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
- 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
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
-
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]
-
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, Cutaneous Malignant 2 and Melanoma-Pancreatic Cancer Syndrome. Among its related pathways are Gene Expression and Endometrial cancer. 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.
Additional gene information for CDKN2A Gene
- HGNC(1787)
- Entrez Gene(1029)
- Ensembl(ENSG00000147889)
- OMIM(600160)
- UniProtKB(Q8N726)
- UniProtKB(P42771)
- Monarch Initiative
- Search for CDKN2A at DataMed
- Search for CDKN2A at HumanCyc
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
- 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:
-
- AP-1
- ATF-2
Regulatory Element Products
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)
- Size:
- 27,550 bases
- Orientation:
- Minus strand
Genomic View for CDKN2A Gene
Genes around CDKN2A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9p21.3 by Entrez Gene
- 9p21.3 by HGNC
- 9p21.3 by Ensembl
CDKN2A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
-
Protein details for CDKN2A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8N726-ARF_HUMAN
- Recommended name:
- Tumor suppressor ARF
- Protein Accession:
- Q8N726
- 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};
Protein Expression 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.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for CDKN2A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CDKN2A (p16INK4a / CDKN2A)
-
Custom Antibody ServicesOriGene Antibodies for CDKN2A
- TA301407
- TA302655
- TA306428
- TA309548
- TA325354
- TA326052
- TA326118
- TA326805
- TA336583
- TA336585
- TA336590
- TA336591
- TA347447
- TA348037
- TA351069
- TA353998
- TA500036
- CF500036
- TA590003
- TA801624
- CF801624
- TA801873
- CF801873
- TA801874
- CF801874
- TA802082
- CF802082
- TA802229
- CF802229
- TA802246
- CF802246
- TA802963
- CF802963
- TA803073
- CF803073
- TA803119
- CF803119
- TA803465
- CF803465
- TA805094
- CF805094
- TA805096
- CF805096
- TA805215
- CF805215
- TA805218
- CF805218
- TA805220
- CF805220
- TA805221
- CF805221
- TA805237
- CF805237
- TA805241
- CF805241
- TA805335
- CF805335
- TA805348
- CF805348
- TA805398
- CF805398
- TA805400
- CF805400
- TA805403
- CF805403
- TA805405
- CF805405
- TA805408
- CF805408
- TA805439
- CF805439
- TA805497
- CF805497
- TA805498
- CF805498
- TA805557
- CF805557
- TA809880
- CF809880
- TA809881
- CF809881
- TA809883
- CF809883
- TA809884
- CF809884
- TA809885
- CF809885
- TA809937
- CF809937
- TA500036S
- Novus Biologicals Antibodies for CDKN2A
- Invitrogen Antibodies for CDKN2A
- GeneTex CDKN2A Antibody for CDKN2A
-
Biorbyt antibodies for CDKN2A
- orb178504
- orb197810
- orb197882
- orb55867
- orb11200
- orb11201
- orb129709
- orb97580
- orb235087
- orb224525
- orb69069
- orb30913
- orb19161
- orb6567
- orb34477
- orb97579
- orb213717
- orb221119
- orb339011
- orb343961
- orb213718
- orb11200
- orb125555
- orb162228
- orb224526
- orb228123
- orb16132
- orb1910
- orb3940
- orb460776
- orb461208
- orb482719
- orb482828
- orb498990
- orb499095
- orb193358
- orb12463
-
Santa Cruz Biotechnology (SCBT) Antibodies for CDKN2A
- Sino Biological Antibodies for CDKN2A
Protein Products
-
OriGene Purified Proteins for CDKN2A
- Search Origene for MassSpec and Protein Over-expression Lysates for CDKN2A
- Origene Custom Protein Services for CDKN2A
- ProSpec Recombinant Proteins for CDKN2A
- GeneTex Proteins for CDKN2A
-
ProSci Proteins for CDKN2A
Assay Products
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
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CDKN2A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P42771- Family:
-
- Belongs to the CDKN2 cyclin-dependent kinase inhibitor family.
Function for CDKN2A Gene
Molecular function for CDKN2A Gene
- 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.
