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Aliases for CDKN2A Gene

Aliases for CDKN2A Gene

  • Cyclin Dependent Kinase Inhibitor 2A 2 3 5
  • Cyclin-Dependent Kinase Inhibitor 2A (Melanoma, P16, Inhibits CDK4) 2 3
  • Cyclin-Dependent Kinase 4 Inhibitor A 3 4
  • Cyclin-Dependent Kinase Inhibitor 2A 3 4
  • Multiple Tumor Suppressor 1 3 4
  • Alternative Reading Frame 3 4
  • P16-INK4A 3 4
  • P16INK4A 3 4
  • P14ARF 3 4
  • CDKN2 3 4
  • CDK4I 3 4
  • MTS-1 3 4
  • MTS1 3 4
  • MLM 3 4
  • ARF 3 4
  • Cell Cycle Negative Regulator Beta 3
  • CDK4 Inhibitor P16-INK4 3
  • P16-INK4 4
  • P16INK4 3
  • P19ARF 3
  • INK4A 3
  • CMM2 3
  • INK4 3
  • TP16 3
  • P14 3
  • P16 3
  • P19 3

External Ids for CDKN2A Gene

Previous HGNC Symbols for CDKN2A Gene

  • CDKN2
  • MLM

Previous GeneCards Identifiers for CDKN2A Gene

  • GC09M022295
  • GC09M022168

Summaries for CDKN2A Gene

Entrez Gene Summary for CDKN2A 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 inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]

CIViC summary for CDKN2A Gene

  • CDKN2A loss has been shown to be a significant event in a number of cancer types. While no targeted therapeutic has been engaged in clinical trials, the prognostic impact has been studied by a number of meta-analyses. In majority of cases CDKN2A is inactivated by homozygous deletions. One of the mechanisms by which loss of CDKN2A can occur is by hypermethylation of the promoter region for the gene. However, the prognostic impact of promoter hypermethylation has been relatively ambiguous. Many studies have suggesting poorer prognostic outcome for patients with hypermethylation in colorectal, liver, and younger lung cancer patients. This being said, there is still research to be done before this becomes a widely-accepted prognostic indicator. Additionally, CDKN2A (p16) expression is a surrogate marker for HPV infection. As such, CDKN2A expression is prognostic in Oropharyngeal and probably also non-oropharyngeal head and neck squamous cell carcinomas.

GeneCards Summary for CDKN2A Gene

CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) is a Protein Coding gene. Diseases associated with CDKN2A include Melanoma-Pancreatic Cancer Syndrome and Melanoma-Astrocytoma Syndrome. Among its related pathways are Apoptosis Modulation and Signaling and Chronic myeloid leukemia. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is CDKN2B.

UniProtKB/Swiss-Prot for CDKN2A Gene

  • 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-induced degradation of p53 and enhancing p53-dependent transactivation and apoptosis. Also induces G2 arrest and apoptosis in a p53-independent manner by preventing the activation of cyclin B1/CDC2 complexes. Binds to BCL6 and down-regulates BCL6-induced transcriptional repression. Binds to E2F1 and MYC and blocks their transcriptional activator activity but has no effect on MYC transcriptional repression. Binds to TOP1/TOPOI and stimulates its activity. This complex binds to rRNA gene promoters and may play a role in rRNA transcription and/or maturation. Interacts with NPM1/B23 and promotes its polyubiquitination and degradation, thus inhibiting rRNA processing. Interacts with COMMD1 and promotes its Lys63-linked polyubiquitination. Interacts with UBE2I/UBC9 and enhances sumoylation of a number of its binding partners including MDM2 and E2F1. Binds to HUWE1 and represses its ubiquitin ligase activity. May play a role in controlling cell proliferation and apoptosis during mammary gland development. Isoform smARF may be involved in regulation of autophagy and caspase-independent cell death; the short-lived mitochondrial isoform is stabilized by C1QBP.

  • 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.

