Details for: CDKN2A

Gene ID: 1029

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: CDKN2A

Ensembl ID: ENSG00000147889

Description: cyclin dependent kinase inhibitor 2A

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • fallopian tube secretory epithelial cell CL4030006
    CSI 25.85
    rCSI 24.88%
    PRS 87.91
  • stem cell CL0000034
    CSI 10.8
    rCSI 10.41%
    PRS 84.86
  • pancreatic A cell CL0000171
    CSI 10.61
    rCSI 11.11%
    PRS 91.28
  • pancreatic D cell CL0000173
    CSI 10.39
    rCSI 10.22%
    PRS 90.97
  • enteroendocrine cell CL0000164
    CSI 10.15
    rCSI 13.86%
    PRS 87.9
  • epithelial cell CL0000066
    CSI 8.97
    rCSI 13.79%
    PRS 77.8
  • club cell CL0000158
    CSI 7.68
    rCSI 11.25%
    PRS 84.56
  • conventional dendritic cell CL0000990
    CSI 6.46
    rCSI 5.39%
    PRS 84.92
  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 6.15
    rCSI 7.45%
    PRS 69.97
  • nasal mucosa goblet cell CL0002480
    CSI 6.01
    rCSI 6.97%
    PRS 90.01
  • mammary gland epithelial cell CL0002327
    CSI 5.88
    rCSI 20.64%
    PRS 93.35
  • P/D1 enteroendocrine cell CL0002268
    CSI 5.31
    rCSI 28.89%
    PRS 91.98
  • CD4-positive, CD25-positive, alpha-beta regulatory T cell CL0000792
    CSI 5.14
    rCSI 5.05%
    PRS 97.22
  • multi-ciliated epithelial cell CL0005012
    CSI 4.91
    rCSI 4.9%
    PRS 83.62
  • mature T cell CL0002419
    CSI 4.85
    rCSI 3.78%
    PRS 96.78
  • innate lymphoid cell CL0001065
    CSI 4.74
    rCSI 9.79%
    PRS 84.04
  • plasmablast CL0000980
    CSI 4.62
    rCSI 3.64%
    PRS 91.84
  • intrahepatic cholangiocyte CL0002538
    CSI 4.15
    rCSI 9.95%
    PRS 89.69
  • choroid plexus epithelial cell CL0000706
    CSI 3.94
    rCSI 6.45%
    PRS 81.59
  • type EC enteroendocrine cell CL0000577
    CSI 3.84
    rCSI 13.63%
    PRS 90.6
  • basal cell of epidermis CL0002187
    CSI 3.73
    rCSI 6.61%
    PRS 60.06
  • ciliated epithelial cell CL0000067
    CSI 3.72
    rCSI 3.27%
    PRS 80.41
  • pancreatic acinar cell CL0002064
    CSI 3.12
    rCSI 4.15%
    PRS 92.31
  • ciliated cell CL0000064
    CSI 3.04
    rCSI 4.93%
    PRS 83.64
  • melanocyte of skin CL1000458
    CSI 3.03
    rCSI 4.13%
    PRS 59.39
  • secretory cell CL0000151
    CSI 2.92
    rCSI 3.05%
    PRS 88.17
  • cytotoxic T cell CL0000910
    CSI 2.78
    rCSI 15.91%
    PRS 88.9
  • type B pancreatic cell CL0000169
    CSI 2.7
    rCSI 5.97%
    PRS 89.18
  • lung ciliated cell CL1000271
    CSI 2.65
    rCSI 3.06%
    PRS 83.49
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 2.59
    rCSI 5.9%
    PRS 82.52
  • pancreatic ductal cell CL0002079
    CSI 2.5
    rCSI 4.85%
    PRS 90.93
  • conjunctival epithelial cell CL1000432
    CSI 2.35
    rCSI 3.59%
    PRS 88.62
  • respiratory hillock cell CL4030023
    CSI 2.04
    rCSI 3.63%
    PRS 93.23
  • placental villous trophoblast CL2000060
    CSI 1.96
    rCSI 3.03%
    PRS 87.55
  • helper T cell CL0000912
    CSI 1.76
    rCSI 2.49%
    PRS 85.54
  • squamous epithelial cell CL0000076
    CSI 1.74
    rCSI 4.14%
    PRS 86.88
  • corneal epithelial cell CL0000575
    CSI 1.31
    rCSI 3.75%
    PRS 91.48
  • CD8-positive, CD28-negative, alpha-beta regulatory T cell CL0000920
    CSI 1.28
    rCSI 2.55%
    PRS 95.94
  • deuterosomal cell CL4033044
    CSI 1.18
    rCSI 4%
    PRS 84.59
  • epithelial cell of urethra CL1000296
    CSI 1.16
    rCSI 29.22%
    PRS 92.28
  • pancreatic PP cell CL0002275
    CSI 0.97
    rCSI 3.86%
    PRS 92.85
  • large pre-B-II cell CL0000957
    CSI 0.85
    rCSI 2.43%
    PRS 90.33
  • suprabasal keratinocyte CL4033013
    CSI 0.82
    rCSI 1.34%
    PRS 59.66
  • endothelial cell of placenta CL0009092
    CSI 0.7
    rCSI 3.45%
    PRS 93.39

