protein polyubiquitination IDA 18305112
GO:0000422 Process Autophagy of mitochondrion IMP 25217637
GO:0001953 Process Negative regulation of cell-matrix adhesion IMP 10205165
GO:0002039 Function P53 binding IPI 9529249
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600160 1787 ENSG00000147889
Protein
UniProt ID P42771
Protein name Cyclin-dependent kinase inhibitor 2A (Cyclin-dependent kinase 4 inhibitor A) (CDK4I) (Multiple tumor suppressor 1) (MTS-1) (p16-INK4a) (p16-INK4) (p16INK4A)
Protein function Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein. {ECO:0000269|PubMed:16782892, E
PDB 1A5E , 1BI7 , 1DC2 , 2A5E , 7OZT
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed but not detected in brain or skeletal muscle. Isoform 3 is pancreas-specific. {ECO:0000269|PubMed:10445844}.
Sequence
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVA
ELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEE
LGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
Sequence length 156
UniProt ID Q8N726
Protein name Tumor suppressor ARF (Alternative reading frame) (ARF) (Cyclin-dependent kinase inhibitor 2A) (p14ARF)
Protein function Capable of inducing cell cycle arrest in G1 and G2 phases. Acts as a tumor suppressor. Binds to MDM2 and blocks its nucleocytoplasmic shuttling by sequestering it in the nucleolus. This inhibits the oncogenic action of MDM2 by blocking MDM2-indu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07392 P19Arf_N 4 54 Cyclin-dependent kinase inhibitor 2a p19Arf N-terminus Family
Sequence
MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPL
PRRPGHDDGQRPSGGAAAAPRRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGR
ARCLGPSARGPG
Sequence length 132
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Endocrine resistance
Platinum drug resistance
Cell cycle
p53 signaling pathway
Cellular senescence
Cushing syndrome
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Pathways in cancer
Viral carcinogenesis
MicroRNAs in cancer
Pancreatic cancer
Glioma
Melanoma
Bladder cancer
Chronic myeloid leukemia
Non-small cell lung cancer
Hepatocellular carcinoma
  Apoptotic factor-mediated response
Oxidative Stress Induced Senescence
Senescence-Associated Secretory Phenotype (SASP)
Oncogene Induced Senescence
SUMOylation of DNA damage response and repair proteins
SUMOylation of transcription factors
Regulation of TP53 Degradation
Cyclin D associated events in G1
Stabilization of p53
Transcriptional Regulation by VENTX
Regulation of RUNX3 expression and activity
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function
Evasion of Oncogene Induced Senescence Due to p14ARF Defects
Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Melanoma familial melanoma, Melanoma, cutaneous malignant, susceptibility to, 2, melanoma rs104894097, rs121913387, rs137854599, rs1060501265, rs1554654052, rs864622263, rs878853647, rs1060501266, rs768966657, rs559848002, rs1554656411, rs876660436, rs1563889584, rs121913381, rs104894094
View all (53 more)
N/A
Melanoma And Neural System Tumor Syndrome melanoma and neural system tumor syndrome rs587782792, rs104894095, rs878853647, rs768966657, rs1554656411, rs876660436, rs1060501266, rs876658220, rs104894094, rs1563888944, rs1131691186, rs730881674, rs45476696, rs587778189, rs730881673
View all (3 more)
N/A
Melanoma-Pancreatic Cancer Syndrome melanoma-pancreatic cancer syndrome rs1800586, rs104894094, rs104894097, rs730881677, rs137854599, rs2131114005, rs1064794292, rs730881675, rs104894098, rs876658534, rs730881674, rs104894099, rs45476696, rs1060501262, rs587778189
View all (4 more)
N/A
neoplasm Neoplasm rs1587330312, rs1820531050, rs864622636, rs587782206, rs141798398, rs121913387, rs121913388 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy), Type 2 diabetes mellitus or coronary artery disease (pleiotropy) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 14982841
Abdominal Injuries Associate 23154831
Aberrant Crypt Foci Associate 12000733
Abnormalities Drug Induced Associate 19131428, 24399002, 27568665
Abortion Habitual Associate 39941094
Acrospiroma Associate 27159948
Acute Disease Associate 7742529
Adenocarcinoma Associate 10601379, 12149142, 15098254, 15612080, 15785933, 16163549, 16598757, 16731604, 17072968, 17326708, 18410530, 18663352, 18831746, 19043591, 19366452
View all (31 more)
Adenocarcinoma Inhibit 18296270, 21857254, 22908062, 26192918, 30375264
Adenocarcinoma Stimulate 24258618, 26910219, 30946937