Gene Wiki entry for CDKN2A Gene

Additional gene information for CDKN2A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDKN2A Gene

Genomics for CDKN2A Gene

GeneHancer (GH) Regulatory Elements for CDKN2A Gene

Promoters and enhancers for CDKN2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I021992 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.6 633 3.7 HDGF PKNOX1 SIN3A FEZF1 ZNF2 GLIS2 RUNX3 SP3 TSHZ1 ZNF518A CDKN2B-AS1 CDKN2A ENSG00000266446 CDKN2B PIR47863 GC09M021977 ENSG00000264545
GH09I021974 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 562.7 +20.3 20336 1.4 PKNOX1 KLF17 MZF1 SIN3A ZNF48 ZNF335 GLIS2 ZNF213 SCRT2 KLF7 CDKN2A GC09M021977 PIR47863 MTAP CDKN2B UBA52P6 CDKN2A-AS1 ENSG00000264545
GH09I021996 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 557.1 -1.4 -1366 0.2 ZSCAN4 ZNF76 FEZF1 ZIC2 ZNF335 ZFHX2 GLIS2 PATZ1 PRDM10 EGR2 CDKN2A ENSG00000266446 CDKN2B-AS1 CDKN2B MTAP ENSG00000264545
GH09I021809 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +183.2 183206 4.8 PKNOX1 FOXA2 ARID4B SIN3A ZNF2 IRF4 YY1 ZNF143 FOS RUNX3 TUBB8P1 PIR60166 MTAP CDKN2B-AS1 CDKN2A CDKN2A-AS1 UBA52P6 CDKN2B ENSG00000264545
GH09I022116 Enhancer 1.4 VISTA Ensembl ENCODE dbSUPER 10.8 -122.8 -122757 3.1 CTCF KLF1 PKNOX1 USF1 MAX FEZF1 ZIC2 RAD21 RARA GATA3 ENSG00000277653 MTAP ENSG00000265194 KLHL9 CDKN2B-AS1 CDKN2A GC09M022195
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CDKN2A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDKN2A gene promoter:

Genomic Locations for CDKN2A Gene

Genomic Locations for CDKN2A Gene
chr9:21,967,752-21,995,301
(GRCh38/hg38)
Size:
27,550 bases
Orientation:
Minus strand
chr9:21,967,751-21,995,300
(GRCh37/hg19)

Genomic View for CDKN2A Gene

Genes around CDKN2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDKN2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDKN2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDKN2A Gene

Proteins for CDKN2A Gene

  • Protein details for CDKN2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42771-CDN2A_HUMAN
    Recommended name:
    Cyclin-dependent kinase inhibitor 2A
    Protein Accession:
    P42771
    Secondary Accessions:
    • A5X2G7
    • D3DRK1
    • O95440
    • Q15191
    • Q5VVJ5
    • Q96B52
    • Q9NP05

    Protein attributes for CDKN2A Gene

    Size:
    156 amino acids
    Molecular mass:
    16533 Da
    Quaternary structure:
    • Heterodimer with CDK4 or CDK6. Predominant p16 complexes contained CDK6. Interacts with CDK4 (both T-172-phosphorylated and non-phosphorylated forms); the interaction inhibits cyclin D-CDK4 kinase activity. Interacts with ISCO2.
    SequenceCaution:
    • Sequence=AAB60645.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CDKN2A Gene

    Alternative splice isoforms for CDKN2A Gene

  • Protein details for CDKN2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N726-ARF_HUMAN
    Recommended name:
    Tumor suppressor ARF
    Protein Accession:
    Q8N726
    Secondary Accessions:
    • D3DRK2
    • Q13195
    • Q13399
    • Q16360
    • Q7KZR9

    Protein attributes for CDKN2A Gene

    Size:
    132 amino acids
    Molecular mass:
    13903 Da
    Quaternary structure:
    • Does not interact with cyclins, CDK1, CDK2, CDK4, CDK5 or CDK6. Binds to BCL6, E2F1, HUWE1, MDM2, MYC, NPM1/B23, TOP1/TOPOI and UBE2I/UBC9. Interacts with TBRG1 and COMMD1. Interacts with CDKN2AIP and E4F1. Interacts with CDK5RAP3 and MDM2; form a ternary complex involved in regulation of p53/TP53 (PubMed:16173922). Isoform smARF interacts with C1QBP. Interacts with NOP53; the interaction is direct and promotes ARF nucleoplasmic relocalization and ubiquitin-mediated proteasomal degradation (PubMed:27323397).
    SequenceCaution:
    • Sequence=AAB01737.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAC60649.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH15960.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH21998.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAM77919.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAH70601.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW58600.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW58601.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CDKN2A Gene

