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CDKN2A

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GENERAL INFORMATION

Gene name

 CDKN2A

Gene description

 Cyclin-dependent kinase inhibitor 2A

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Secreted

Number of transcripts

 11
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

 Localized to the nucleoli.

RNA cell category

 Mixed

Protein evidence

 Evidence at protein level

Main location

 Localized to the Nucleoli (validated)

Single-cell variation

 Single-cell variation in protein expression observed.

DATA RELIABILITY

Reliability score

 Validated based on 1 antibody.
HPA047838
SHOW MORE

ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Mixed
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Localized to the nucleoli.

Main location

 Nucleoli (validated)

 

 

 
Toggle channels
Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA047838 HEK 293 Nucleoli Intensity
HPA047838 PC-3 Nucleoli Intensity
HPA047838 U-2 OS No staining    

GENE INFORMATION

Gene name

 CDKN2A (HGNC Symbol)

Synonyms

 ARF, CDK4I, CDKN2, CMM2, INK4, INK4a, MLM, MTS1, p14, p14ARF, p16, p16INK4a, p19, p19Arf

Description

 Cyclin-dependent kinase inhibitor 2A (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 9

Cytoband

 p21.3

Chromosome location (bp)

 21967753 - 21995301

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000147889 (version 83.38)

Entrez gene

 1029

UniProt

 P42771 (UniProt - Evidence at protein level), Q8N726 (UniProt - Evidence at protein level)