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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Comma-separated if multiple.

Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [CDKN2A](/details-gene/1029) is a critical tumor suppressor gene located on chromosome 9p21.3 that plays a central role in regulating the cell cycle. It is unique in that it encodes two distinct proteins through the use of an alternative reading frame: the cyclin-dependent kinase inhibitor p16(INK4a) and the p53-stabilizing protein p14(ARF). The p16(INK4a) protein functions as an inhibitor of cyclin-dependent kinases CDK4 and CDK6, thereby preventing cell cycle progression from G1 to S phase. The p14(ARF) protein acts by sequestering the E3 ubiquitin-protein ligase MDM2, which prevents the degradation of the tumor suppressor p53 ([Link](https://doi.org/10.1093/emboj/17.17.5001)). **Overall**, expression data reveals that [CDKN2A](/details-gene/1029) is most significant in secretory epithelial lineages, particularly [fallopian tube secretory epithelial cell](/details-cell/CL4030006)s, as well as various endocrine cells and [stem cell](/details-cell/CL0000034)s. This expression pattern underscores its role in tightly controlling proliferation in tissues with high regenerative capacity. Germline mutations in this gene are associated with an increased risk for several cancers, including melanoma and pancreatic cancer ([155601](https://omim.org/entry/155601), [600160](https://omim.org/entry/600160)). ## Cellular Roles and Expression Landscape The expression profile of [CDKN2A](/details-gene/1029) highlights its importance in specific cellular contexts, primarily those requiring stringent control over cell division and senescence. **Overall**, the gene shows exceptionally high significance in [fallopian tube secretory epithelial cell](/details-cell/CL4030006) (CSI: 25.85), suggesting it is a defining molecular feature and a key guardian of genomic stability in this cell type. Its high significance extends to a broad range of secretory and epithelial cells, including [club cell](/details-cell/CL0000158)s, [nasal mucosa goblet cell](/details-cell/CL0002480)s, and [mammary gland epithelial cell](/details-cell/CL0002327)s. This pattern is consistent with its function as a barrier against oncogenic transformation in tissues that are constantly exposed to environmental stimuli and have high turnover rates. A second major functional niche for [CDKN2A](/details-gene/1029) appears to be in endocrine regulation and progenitor cell populations. It is a significant marker in [pancreatic A cell](/details-cell/CL0000171), [pancreatic D cell](/details-cell/CL0000173), and [enteroendocrine cell](/details-cell/CL0000164)s, as well as undifferentiated [stem cell](/details-cell/CL0000034)s. This suggests a role in maintaining cellular quiescence and regulating the balance between self-renewal and differentiation. Furthermore, [CDKN2A](/details-gene/1029) is moderately significant in several lymphocyte populations, including [CD8-positive, alpha-beta memory T cell, CD45RO-positive](/details-cell/CL0001203) and [CD4-positive, CD25-positive, alpha-beta regulatory T cell](/details-cell/CL0000792). This expression may be involved in regulating clonal expansion during an immune response and inducing senescence in exhausted T cells, thereby shaping long-term immunological memory. The focused expression in these specific cell lineages implies a less significant role in many other tissues, such as those comprising muscle or mature neuronal populations. ## Pathways and Molecular Function The functional annotations for [CDKN2A](/details-gene/1029) confirm its identity as a master regulator of cell fate decisions, operating at the nexus of cell cycle control, apoptosis, and cellular senescence. Its primary molecular function is as a [cyclin-dependent protein serine/threonine kinase inhibitor](/details-go/GO:0004861), which is central to its role in the [regulation of G1/S transition of mitotic cell cycle](/details-go/GO:2000045). This is achieved through its p16(INK4a) protein product, which binds to and inhibits CDK4/6, preventing the phosphorylation of retinoblastoma protein (RB) and halting the cell cycle. This activity is a cornerstone of the [Cell cycle](/details-reactome/R-HSA-1640170) and [Cell cycle