neXtProt entry for CDKN2A Gene

Post-translational modifications for CDKN2A Gene

  • Phosphorylation seems to increase interaction with CDK4.
  • Ubiquitinated in normal cells by TRIP12 via the ubiquitin fusion degradation (UFD) pathway, a process that mediates ubiquitination at the N-terminus, regardeless of the absence of lysine residues. Ubiquitination leads to its proteasomal degradation. In cancer cells, however, TRIP12 is located in a different cell compartment, preventing ubiquitination and degradation.

Antibody Products

  • R&D Systems Antibodies for CDKN2A (p16INK4a / CDKN2A)
  • Cell Signaling Technology (CST) Antibodies for CDKN2A (p16-INK4A iso4)

No data available for DME Specific Peptides for CDKN2A Gene

Domains & Families for CDKN2A Gene

Gene Families for CDKN2A Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for CDKN2A Gene

Graphical View of Domain Structure for InterPro Entry

P42771

UniProtKB/Swiss-Prot:

ARF_HUMAN :
  • Belongs to the CDKN2 cyclin-dependent kinase inhibitor family.
Family:
  • Belongs to the CDKN2 cyclin-dependent kinase inhibitor family.
genes like me logo Genes that share domains with CDKN2A: view

Function for CDKN2A Gene

Molecular function for CDKN2A Gene

GENATLAS Biochemistry:
cyclin dependent kinases 4 and 6 (CDK4/CDK6) inhibitor p16 (p16INK4A),blocking them from phosphorylating RB1 and preventing exit from G1 phase of the cell cycle, encoding for an alternative reading frame p14ARF,homolog to murine p19ARF,putatively inducing G1 and G2 phase arrest,inactivated (LOH) in preneoplastic pancreatic duct lesions in head and neck cancer in progression and inactivated by hypermethylation in childhood lymphoblastic leukemia (see TSG9A)
UniProtKB/Swiss-Prot 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-induced degradation of p53 and enhancing p53-dependent transactivation and apoptosis. Also induces G2 arrest and apoptosis in a p53-independent manner by preventing the activation of cyclin B1/CDC2 complexes. Binds to BCL6 and down-regulates BCL6-induced transcriptional repression. Binds to E2F1 and MYC and blocks their transcriptional activator activity but has no effect on MYC transcriptional repression. Binds to TOP1/TOPOI and stimulates its activity. This complex binds to rRNA gene promoters and may play a role in rRNA transcription and/or maturation. Interacts with NPM1/B23 and promotes its polyubiquitination and degradation, thus inhibiting rRNA processing. Interacts with COMMD1 and promotes its Lys63-linked polyubiquitination. Interacts with UBE2I/UBC9 and enhances sumoylation of a number of its binding partners including MDM2 and E2F1. Binds to HUWE1 and represses its ubiquitin ligase activity. May play a role in controlling cell proliferation and apoptosis during mammary gland development. Isoform smARF may be involved in regulation of autophagy and caspase-independent cell death; the short-lived mitochondrial isoform is stabilized by C1QBP.
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for CDKN2A Gene

Gene Ontology (GO) - Molecular Function for CDKN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding HDA,IDA 22681889
GO:0004861 cyclin-dependent protein serine/threonine kinase inhibitor activity IDA 7739547
GO:0005515 protein binding IPI 9751050
GO:0008134 transcription factor binding IPI --
genes like me logo Genes that share ontologies with CDKN2A: view
genes like me logo Genes that share phenotypes with CDKN2A: view

Human Phenotype Ontology for CDKN2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDKN2A Gene

MGI Knock Outs for CDKN2A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CDKN2A Gene

Localization for CDKN2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDKN2A Gene

Cytoplasm. Nucleus.
Nucleus, nucleolus. Nucleus, nucleoplasm.
Isoform smARF: Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDKN2A gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
plasma membrane 3
golgi apparatus 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
endosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CDKN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16243918
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IDA 16243918
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with CDKN2A: view