neXtProt

 NX_P42771, NX_Q8N726

Antibodypedia

 CDKN2A antibodies

PROTEIN BROWSER
«
CDKN2A-001
CDKN2A-004
CDKN2A-005
CDKN2A-006
CDKN2A-008
CDKN2A-009
CDKN2A-010
CDKN2A-013
CDKN2A-014
CDKN2A-015
CDKN2A-201
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CDKN2A-001
ENSP00000307101
ENST00000304494
P42771 [Direct mapping]
Cyclin-dependent kinase inhibitor 2A
K7PML8 [Target identity:100%; Query identity:100%]
Cyclin-dependent kinase inhibitor 2A
Show all
Predicted intracellular proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000082 [G1/S transition of mitotic cell cycle]
GO:0000278 [mitotic cell cycle]
GO:0001953 [negative regulation of cell-matrix adhesion]
GO:0004861 [cyclin-dependent protein serine/threonine kinase inhibitor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007050 [cell cycle arrest]
GO:0007265 [Ras protein signal transduction]
GO:0008285 [negative regulation of cell proliferation]
GO:0019901 [protein kinase binding]
GO:0030308 [negative regulation of cell growth]
GO:0032088 [negative regulation of NF-kappaB transcription factor activity]
GO:0034393 [positive regulation of smooth muscle cell apoptotic process]
GO:0035985 [senescence-associated heterochromatin focus]
GO:0035986 [senescence-associated heterochromatin focus assembly]
GO:0042326 [negative regulation of phosphorylation]
GO:0044822 [poly(A) RNA binding]
GO:0045736 [negative regulation of cyclin-dependent protein serine/threonine kinase activity]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0051059 [NF-kappaB binding]
GO:0090398 [cellular senescence]
GO:0090399 [replicative senescence]
GO:2000111 [positive regulation of macrophage apoptotic process]
GO:2000774 [positive regulation of cellular senescence]
Show all
 156 aa
16.5 kDa 		No 0
CDKN2A-004
ENSP00000462950
ENST00000579755
Q8N726 [Direct mapping]
Tumor suppressor ARF
Show all
   Phobius predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000209 [protein polyubiquitination]
GO:0000422 [mitophagy]
GO:0002039 [p53 binding]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005739 [mitochondrion]
GO:0006351 [transcription, DNA-templated]
GO:0006364 [rRNA processing]
GO:0006469 [negative regulation of protein kinase activity]
GO:0006915 [apoptotic process]
GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0007050 [cell cycle arrest]
GO:0008134 [transcription factor binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0008637 [apoptotic mitochondrial changes]
GO:0010389 [regulation of G2/M transition of mitotic cell cycle]
GO:0016604 [nuclear body]
GO:0016925 [protein sumoylation]
GO:0030889 [negative regulation of B cell proliferation]
GO:0031647 [regulation of protein stability]
GO:0031648 [protein destabilization]
GO:0033088 [negative regulation of immature T cell proliferation in thymus]
GO:0033235 [positive regulation of protein sumoylation]
GO:0043065 [positive regulation of apoptotic process]
GO:0043234 [protein complex]
GO:0043517 [positive regulation of DNA damage response, signal transduction by p53 class mediator]
GO:0043687 [post-translational protein modification]
GO:0044267 [cellular protein metabolic process]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046825 [regulation of protein export from nucleus]
GO:0048103 [somatic stem cell division]
GO:0050821 [protein stabilization]
GO:0051444 [negative regulation of ubiquitin-protein transferase activity]
GO:0051882 [mitochondrial depolarization]
GO:0055105 [ubiquitin-protein transferase inhibitor activity]
GO:0070534 [protein K63-linked ubiquitination]
GO:0071158 [positive regulation of cell cycle arrest]
GO:0090398 [cellular senescence]
GO:0097371 [MDM2/MDM4 family protein binding]
GO:1900182 [positive regulation of protein localization to nucleus]
GO:1901798 [positive regulation of signal transduction by p53 class mediator]
GO:1902510 [regulation of apoptotic DNA fragmentation]
GO:1903051 [negative regulation of proteolysis involved in cellular protein catabolic process]
GO:1903214 [regulation of protein targeting to mitochondrion]
GO:2000059 [negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
Show all
 132 aa
13.9 kDa 		No 0
CDKN2A-005
ENSP00000464952
ENST00000494262
P42771 [Direct mapping]
Cyclin-dependent kinase inhibitor 2A
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000082 [G1/S transition of mitotic cell cycle]
GO:0000278 [mitotic cell cycle]
GO:0001953 [negative regulation of cell-matrix adhesion]
GO:0004861 [cyclin-dependent protein serine/threonine kinase inhibitor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007050 [cell cycle arrest]
GO:0007265 [Ras protein signal transduction]
GO:0008285 [negative regulation of cell proliferation]
GO:0019901 [protein kinase binding]
GO:0030308 [negative regulation of cell growth]
GO:0032088 [negative regulation of NF-kappaB transcription factor activity]
GO:0034393 [positive regulation of smooth muscle cell apoptotic process]
GO:0035985 [senescence-associated heterochromatin focus]
GO:0035986 [senescence-associated heterochromatin focus assembly]
GO:0042326 [negative regulation of phosphorylation]
GO:0044822 [poly(A) RNA binding]
GO:0045736 [negative regulation of cyclin-dependent protein serine/threonine kinase activity]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0051059 [NF-kappaB binding]
GO:0090398 [cellular senescence]
GO:0090399 [replicative senescence]
GO:2000111 [positive regulation of macrophage apoptotic process]
GO:2000774 [positive regulation of cellular senescence]
Show all
 105 aa
11.2 kDa 		Yes 0
CDKN2A-006
ENSP00000467857
ENST00000498628
P42771 [Direct mapping]
Cyclin-dependent kinase inhibitor 2A
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000082 [G1/S transition of mitotic cell cycle]
GO:0000278 [mitotic cell cycle]
GO:0001953 [negative regulation of cell-matrix adhesion]
GO:0004861 [cyclin-dependent protein serine/threonine kinase inhibitor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007050 [cell cycle arrest]
GO:0007265 [Ras protein signal transduction]
GO:0008285 [negative regulation of cell proliferation]
GO:0019901 [protein kinase binding]
GO:0030308 [negative regulation of cell growth]
GO:0032088 [negative regulation of NF-kappaB transcription factor activity]
GO:0034393 [positive regulation of smooth muscle cell apoptotic process]
GO:0035985 [senescence-associated heterochromatin focus]
GO:0035986 [senescence-associated heterochromatin focus assembly]
GO:0042326 [negative regulation of phosphorylation]
GO:0044822 [poly(A) RNA binding]