checkpoints](/details-reactome/R-HSA-69620) Reactome pathways. Through its p14(ARF) product, the gene is a critical upstream regulator of the TP53 pathway. Functional data show its involvement in the [positive regulation of signal transduction by p53 class mediator](/details-go/GO:1901798) and the [stabilization of p53](/details-reactome/R-HSA-69541). The p14(ARF) protein binds to MDM2, an E3-ubiquitin ligase that targets p53 for degradation, thereby stabilizing p53 levels in response to oncogenic stress ([Link](https://doi.org/10.1016/j.cell.2005.03.037)). This leads to the activation of downstream processes including [cellular senescence](/details-go/GO:0090398) and [apoptosis](/details-reactome/R-HSA-109581). The extensive involvement in pathways like [Oncogene induced senescence](/details-reactome/R-HSA-2559585) and [Diseases of cellular senescence](/details-reactome/R-HSA-9630747) highlights why its inactivation is a common event in human cancer. The gene's connection to these fundamental processes is consistent with its high expression in progenitor cells and high-turnover epithelia, where such control mechanisms are vital. ## Research Directions Given its established role as a tumor suppressor, research on [CDKN2A](/details-gene/1029) remains highly relevant, particularly in understanding tissue-specific mechanisms of cancer initiation and immune regulation. ### Proposed Hypotheses 1. The exceptionally high and specific significance of [CDKN2A](/details-gene/1029) in [fallopian tube secretory epithelial cell](/details-cell/CL4030006)s suggests that its inactivation via mutation or epigenetic silencing is a critical and possibly initiating event in the development of high-grade serous ovarian carcinoma, which is thought to originate in these cells. 2. In the immune system, [CDKN2A](/details-gene/1029) expression in [CD4-positive, CD25-positive, alpha-beta regulatory T cell](/details-cell/CL0000792)s and memory T cells ([CD8-positive, alpha-beta memory T cell, CD45RO-positive](/details-cell/CL0001203)) is essential for enforcing cellular senescence to limit excessive inflammation and maintain a stable pool of memory cells. Its dysregulation may contribute to age-related immune decline (immunosenescence) or autoimmune pathology. ### Key Experiment To test the hypothesis regarding the role of [CDKN2A](/details-gene/1029) in fallopian tube epithelial transformation (Hypothesis 1), a robust experimental approach would involve organoid technology. - **Experiment:** Establish primary human fallopian tube secretory epithelial organoid cultures. Using CRISPR-Cas9, generate a stable knockout of the [CDKN2A](/details-gene/1029) locus. Concurrently, introduce a common cooperating oncogenic mutation found in ovarian cancer (e.g., a dominant-negative TP53 mutation). Monitor the dual-mutant and single-mutant organoids over several months. - **Analysis:** Assess for hallmarks of malignant transformation, including increased proliferation rates (via EdU incorporation and Ki-67 staining), loss of apical-basal polarity (via confocal microscopy of tight junction markers), accumulation of DNA damage (gamma-H2AX foci), and changes in gene expression signatures associated with early-stage serous carcinoma (via single-cell RNA-sequencing). This model would directly test if [CDKN2A](/details-gene/1029) loss is sufficient to initiate or accelerate oncogenesis in this specific cell of origin. ### Therapeutic Potential As a tumor suppressor gene, [CDKN2A](/details-gene/1029) itself is not a direct target for inhibition. Instead, therapeutic strategies focus on compensating for its loss, which is frequent in many cancers. The most successful clinical application of this concept is the development of small-molecule inhibitors targeting CDK4 and CDK6 (e.g., palbociclib, ribociclib). These drugs effectively reinstate the G1 cell cycle block that is lost when the p16(INK4a) protein is absent, providing a powerful synthetic lethal strategy for [CDKN2A](/details-gene/1029)-deficient tumors. Future therapeutic avenues could include gene therapies aimed at re-introducing functional [CDKN2A](/details-gene/1029) or developing drugs that restore the p14(ARF)-p53 axis. Furthermore, the methylation status or expression level of [CDKN2A](/details-gene/1029) serves as a valuable prognostic and predictive biomarker in multiple cancer types.