Pathways & Interactions for CDKN2A Gene

genes like me logo Genes that share pathways with CDKN2A: view

SIGNOR curated interactions for CDKN2A Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CDKN2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle IDA 10208428
GO:0000209 protein polyubiquitination IDA --
GO:0001953 negative regulation of cell-matrix adhesion IMP 10205165
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with CDKN2A: view

Drugs & Compounds for CDKN2A Gene

(68) Drugs for CDKN2A Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
BAY1000394 Pharma Inhibition, Biomarker CDK4 Inhibitors, CDK2 Inhibitors 0
LEE011 Pharma inhibitor, Biomarker CDK4/6 inhibitor, CDK4 Inhibitors, Kinase Inhibitors 0
LY2835219 Pharma Inhibition, inhibitor, Biomarker CDK4/6 inhibitor,potent and selective, CDK4/6 inhibitor, CDK4 Inhibitors 0
PD-0332991 Pharma Biomarker CDK4 Inhibitors 0

(55) Additional Compounds for CDKN2A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CDKN2A: view

Transcripts for CDKN2A Gene

Unigene Clusters for CDKN2A Gene

Cyclin-dependent kinase inhibitor 2A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDKN2A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d
SP1: - - - - - - - - -
SP2: - - - -
SP3: - - -
SP4: - - - - - - - - - -
SP5: -
SP6: - - - - - - - - -
SP7: -
SP8: -

Relevant External Links for CDKN2A Gene

GeneLoc Exon Structure for
CDKN2A
ECgene alternative splicing isoforms for
CDKN2A

Expression for CDKN2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDKN2A Gene

mRNA differential expression in normal tissues according to GTEx for CDKN2A Gene

This gene is overexpressed in Pituitary (x10.1).

Protein differential expression in normal tissues from HIPED for CDKN2A Gene

This gene is overexpressed in Plasma (32.3), Lung (14.1), and Bone marrow stromal cell (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDKN2A Gene



NURSA nuclear receptor signaling pathways regulating expression of CDKN2A Gene:

CDKN2A

SOURCE GeneReport for Unigene cluster for CDKN2A Gene:

Hs.512599

mRNA Expression by UniProt/SwissProt for CDKN2A Gene:

P42771-CDN2A_HUMAN
Tissue specificity: Widely expressed but not detected in brain or skeletal muscle. Isoform 3 is pancreas-specific.

Evidence on tissue expression from TISSUES for CDKN2A Gene

  • Skin(4.6)
  • Intestine(3.1)
  • Nervous system(3)
  • Lung(2.7)
  • Lymph node(2.7)
  • Blood(2.6)
  • Pancreas(2.5)
  • Kidney(2.2)
  • Liver(2.2)
  • Stomach(2.2)
  • Bone marrow(2.1)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDKN2A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • lymphatic
  • nervous
  • respiratory
Organs:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
  • meninges
  • mouth
  • pharynx
Abdomen:
  • pancreas
General:
  • skin
genes like me logo Genes that share expression patterns with CDKN2A: view

No data available for Protein tissue co-expression partners for CDKN2A Gene

Orthologs for CDKN2A Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDKN2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDKN2A 33 34
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia CDKN2A 33
  • 86.67 (n)
cow
(Bos Taurus)
Mammalia CDKN2A 33 34
  • 85.04 (n)
rat
(Rattus norvegicus)
Mammalia Cdkn2a 33
  • 76.96 (n)
mouse
(Mus musculus)
Mammalia Cdkn2a 33 16
  • 75.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 66 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 57 (a)
ManyToMany
CDKN2A 34
  • 50 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CDKN2B 34
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 56 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cdkn2b 33
  • 56.06 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100329528 33
  • 52.26 (n)
BX323448.2 34
  • 45 (a)
ManyToMany
Species where no ortholog for CDKN2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CDKN2A Gene

ENSEMBL:
Gene Tree for CDKN2A (if available)
TreeFam:
Gene Tree for CDKN2A (if available)

