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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CDKN2A
cyclin dependent kinase inhibitor 2A
Chromosome 9 Β· 9p21.3
NCBI Gene: 1029Ensembl: ENSG00000147889.18HGNC: HGNC:1787UniProt: K7PML8
2,698PubMed Papers
23Diseases
0Drugs
174Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription FactorTumor Suppressor
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of cyclin-dependent protein serine/threonine kinase activityRNA bindingcyclin-dependent protein serine/threonine kinase inhibitor activityprotein bindingmelanoma, cutaneous malignant, susceptibility to, 2cutaneous melanomamelanomafamilial atypical multiple mole melanoma syndrome
✦AI Summary

CDKN2A encodes two tumor suppressor proteins, p16INK4A and p14ARF, that negatively regulate cell proliferation by inhibiting CDK4/6 kinases and preventing their interaction with cyclins D and phosphorylation of retinoblastoma protein 1. Beyond cell cycle control, CDKN2A participates in cellular senescence regulation, with p16INK4A expression serving as a senescence marker associated with replicative senescence and age-related pathologies 2. Germline CDKN2A mutations are responsible for the majority of hereditary melanoma cases, with characteristic loss conferring increased melanoma susceptibility 34. CDKN2A loss is a frequent event driving melanoma progression and is diagnostically important in mesothelioma, where homozygous deletion detected by FISH aids in diagnosis 51. Loss of CDKN2A expression occurs across multiple cancer types and correlates with poor survival in certain malignancies, with aberrant expression linked to cell cycle deregulation, p53 signaling, and immune infiltration 6. Deleterious mutations in p14ARF can alter protein stability and disrupt protein-protein interactions, compromising multiple signaling cascades and contributing to cancer development 7. Therapeutically, CDK4/6 inhibition targeting p16 substrates represents a primary strategy for precision medicine in CDKN2A-deficient melanomas 1.

Sources cited
1
CDKN2A loss drives melanoma progression; p16 targets CDK4/6 for therapeutic inhibition
PMID: 36123181
2
p16INK4A expression marks cellular senescence and is upregulated in renal disease progression
PMID: 29440280
3
CDKN2A mutations cause majority of hereditary melanoma cases
PMID: 32249949
4
Germline CDKN2A mutations detected in autosomal dominant familial melanoma with high penetrance
PMID: 15609895
5
CDKN2A homozygous deletion by FISH diagnostic for mesothelioma in situ
PMID: 34465883
6
CDKN2A aberrant expression associated with poor survival and immune infiltration across cancer types
PMID: 37026918
7
Deleterious p14ARF mutations alter protein stability and protein-protein interactions in cancer
PMID: 35446184
Disease Associationsβ“˜23
melanoma, cutaneous malignant, susceptibility to, 2Open Targets
0.84Strong
cutaneous melanomaOpen Targets
0.83Strong
melanomaOpen Targets
0.82Strong
familial atypical multiple mole melanoma syndromeOpen Targets
0.80Strong
melanoma and neural system tumor syndromeOpen Targets
0.70Moderate
head and neck squamous cell carcinomaOpen Targets
0.64Moderate
squamous cell lung carcinomaOpen Targets
0.64Moderate
cancerOpen Targets
0.61Moderate
hepatocellular carcinomaOpen Targets
0.61Moderate
familial melanomaOpen Targets
0.59Moderate
superficial spreading melanomaOpen Targets
0.58Moderate
neurodegenerative diseaseOpen Targets
0.58Moderate
hereditary neoplastic syndromeOpen Targets
0.58Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.57Moderate
esophageal cancerOpen Targets
0.57Moderate
pancreatic adenocarcinomaOpen Targets
0.57Moderate
urinary bladder cancerOpen Targets
0.55Moderate
lung adenocarcinomaOpen Targets
0.54Moderate
non-small cell lung carcinomaOpen Targets
0.53Moderate
Alzheimer diseaseOpen Targets
0.53Moderate
Familial atypical multiple mole melanoma-pancreatic carcinoma syndromeUniProt
Melanoma-astrocytoma syndromeUniProt
Melanoma, cutaneous malignant 2UniProt
Pathogenic Variants174
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)Pathogenic
Melanoma, cutaneous malignant, susceptibility to, 2|Melanoma-pancreatic cancer syndrome|Hereditary cancer-predisposing syndrome|Familial melanoma|not provided|Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome|Melanoma and neural system tumor syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 59
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)Likely pathogenic
Familial melanoma|not provided|Hereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|Melanoma and neural system tumor syndrome|Familial meningioma
β˜…β˜…β˜†β˜†2026β†’ Residue 87
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)Pathogenic
Melanoma, cutaneous malignant, susceptibility to, 2|Melanoma-pancreatic cancer syndrome|Hereditary cancer-predisposing syndrome|Familial melanoma|not provided|Melanoma|Melanoma and neural system tumor syndrome|CDKN2A-related disorder|Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 101
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)Pathogenic