Genular Protein ID: 4102692825

Symbol: ARF_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7606716

Title: Complex structure and regulation of the P16 (MTS1) locus.

PubMed ID: 7606716

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7624129

Title: A new type of p16INK4/MTS1 gene transcript expressed in B-cell malignancies.

PubMed ID: 7624129

PubMed ID: 9724636

Title: The alternative product from the human CDKN2A locus, p14(ARF), participates in a regulatory feedback loop with p53 and MDM2.

PubMed ID: 9724636

DOI: 10.1093/emboj/17.17.5001

PubMed ID: 11314011

Title: Human ARF protein interacts with topoisomerase I and stimulates its activity.

PubMed ID: 11314011

DOI: 10.1038/sj.onc.1204170

PubMed ID: 11314038

Title: Human ARF binds E2F1 and inhibits its transcriptional activity.

PubMed ID: 11314038

DOI: 10.1038/sj.onc.1204220

PubMed ID: 12154087

Title: CARF is a novel protein that cooperates with mouse p19ARF (human p14ARF) in activating p53.

PubMed ID: 12154087

DOI: 10.1074/jbc.m204177200

PubMed ID: 12581788

Title: A novel putative collaborator of p19ARF.

PubMed ID: 12581788

DOI: 10.1016/s0531-5565(02)00180-8

PubMed ID: 12446718

Title: Association of p14ARF with the p120E4F transcriptional repressor enhances cell cycle inhibition.

PubMed ID: 12446718

DOI: 10.1074/jbc.m210978200

PubMed ID: 14636574

Title: Tumor suppressor ARF degrades B23, a nucleolar protein involved in ribosome biogenesis and cell proliferation.

PubMed ID: 14636574

DOI: 10.1016/s1097-2765(03)00431-3

PubMed ID: 12660818

Title: p14ARF induces G2 arrest and apoptosis independently of p53 leading to regression of tumours established in nude mice.

PubMed ID: 12660818

DOI: 10.1038/sj.onc.1206303

PubMed ID: 15361825

Title: Human Arf tumor suppressor specifically interacts with chromatin containing the promoter of rRNA genes.

PubMed ID: 15361825

DOI: 10.1038/sj.onc.1207968

PubMed ID: 15567177

Title: The ARF tumor suppressor inhibits BCL6-mediated transcriptional repression.

PubMed ID: 15567177

DOI: 10.1016/j.bbrc.2004.11.016

PubMed ID: 15989956

Title: ARF-BP1/Mule is a critical mediator of the ARF tumor suppressor.

PubMed ID: 15989956

DOI: 10.1016/j.cell.2005.03.037

PubMed ID: 15876874

Title: p14ARF interacts with the SUMO-conjugating enzyme Ubc9 and promotes the sumoylation of its binding partners.

PubMed ID: 15876874

DOI: 10.4161/cc.4.4.1597

PubMed ID: 16173922

Title: A novel ARF-binding protein (LZAP) alters ARF regulation of HDM2.

PubMed ID: 16173922

DOI: 10.1042/bj20050960

PubMed ID: 16713577

Title: A short mitochondrial form of p19ARF induces autophagy and caspase-independent cell death.

PubMed ID: 16713577

DOI: 10.1016/j.molcel.2006.04.014

PubMed ID: 17110379

Title: A novel nuclear interactor of ARF and MDM2 (NIAM) that maintains chromosomal stability.