GO:0045736 [negative regulation of cyclin-dependent protein serine/threonine kinase activity]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0051059 [NF-kappaB binding]
GO:0090398 [cellular senescence]
GO:0090399 [replicative senescence]
GO:2000111 [positive regulation of macrophage apoptotic process]
GO:2000774 [positive regulation of cellular senescence]
Show all
 105 aa
11.2 kDa 		Yes 0
CDKN2A-008
ENSP00000466887
ENST00000479692
K7ENC6 [Direct mapping]
Cyclin-dependent kinase inhibitor 2A
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
 121 aa
12.7 kDa 		Yes 0
CDKN2A-009
ENSP00000418915
ENST00000498124
P42771 [Direct mapping]
Cyclin-dependent kinase inhibitor 2A
Show all
Predicted intracellular proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000082 [G1/S transition of mitotic cell cycle]
GO:0000278 [mitotic cell cycle]
GO:0001953 [negative regulation of cell-matrix adhesion]
GO:0004861 [cyclin-dependent protein serine/threonine kinase inhibitor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007050 [cell cycle arrest]
GO:0007265 [Ras protein signal transduction]
GO:0008285 [negative regulation of cell proliferation]
GO:0019901 [protein kinase binding]
GO:0030308 [negative regulation of cell growth]
GO:0032088 [negative regulation of NF-kappaB transcription factor activity]
GO:0034393 [positive regulation of smooth muscle cell apoptotic process]
GO:0035985 [senescence-associated heterochromatin focus]
GO:0035986 [senescence-associated heterochromatin focus assembly]
GO:0042326 [negative regulation of phosphorylation]
GO:0044822 [poly(A) RNA binding]
GO:0045736 [negative regulation of cyclin-dependent protein serine/threonine kinase activity]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0051059 [NF-kappaB binding]
GO:0090398 [cellular senescence]
GO:0090399 [replicative senescence]
GO:2000111 [positive regulation of macrophage apoptotic process]
GO:2000774 [positive regulation of cellular senescence]
Show all
 167 aa
17.9 kDa 		No 0
CDKN2A-010
ENSP00000468510
ENST00000497750
K7ES20 [Direct mapping]
Cyclin-dependent kinase inhibitor 2A
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
 104 aa
11.1 kDa 		Yes 0
CDKN2A-013
ENSP00000432664
ENST00000530628
Q8N726 [Direct mapping]
Tumor suppressor ARF
Show all
   Phobius predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000209 [protein polyubiquitination]
GO:0000422 [mitophagy]
GO:0002039 [p53 binding]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005739 [mitochondrion]
GO:0006351 [transcription, DNA-templated]
GO:0006364 [rRNA processing]
GO:0006469 [negative regulation of protein kinase activity]
GO:0006915 [apoptotic process]
GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process]
GO:0007050 [cell cycle arrest]
GO:0008134 [transcription factor binding]
GO:0008285 [negative regulation of cell proliferation]
GO:0008637 [apoptotic mitochondrial changes]
GO:0010389 [regulation of G2/M transition of mitotic cell cycle]
GO:0016604 [nuclear body]
GO:0016925 [protein sumoylation]
GO:0030889 [negative regulation of B cell proliferation]
GO:0031647 [regulation of protein stability]
GO:0031648 [protein destabilization]
GO:0033088 [negative regulation of immature T cell proliferation in thymus]
GO:0033235 [positive regulation of protein sumoylation]
GO:0043065 [positive regulation of apoptotic process]
GO:0043234 [protein complex]
GO:0043517 [positive regulation of DNA damage response, signal transduction by p53 class mediator]
GO:0043687 [post-translational protein modification]
GO:0044267 [cellular protein metabolic process]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046825 [regulation of protein export from nucleus]
GO:0048103 [somatic stem cell division]
GO:0050821 [protein stabilization]
GO:0051444 [negative regulation of ubiquitin-protein transferase activity]
GO:0051882 [mitochondrial depolarization]
GO:0055105 [ubiquitin-protein transferase inhibitor activity]
GO:0070534 [protein K63-linked ubiquitination]
GO:0071158 [positive regulation of cell cycle arrest]
GO:0090398 [cellular senescence]
GO:0097371 [MDM2/MDM4 family protein binding]
GO:1900182 [positive regulation of protein localization to nucleus]
GO:1901798 [positive regulation of signal transduction by p53 class mediator]
GO:1902510 [regulation of apoptotic DNA fragmentation]
GO:1903051 [negative regulation of proteolysis involved in cellular protein catabolic process]
GO:1903214 [regulation of protein targeting to mitochondrion]
GO:2000059 [negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
Show all
 132 aa
13.9 kDa 		No 0
CDKN2A-014
ENSP00000464202
ENST00000579122
J3QRG6 [Direct mapping]
Cyclin-dependent kinase inhibitor 2A
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
 138 aa
15 kDa 		No 0
CDKN2A-015
ENSP00000467390
ENST00000578845
P42771 [Direct mapping]
Cyclin-dependent kinase inhibitor 2A
Show all
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000082 [G1/S transition of mitotic cell cycle]
GO:0000278 [mitotic cell cycle]
GO:0001953 [negative regulation of cell-matrix adhesion]
GO:0004861 [cyclin-dependent protein serine/threonine kinase inhibitor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0007050 [cell cycle arrest]
GO:0007265 [Ras protein signal transduction]
GO:0008285 [negative regulation of cell proliferation]
GO:0019901 [protein kinase binding]
GO:0030308 [negative regulation of cell growth]
GO:0032088 [negative regulation of NF-kappaB transcription factor activity]
GO:0034393 [positive regulation of smooth muscle cell apoptotic process]
GO:0035985 [senescence-associated heterochromatin focus]
GO:0035986 [senescence-associated heterochromatin focus assembly]
GO:0042326 [negative regulation of phosphorylation]
GO:0044822 [poly(A) RNA binding]
GO:0045736 [negative regulation of cyclin-dependent protein serine/threonine kinase activity]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0051059 [NF-kappaB binding]
GO:0090398 [cellular senescence]
GO:0090399 [replicative senescence]
GO:2000111 [positive regulation of macrophage apoptotic process]
GO:2000774 [positive regulation of cellular senescence]
Show all
 105 aa
11.2 kDa 		Yes 0
CDKN2A-201
ENSP00000355153
ENST00000361570
A0A0A0MRI0 [Direct mapping]
Cyclin-dependent kinase inhibitor 2A
Show all
   Phobius predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006915 [apoptotic process]
GO:0007050 [cell cycle arrest]
GO:0008285 [negative regulation of cell proliferation]
Show all
 170 aa
18.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.