Melanoma, cutaneous malignant, susceptibility to, 2|Familial melanoma|Hereditary cancer-predisposing syndrome|not provided|Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome|Melanoma and neural system tumor syndrome|Melanoma-pancreatic cancer syndrome|CDKN2A-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 4
NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly)Pathogenic
Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma and neural system tumor syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 112
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)Pathogenic
Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 81
NM_058195.4(CDKN2A):c.194-3653G>TPathogenic
not provided|Familial melanoma|Hereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome|Melanoma, cutaneous malignant, susceptibility to, 2|Ovarian neoplasm;Melanoma|Melanoma and neural system tumor syndrome|CDKN2A-related disorder
β˜…β˜…β˜†β˜†2026
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)Pathogenic
Melanoma, cutaneous malignant, susceptibility to, 2|Hereditary cancer-predisposing syndrome|not provided|Familial melanoma|Melanoma-pancreatic cancer syndrome|Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome|Melanoma and neural system tumor syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 24
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile)Pathogenic
Melanoma, cutaneous malignant, susceptibility to, 2|Hereditary cancer-predisposing syndrome|not provided|Familial melanoma|Melanoma and neural system tumor syndrome|CDKN2A-related disorder|Melanoma-pancreatic cancer syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 53
NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile)Pathogenic
Melanoma, cutaneous malignant, susceptibility to, 2|Familial melanoma|Hereditary cancer-predisposing syndrome|not provided|Melanoma-pancreatic cancer syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 56
NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro)Likely pathogenic
Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 50
NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup)Pathogenic
Hereditary cancer-predisposing syndrome|Familial melanoma|not provided|Melanoma and neural system tumor syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 112
NM_000077.5(CDKN2A):c.458-105A>GPathogenic
Familial melanoma|Hereditary cancer-predisposing syndrome|not provided|Melanoma, cutaneous malignant, susceptibility to, 2|Melanoma and neural system tumor syndrome|Melanoma-pancreatic cancer syndrome|Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome|Malignant tumor of esophagus
β˜…β˜…β˜†β˜†2025
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)Pathogenic
Familial melanoma|Hereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|not provided|Melanoma and neural system tumor syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 153
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile)Pathogenic
Familial melanoma|Hereditary cancer-predisposing syndrome|not provided|Melanoma and neural system tumor syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 53
NM_000077.5(CDKN2A):c.44G>A (p.Trp15Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 15
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)Pathogenic
not provided|Familial melanoma|Melanoma-pancreatic cancer syndrome|Hereditary cancer-predisposing syndrome|Melanoma and neural system tumor syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 49
NM_000077.5(CDKN2A):c.106dup (p.Ala36fs)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 36
NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter)Pathogenic
Lip and oral cavity carcinoma|Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome|Neoplasm
β˜…β˜…β˜†β˜†2025β†’ Residue 110
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro)Likely pathogenic
Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 99
View on ClinVar β†—
Related Genes
MDM4Protein interaction100%CTBP2Protein interaction100%E4F1Protein interaction100%FHITProtein interaction100%MC1RProtein interaction100%TOP1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
4%
Bone Marrow
4%
Liver
2%
Ovary
1%
Heart
1%
Gene Interaction Network
Click a node to explore
CDKN2AMDM4CTBP2E4F1FHITMC1RTOP1
PROTEIN STRUCTURE
Preparing viewer…
PDB7OZT Β· 1.74 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.79LoF Tolerant
pLIβ“˜
0.62Intermediate
Observed/Expected LoF0.31 [0.14–0.79]
RankingsWhere CDKN2A stands among ~20K protein-coding genes
  • #29of 20,598
    Most Researched2,698 Β· top 1%
  • #418of 5,498
    Most Pathogenic Variants174 Β· top 10%
  • #6,532of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedCDKN2A
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Pleural mesothelioma classification-update and challenges.
PMID: 34465883
Mod Pathol Β· 2022
1.00
2
Germline mutations predisposing to melanoma.
PMID: 32249949
J Cutan Pathol Β· 2020
0.90
3
Analysis of CDKN2A, CDKN2B, CDKN2C, and cyclin Ds gene status in hepatoblastoma.
PMID: 9537438
Hepatology Β· 1998
0.82
4
Therapeutic Strategies for Targeting CDKN2A Loss in Melanoma.
PMID: 36123181
J Invest Dermatol Β· 2023
0.80
5
Loss of CDKN2A and p14ARF expression occurs frequently in human nonmelanoma skin cancers.
PMID: 18070208
Br J Dermatol Β· 2008
0.80