PubMed ID: 17110379

DOI: 10.1074/jbc.m609612200

PubMed ID: 17486078

Title: The autophagic inducer smARF interacts with and is stabilized by the mitochondrial p32 protein.

PubMed ID: 17486078

DOI: 10.1038/sj.onc.1210485

PubMed ID: 18305112

Title: Tumor suppressor ARF promotes non-classic proteasome-independent polyubiquitination of COMMD1.

PubMed ID: 18305112

DOI: 10.1074/jbc.m708544200

PubMed ID: 20208519

Title: Transcription-independent ARF regulation in oncogenic stress-mediated p53 responses.

PubMed ID: 20208519

DOI: 10.1038/nature08820

PubMed ID: 22094112

Title: A novel proapoptotic gene PANO encodes a post-translational modulator of the tumor suppressor p14ARF.

PubMed ID: 22094112

DOI: 10.1016/j.yexcr.2011.10.019

PubMed ID: 27323397

Title: GLTSCR2 promotes the nucleoplasmic translocation and subsequent degradation of nucleolar ARF.

PubMed ID: 27323397

DOI: 10.18632/oncotarget.9957

Sequence Information:

  • Length: 132
  • Mass: 13903
  • Checksum: 7739A9050C21BC96
  • Sequence:
  • MVRRFLVTLR IRRACGPPRV RVFVVHIPRL TGEWAAPGAP AAVALVLMLL RSQRLGQQPL 
    PRRPGHDDGQ RPSGGAAAAP RRGAQLRRPR HSHPTRARRC PGGLPGHAGG AAPGRGAAGR 
    ARCLGPSARG PG

Genular Protein ID: 401276940

Symbol: CDN2A_HUMAN

Name: Cyclin-dependent kinase 4 inhibitor A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8259215

Title: A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4.

PubMed ID: 8259215

DOI: 10.1038/366704a0

PubMed ID: 10445844

Title: Tissue-specific alternative splicing in the human INK4a/ARF cell cycle regulatory locus.

PubMed ID: 10445844

DOI: 10.1038/sj.onc.1202737

PubMed ID: 12228235

Title: Prevalent involvement of illegitimate V(D)J recombination in chromosome 9p21 deletions in lymphoid leukemia.

PubMed ID: 12228235

DOI: 10.1074/jbc.m208353200

PubMed ID: 17486064

Title: Human p16gamma, a novel transcriptional variant of p16(INK4A), coexpresses with p16(INK4A) in cancer cells and inhibits cell-cycle progression.

PubMed ID: 17486064

DOI: 10.1038/sj.onc.1210507

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 8622687

Title: Regulation of p16CDKN2 expression and its implications for cell immortalization and senescence.

PubMed ID: 8622687

DOI: 10.1128/mcb.16.3.859

PubMed ID: 8152487

Title: Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers.

PubMed ID: 8152487

DOI: 10.1038/368753a0

PubMed ID: 8153634

Title: A cell cycle regulator potentially involved in genesis of many tumor types.

PubMed ID: 8153634

DOI: 10.1126/science.8153634

PubMed ID: 7972006

Title: Mutations and altered expression of p16INK4 in human cancer.

PubMed ID: 7972006

DOI: 10.1073/pnas.91.23.11045

PubMed ID: 12529334

Title: Phosphorylation of p16INK4A correlates with Cdk4 association.

PubMed ID: 12529334

DOI: 10.1074/jbc.c200622200

PubMed ID: 16782892

Title: Regulated activating Thr172 phosphorylation of cyclin-dependent kinase 4(CDK4): its relationship with cyclins and CDK 'inhibitors'.

PubMed ID: 16782892

DOI: 10.1128/mcb.02006-05

PubMed ID: 17658461

Title: Identification and characterization of a novel protein ISOC2 that interacts with p16INK4a.

PubMed ID: 17658461

DOI: 10.1016/j.bbrc.2007.06.181

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 9751050

Title: Structural basis for inhibition of the cyclin-dependent kinase Cdk6 by the tumour suppressor p16INK4a.