Paralogs for CDKN2A Gene

Variants for CDKN2A Gene

Sequence variations from dbSNP and Humsavar for CDKN2A Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1014358179 likely-benign, uncertain-significance, Hereditary cutaneous melanoma, Hereditary cancer-predisposing syndrome 21,994,180(-) C/G coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant
rs104894094 risk-factor, pathogenic, uncertain-significance, Cutaneous malignant melanoma 2, Melanoma-pancreatic cancer syndrome, Hereditary cancer-predisposing syndrome, Hereditary cutaneous melanoma, not provided, Cutaneous melanoma, not specified, Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719], Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] 21,971,058(-) C/A/G/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104894095 risk-factor, pathogenic, Cutaneous malignant melanoma 2, Hereditary cancer-predisposing syndrome, Hereditary cutaneous melanoma, not provided, Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] 21,971,200(-) C/G/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs104894097 risk-factor, pathogenic, likely-pathogenic, uncertain-significance, Cutaneous malignant melanoma 2, Hereditary cancer-predisposing syndrome, not provided, Melanoma-pancreatic cancer syndrome, Hereditary cutaneous melanoma, Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] 21,974,757(-) C/G/T coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs104894098 risk-factor, pathogenic, Cutaneous malignant melanoma 2, Hereditary cancer-predisposing syndrome, not provided, Hereditary cutaneous melanoma, Melanoma-pancreatic cancer syndrome, Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] 21,970,982(-) A/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CDKN2A Gene

Variant ID Type Subtype PubMed ID
esv1425040 CNV deletion 17803354
esv2764150 CNV gain+loss 21179565
nsv1018514 CNV gain 25217958
nsv8426 CNV loss 18304495

Variation tolerance for CDKN2A Gene

Residual Variation Intolerance Score: 89.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDKN2A Gene

Human Gene Mutation Database (HGMD)
CDKN2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDKN2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDKN2A Gene

Disorders for CDKN2A Gene

MalaCards: The human disease database

(210) MalaCards diseases for CDKN2A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
melanoma-pancreatic cancer syndrome
  • familial atypical multiple mole melanoma-pancreatic carcinoma syndrome; fammmpc
melanoma-astrocytoma syndrome
  • melanoma and neural system tumor syndrome
melanoma, cutaneous malignant 2
  • melanoma, cutaneous malignant, susceptibility to, 2
dysplastic nevus syndrome
  • familial atypical multiple mole-melanoma
melanoma, cutaneous malignant 1
  • melanoma, cutaneous malignant, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ARF_HUMAN
  • Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719]: An inherited cancer predisposition syndrome characterized by an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]: A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. {ECO:0000269 PubMed:10651484, ECO:0000269 PubMed:10874641, ECO:0000269 PubMed:11506491, ECO:0000269 PubMed:12019208, ECO:0000269 PubMed:14646619, ECO:0000269 PubMed:19260062, ECO:0000269 PubMed:7987387, ECO:0000269 PubMed:8595405, ECO:0000269 PubMed:8653684, ECO:0000269 PubMed:8710906, ECO:0000269 PubMed:9328469, ECO:0000269 PubMed:9425228}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Melanoma-astrocytoma syndrome (MASTS) [MIM:155755]: Characterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma. {ECO:0000269 PubMed:11136714}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=The association between cutaneous and uveal melanomas in some families suggests that mutations in CDKN2A may account for a proportion of uveal melanomas. However, CDKN2A mutations are rarely found in uveal melanoma patients.

Additional Disease Information for CDKN2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CDKN2A: view

No data available for Genatlas for CDKN2A Gene

Publications for CDKN2A Gene

  1. Alterations of p16 and p14ARF genes and their 9p21 locus in oral squamous cell carcinoma. (PMID: 19101490) Ohta S … Kubota Y (Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics 2009) 3 22 44 58
  2. MTAP and CDKN2B genes are associated with myocardial infarction in Chinese Hans. (PMID: 19272367) Yang XC … Wang XF (Clinical biochemistry 2009) 3 22 44 58
  3. Aberrant DNA methylation of P16, MGMT, and hMLH1 genes in combination with MTHFR C677T genetic polymorphism in esophageal squamous cell carcinoma. (PMID: 18199718) Wang J … Xu B (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 22 44 58
  4. Association of interindividual differences in p14ARF promoter methylation with single nucleotide polymorphism in primary colorectal cancer. (PMID: 18327804) Kang MY … Kim DH (Cancer 2008) 3 22 44 58
  5. CDKN2A common variants and their association with melanoma risk: a population-based study. (PMID: 15705881) Debniak T … Lubinski J (Cancer research 2005) 3 22 44 58

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