CDKN2A - Gene info - The Human Protein Atlas

We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. Don't show this again.

CDKN2A

TISSUE

premium

SUBCELL

CELL LINE

CANCER

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 78.38)
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 VIEW

? »

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	Ensembl	UniProt	Protein class	Gene ontology	Length (aa)	Molecular mass (kDa)	Signal peptide (predicted)	Transmembrane regions (predicted)
CDKN2A-001	ENSP00000307101 ENST00000304494	P42771 Show all » « Hide P42771 [Direct mapping] Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3 K7PML8 [Target identity:100%; Query identity:100%] Cyclin-dependent kinase inhibitor 2A {ECO:0000313\|EMBL:AFN61600.1} Q9UPB7 [Target identity:23%; Query identity:100%] Cyclin-dependent kinase inhibitor 2A {ECO:0000313\|EMBL:AAD02319.1}	Show » « Hide 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 » « Hide 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]	156	16.5	No	0
CDKN2A-004	ENSP00000462950 ENST00000579755	Q8N726 Show all » « Hide Q8N726 [Direct mapping] Cyclin-dependent kinase inhibitor 2A, isoform 4 Q5ZEY9 [Target identity:45%; Query identity:100%] Cyclin-dependent kinase inhibitor 2A {ECO:0000313\|EMBL:CAH59950.1}	Show » « Hide 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 » « Hide GO:0000209 [protein polyubiquitination] 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: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: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:0043234 [protein complex] GO:0043517 [positive regulation of DNA damage response, signal transduction by p53 class mediator] 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: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:1902510 [regulation of apoptotic DNA fragmentation]	132	13.9	No	0
CDKN2A-005	ENSP00000464952 ENST00000494262	P42771 Show all » « Hide P42771 [Direct mapping] Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3	Show » « Hide 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 » « Hide 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]	105	11.2	Yes	0
CDKN2A-006	ENSP00000467857 ENST00000498628	P42771 Show all » « Hide P42771 [Direct mapping] Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3	Show » « Hide 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 » « Hide 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]	105	11.2	Yes	0
CDKN2A-008	ENSP00000466887 ENST00000479692	K7ENC6 Show all » « Hide K7ENC6 [Target identity:100%; Query identity:100%] Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3 {ECO:0000313\|Ensembl:ENSP00000466887}	Show » « Hide 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)		121	12.7	Yes	0
CDKN2A-009	ENSP00000418915 ENST00000498124	P42771 Show all » « Hide P42771 [Direct mapping] Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3 Q9UPB7 [Target identity:21%; Query identity:100%] Cyclin-dependent kinase inhibitor 2A {ECO:0000313\|EMBL:AAD02319.1}	Show » « Hide 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 » « Hide 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]	167	17.9	No	0
CDKN2A-010	ENSP00000468510 ENST00000497750	K7ES20 Show all » « Hide K7ES20 [Target identity:100%; Query identity:100%] Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3 {ECO:0000313\|Ensembl:ENSP00000468510}	Show » « Hide 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)		104	11.1	Yes	0
CDKN2A-013	ENSP00000432664 ENST00000530628	Q8N726 Show all » « Hide Q8N726 [Direct mapping] Cyclin-dependent kinase inhibitor 2A, isoform 4 Q5ZEY9 [Target identity:45%; Query identity:100%] Cyclin-dependent kinase inhibitor 2A {ECO:0000313\|EMBL:CAH59950.1}	Show » « Hide 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 » « Hide GO:0000209 [protein polyubiquitination] 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: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: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:0043234 [protein complex] GO:0043517 [positive regulation of DNA damage response, signal transduction by p53 class mediator] 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: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:1902510 [regulation of apoptotic DNA fragmentation]	132	13.9	No	0
CDKN2A-014	ENSP00000464202 ENST00000579122	J3QRG6 Show all » « Hide J3QRG6 [Target identity:100%; Query identity:100%] Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3 {ECO:0000313\|Ensembl:ENSP00000464202} Q9UPB7 [Target identity:26%; Query identity:100%] Cyclin-dependent kinase inhibitor 2A {ECO:0000313\|EMBL:AAD02319.1}	Show » « Hide 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)		138	15	No	0
CDKN2A-015	ENSP00000467390 ENST00000578845	P42771 Show all » « Hide P42771 [Direct mapping] Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3	Show » « Hide 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 » « Hide 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]	105	11.2	Yes	0
CDKN2A-201	ENSP00000355153 ENST00000361570	Q5ZEY9 Show all » « Hide Q5ZEY9 [Target identity:35%; Query identity:100%] Cyclin-dependent kinase inhibitor 2A {ECO:0000313\|EMBL:CAH59950.1}	Show » « Hide 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)		170	18.5	No	0

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