PubMed ID: 9751050

DOI: 10.1038/26155

PubMed ID: 10556039

Title: Tumor suppressor INK4: comparisons of conformational properties between p16(INK4A) and p18(INK4C).

PubMed ID: 10556039

DOI: 10.1006/jmbi.1999.3231

PubMed ID: 10892805

Title: Tumor suppressor INK4: refinement of p16INK4A structure and determination of p15INK4B structure by comparative modeling and NMR data.

PubMed ID: 10892805

DOI: 10.1110/ps.9.6.1120

PubMed ID: 8783570

Title: CDKN2 mutations in melanoma.

PubMed ID: 8783570

PubMed ID: 8723678

Title: CDKN2A (p16INK4A) somatic and germline mutations.

PubMed ID: 8723678

DOI: 10.1002/(sici)1098-1004(1996)7:4<294::aid-humu2>3.0.co;2-9

PubMed ID: 8060323

Title: Somatic mutations of the MTS (multiple tumor suppressor) 1/CDK4l (cyclin-dependent kinase-4 inhibitor) gene in human primary non-small cell lung carcinomas.

PubMed ID: 8060323

DOI: 10.1006/bbrc.1994.2090

PubMed ID: 7987387

Title: Germline p16 mutations in familial melanoma.

PubMed ID: 7987387

DOI: 10.1038/ng0994-15

PubMed ID: 7970734

Title: The MTS1 gene is frequently mutated in primary human esophageal tumors.

PubMed ID: 7970734

PubMed ID: 7882351

Title: Mutations in the p16INK4/MTS1/CDKN2, p15INK4B/MTS2, and p18 genes in primary and metastatic lung cancer.

PubMed ID: 7882351

PubMed ID: 8595405

Title: Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds.

PubMed ID: 8595405

DOI: 10.1093/hmg/4.10.1845

PubMed ID: 7647780

Title: Mutations associated with familial melanoma impair p16INK4 function.

PubMed ID: 7647780

DOI: 10.1038/ng0595-114

PubMed ID: 8653684

Title: Novel germline p16 mutation in familial malignant melanoma in southern Sweden.

PubMed ID: 8653684

PubMed ID: 8710906

Title: Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population.

PubMed ID: 8710906

DOI: 10.1073/pnas.93.16.8541

PubMed ID: 9328469

Title: Germline mutations of the CDKN2 gene in UK melanoma families.

PubMed ID: 9328469

DOI: 10.1093/hmg/6.12.2061

PubMed ID: 9425228

Title: Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France.

PubMed ID: 9425228

DOI: 10.1093/hmg/7.2.209

PubMed ID: 10651484

Title: Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas.

PubMed ID: 10651484

PubMed ID: 10484981

Title: Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family.

PubMed ID: 10484981

DOI: 10.1016/s0165-4608(98)00276-3

PubMed ID: 11506491

Title: A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

PubMed ID: 11506491

DOI: 10.1054/bjoc.2001.1944

PubMed ID: 11136714

Title: A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family.

PubMed ID: 11136714

DOI: 10.1093/hmg/10.1.55

PubMed ID: 12019208

Title: Germline mutation of ARF in a melanoma kindred.

PubMed ID: 12019208

DOI: 10.1093/hmg/11.11.1273

PubMed ID: 10874641

Title: CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.

PubMed ID: 10874641

PubMed ID: 12556369

Title: Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma.

PubMed ID: 12556369

DOI: 10.1167/iovs.02-0026

PubMed ID: 14646619

Title: A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

PubMed ID: 14646619

DOI: 10.1097/01.cmr.0000056289.15046.c0

PubMed ID: 19260062

Title: Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

PubMed ID: 19260062

DOI: 10.1002/humu.20845

Sequence Information:

  • Length: 156
  • Mass: 16533
  • Checksum: E59C0E6174B48255
  • Sequence:
  • MEPAAGSSME PSADWLATAA ARGRVEEVRA LLEAGALPNA PNSYGRRPIQ VMMMGSARVA 
    ELLLLHGAEP NCADPATLTR PVHDAAREGF LDTLVVLHRA GARLDVRDAW GRLPVDLAEE 
    LGHRDVARYL RAAAGGTRGS NHARIDAAEG PSDIPD