- 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)
Phenotypes From GWAS Catalog for CDKN2A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003723 | RNA binding | HDA | 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 | -- |
Phenotypes for CDKN2A Gene
- MGI mutant phenotypes for CDKN2A:
-
inferred from 19 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- pigmentation phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for CDKN2A:
-
- Decreased viability ratio
- Synthetic lethal with gemcitabine
- Dynamic nuclei (hole, folded or small irregular)
- Decreased viability after gemcitabine stimulation
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Apoptosis resistance
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased viability after Maraba virus infection
- Increased transferrin (TF) endocytosis
- Synthetic lethal with MLN4924 (a NAE inhibitor)
Animal Models for CDKN2A Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for CDKN2A
- Cyagen custom Knockout/knockin (KOKI) mouse models for CDKN2A
-
CRISPR Products
-
OriGene CRISPR knockouts for CDKN2A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CDKN2A
- genomics-online: gRNA clones - Search results for available CDKN2A gene related products
- Applied Biological Materials CRISPR for CDKN2A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CDKN2A
- GenScript: Design CRISPR guide RNA sequences for CDKN2A
miRNA for CDKN2A Gene
- miRTarBase miRNAs that target CDKN2A
-
- hsa-mir-24-3p (MIRT004362)
- hsa-let-7g-5p (MIRT004489)
- hsa-mir-125b-5p (MIRT004709)
- hsa-mir-492 (MIRT006071)
- hsa-mir-10b-5p (MIRT006368)
- hsa-mir-155-5p (MIRT020886)
- hsa-mir-124-3p (MIRT022931)
- hsa-mir-215-5p (MIRT024932)
- hsa-mir-34a-5p (MIRT025556)
- hsa-mir-192-5p (MIRT026702)
- hsa-mir-16-5p (MIRT031803)
- hsa-mir-455-3p (MIRT037910)
- hsa-mir-423-5p (MIRT038036)
- hsa-mir-296-3p (MIRT038476)
- hsa-mir-615-3p (MIRT039976)
- hsa-mir-320a (MIRT044426)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CDKN2A
- Browse OriGene Inhibitory RNA Products For CDKN2A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDKN2A
- genomics-online: shRNA clones - Search results for available CDKN2A gene related products
Clone Products
-
OriGene ORF clones in human for CDKN2A
- RC220937L1V
- RC220937L2V
- RC231009L1V
- RC231009L2V
- RC211784L1V
- RC211784L2V
- RC220813L1V
- RC220813L2V
- RC220937
- RC220937L1
- RC220937L2
- RC400244
- RC400245
- RC400246
- RC400247
- RC400248
- RC400249
- RC400250
- RC400251
- RC400252
- RC400253
- RC400254
- RC400255
- RC400256
- RC400257
- RC400258
- RC400259
- RC400260
- RC400261
- RC400262
- RC400263
- RC400264
- RC400265
- RC400266
- RC400267
- RG220937
- RC231009
- RC231009L1
- RC231009L2
- RG231009
- RC211784
- RC211784L1
- RC211784L2
- RG211784
- RC220813
- RC220813L1
- RC220813L2
- RG220813
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CDKN2A
- VectorBuilder custom plasmid, inducible vectors for CDKN2A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CDKN2A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CDKN2A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CDKN2A
- genomics-online: cdna clones - Search results for available CDKN2A gene related products
- orf clones - Search results for available CDKN2A gene related products
- Applied Biological Materials Clones for CDKN2A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CDKN2A
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.
| 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 |
- Nucleoli (4)
| 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 | -- |
Pathways & Interactions for CDKN2A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glioma |
.52
.47
|
|
| 2 | Cyclins and Cell Cycle Regulation |
.31
|
|
| 3 | Cellular Senescence (REACTOME) | ||
| 4 | SUMOylation |
.95
|
|
| 5 | Bladder cancer |
.66
|
.66
|
Pathways by source for CDKN2A Gene
1 GeneTex pathway for CDKN2A Gene
10 BioSystems pathways for CDKN2A Gene
22 Reactome pathways for CDKN2A Gene
17 KEGG pathways for CDKN2A Gene
2 GeneGo (Thomson Reuters) pathways for CDKN2A Gene
10 Qiagen pathways for CDKN2A Gene
1 Cell Signaling Technology pathway for CDKN2A Gene
Interacting Proteins for CDKN2A Gene
Selected Interacting proteins:
P42771-CDN2A_HUMAN
Q8N726-ARF_HUMAN
for CDKN2A Gene via
IID
UniProtKB
MINT
GPS-Prot Interaction Network for CDKN2A
SIGNOR curated interactions 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 | -- |
Drugs & Compounds for CDKN2A Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for CDKN2A Gene
mRNA/cDNA for CDKN2A Gene
- (9) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (264) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000304494 1218 bps (uc003zpk.4)
- ENST00000380150 493 bps (uc064ski.1)
- ENST00000380151 794 bps (uc003zpj.4)
- ENST00000470819 856 bps (uc064skk.1)
- ENST00000479692 544 bps (uc064skg.1)
Unigene Clusters for CDKN2A Gene
CRISPR Products
-
OriGene CRISPR knockouts for CDKN2A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CDKN2A
- genomics-online: gRNA clones - Search results for available CDKN2A gene related products
- Applied Biological Materials CRISPR for CDKN2A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CDKN2A
- GenScript: Design CRISPR guide RNA sequences for CDKN2A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CDKN2A
- Browse OriGene Inhibitory RNA Products For CDKN2A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDKN2A
- genomics-online: shRNA clones - Search results for available CDKN2A gene related products
Clone Products
-
OriGene ORF clones in human for CDKN2A
- RC220937L1V
- RC220937L2V
- RC231009L1V
- RC231009L2V
- RC211784L1V
- RC211784L2V
- RC220813L1V
- RC220813L2V
- RC220937
- RC220937L1
- RC220937L2
- RC400244
- RC400245
- RC400246
- RC400247
- RC400248
- RC400249
- RC400250
- RC400251
- RC400252
- RC400253
- RC400254
- RC400255
- RC400256
- RC400257
- RC400258
- RC400259
- RC400260
- RC400261
- RC400262
- RC400263
- RC400264
- RC400265
- RC400266
- RC400267
- RG220937
- RC231009
- RC231009L1
- RC231009L2
- RG231009
- RC211784
- RC211784L1
- RC211784L2
- RG211784
- RC220813
- RC220813L1
- RC220813L2
- RG220813
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CDKN2A
- VectorBuilder custom plasmid, inducible vectors for CDKN2A
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CDKN2A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CDKN2A
- genomics-online: cdna clones - Search results for available CDKN2A gene related products
- orf clones - Search results for available CDKN2A gene related products
- Applied Biological Materials Clones for CDKN2A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - |
Expression for CDKN2A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Epidermis (Integumentary System)
- Spinous Keratinocytes Stratified Epidermis
-
Epithelial Cells
- Spinous Keratinocytes Stratified Epidermis
- Mesenchymal Stem Cells (Uncategorized)
- Umbilical Cord (Extraembryonic Tissues)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for CDKN2A Gene
This gene is overexpressed in Pituitary (x10.1).
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:
CDKN2ASOURCE GeneReport for Unigene cluster for CDKN2A Gene:
Hs.512599mRNA 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(3.1)
- 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
Regions:
Head and neck:
- brain
- cerebellum
- eye
- head
- meninges
- mouth
- pharynx
Abdomen:
- pancreas
General:
- skin
Primer Products
-
OriGene qPCR primer pairs and template standards for CDKN2A
-
OriGene qPCR primer pairs for CDKN2A
- genomics-online: primer clones - Search results for available CDKN2A gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CDKN2A 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CDKN2A 33 |
|
||
| cow (Bos Taurus) |
Mammalia | CDKN2A 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cdkn2a 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Cdkn2a 16 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
ManyToMany | |
| CDKN2A 34 |
|
ManyToMany | |||
| chicken (Gallus gallus) |
Aves | CDKN2B 34 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cdkn2b 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100329528 33 |
|
||
| BX323448.2 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CDKN2A: view image
Paralogs for CDKN2A Gene
(18) SIMAP similar genes for CDKN2A Gene using alignment to 14 proteins:
- CD2A1_HUMAN
- CD2A2_HUMAN
- A7LNE7_HUMAN
- D1LYX3_HUMAN
- G3XAG3_HUMAN
- J3QRG6_HUMAN
- K7ENC6_HUMAN
- K7ES20_HUMAN
- K7PML8_HUMAN
- L8E941_HUMAN
- Q208B5_HUMAN
- Q2MJK0_HUMAN
- Q5ZEY9_HUMAN
- Q9UPB7_HUMAN
Variants 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 | |
| rs1025333664 | uncertain-significance, Hereditary cancer-predisposing syndrome | 21,974,672(-) | A/G | coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, synonymous_variant | |
| rs1034265990 | uncertain-significance, Hereditary cancer-predisposing syndrome | 21,971,123(-) | G/A/T | 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1425040 | CNV | deletion | 17803354 |
| esv2764150 | CNV | gain+loss | 21179565 |
| nsv1018514 | CNV | gain | 25217958 |
| nsv8426 | CNV | loss | 18304495 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDKN2A Gene
Disorders for CDKN2A Gene
(201) MalaCards diseases for CDKN2A Gene - From: HGMD, LncRNADisease, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| melanoma, cutaneous malignant 2 |
|
|
| melanoma-pancreatic cancer syndrome |
|
|
| melanoma-astrocytoma syndrome |
|
|
| dysplastic nevus syndrome |
|
|
| melanoma, cutaneous malignant 1 |
|
Search CDKN2A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ARF_HUMAN- 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.
- 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.
- 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-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.
Additional Disease Information for CDKN2A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CDKN2A Gene
Publications for CDKN2A Gene
- 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
- 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
- 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
- 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
- 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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- Mammalian expression: PiggyBac
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Sources for CDKN2A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
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