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CDKN2A cyclin-dependent kinase inhibitor 2A [ Homo sapiens (human) ]

Gene ID: 1029, updated on 14-May-2013

Summary

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Official Symbol: CDKN2Aprovided by HGNC
Official Full Name: cyclin-dependent kinase inhibitor 2Aprovided by HGNC
Primary source: HGNC:1787
See related: Ensembl:ENSG00000147889; HPRD:02542; MIM:600160; Vega:OTTHUMG00000019686
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARF; MLM; P14; P16; P19; CMM2; INK4; MTS1; TP16; CDK4I; CDKN2; INK4A; MTS-1; P14ARF; P19ARF; P16INK4; P16INK4A; P16-INK4A
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]

Genomic context

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Location :: 9p21

Sequence :: Chromosome: 9; NC_000009.11 (21967751..21994490, complement)

See CDKN2A in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Methylation of CDKN2A is associated with recurrence following adjuvant FOLFOX in Stages II/III colorectal cancer.
Title: Methylation and microsatellite status and recurrence following adjuvant FOLFOX in colorectal cancer.
Data suggest that the p16 gene, located in the short arms of chromosome 9, may play a role in ovarian carcinogenesis.
Title: Detection of numerical abnormalities of chromosome 9 and p16/CDKN2A gene alterations in ovarian cancer with fish analysis.
p16 expression should not be used as a surrogate marker for evidence of HVP infection in either squamous cell carcinoma of the urinary bladder or urothelial carcinoma with squamous differentiation.
Title: p16 expression is not associated with human papillomavirus in urinary bladder squamous cell carcinoma.
CDKN2A (p16) promoter hypermethylation influences the outcome in young lung cancer patients.
Title: CDKN2A (p16) promoter hypermethylation influences the outcome in young lung cancer patients.
Specific arginine residues of p16 protein are methylated by PRMT6 which may be critical for the activity of p16.
Title: Suppression of PRMT6-mediated arginine methylation of p16 protein potentiates its ability to arrest A549 cell proliferation.
Complex regulatory variation affecting ANRIL and CDKN2B gene expression but not CDKN2A may contribute to increased risk for clinically apparent and subclinical coronary artery disease and aortic disease.
Title: Resequencing and clinical associations of the 9p21.3 region: a comprehensive investigation in the Framingham heart study.
Data show that p16(INK4a) is a reliable biomarker of T-cell aging in HIV+ patients with suppressed viral loads and suggest that poor CD4 cell recovery on cART may be associated with increased T-cell expression of p16(INK4a.
Title: Expression of p16(INK4a) as a biomarker of T-cell aging in HIV-infected patients prior to and during antiretroviral therapy.
A direct link between p16(INK4a) repression and defective EC function was confirmed.
Title: Endothelial cell dysfunction and cytoskeletal changes associated with repression of p16(INK4a) during immortalization.
Although germ-line SNPs in ARID5B, CEBPE, IKZF1 and CDKN2A are associated with the incidence of ALL in children, authors found no significant association between adult ALL cases and controls.
Title: Genetic polymorphisms in ARID5B, CEBPE, IKZF1 and CDKN2A in relation with risk of acute lymphoblastic leukaemia in adults: a Group for Research on Adult Acute Lymphoblastic Leukaemia (GRAALL) study.
CHMP1A-mutant cells show impaired proliferation, with increased expression of INK4A, a negative regulator of stem cell proliferation.
Title: CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.

Submit: New GeneRIF Correction See all (1170)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Melanoma, cutaneous malignant 2

MIM: 155601

Genetic Testing Registry

Melanoma-pancreatic cancer syndrome

MIM: 606719

Genetic Testing Registry

NHGRI GWAS Catalog

A common variant on chromosome 9p21 affects the risk of myocardial infarction.

A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.

Chromosome 7p11.2 (EGFR) variation influences glioma risk.

Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Nef, p27	nef	HIV-1 Nef is identified to have a physical interaction with cyclin-dependent kinase inhibitor 2A (CDKN2A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed
Tat, p14	tat	p14(ARF) inhibits transcription activation of the HIV-1 LTR by Tat protein; the ARF-mediated inhibition of the HIV-1 LTR occurs by promoting Tat degradation via an ubiquitin-independent pathway	PubMed
pol	gag-pol	RT activity of latently HIV-1-infected cells decreases in the presence of exogenous p16INK4A	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
AAP35666.1	NP_113584.3	HUWE1	BIND	PubMed	ARF interacts with ARF-BP1.
AAR05391.1	NP_000066.1	CDK4	BIND	PubMed	p16 interacts with cdk4.
AAR05391.1	NP_001250.1	CDK6	BIND	PubMed	p16 interacts with cdk6.
NC_000009.9	NP_006302.2	NCOR1	BIND	PubMed	NCOR1 (N-CoR) interacts with p-p14(ARF) (p14(ARF) promoter).
NC_000009.9	NP_006303.2	NCOR2	BIND	PubMed	NCOR2 (SMRT) interacts with p-p14(ARF) (p14(ARF) promoter).
NP_000068.1	NP_000066.1	CDK4	BIND	PubMed	p16 interacts with cdk4. This interaction was modeled on a demonstrated interaction between human p16 and cdk4 from an unspecified species.
NP_000068.1	NP_000066.1	CDK4	BIND	PubMed	p16 interacts with CDK4. This interaction was modeled on a demonstrated interaction between human p16 and CDK4 from an unspecified species.
NP_000068.1	NP_000066.1	CDK4	BIND	PubMed	CDKN2A interacts with CDK4
NP_000068.1	NP_001250.1	CDK6	BIND	PubMed	p16 interacts with cdk6. This interaction was modeled on a demonstrated interaction between human p16 and cdk6 from an unspecified species.
NP_000068.1	NP_001250.1	CDK6	BIND	PubMed	p16 interacts with CDK6. This interaction was modeled on a demonstrated interaction between human p16 and CDK6 from an unspecified species.
NP_000068.1	NP_001250.1	CDK6	BIND	PubMed	CDKN2A interacts with CDK6
NP_000068.1	NP_620448.1	MAPK10	BIND	PubMed	CDKN2A (p16INK4a) interacts with MAPK10 (JNK3)
NP_000068.1	NP_620637.1	MAPK8	BIND	PubMed	CDKN2A (p16INK4a) interacts with MAPK8 (JNK1)
NP_478102.1	NP_001521.1	HIF1A	BIND	PubMed	p14ARF interacts with HIF-1alpha.
NP_478102.1	NP_002383.1	MDM2	BIND	PubMed	Mdm2 interacts with p14ARF.
NP_478102.1	NP_002383.1	MDM2	BIND	PubMed	p14 interacts with MDM2.
NP_478102.1	NP_002383.1	MDM2	BIND	PubMed	MDM2 interacts with p14ARF
NP_478102.1		MDM2	BIND	PubMed	p14ARF interacts with an unspecified isoform of Mdm2.
NP_478102.1	NP_002458.1	MYC	BIND	PubMed	p14ARF interacts with c-Myc.
NP_478102.1	NP_115984.1	PPP1R9B	BIND	PubMed	SPINO interacts with p14ARF.
NP_478102.1	NP_002795.2	PSMC3	BIND	PubMed	p14ARF interacts with TBP-1.
NP_478102.1	NP_000544.1	WRN	BIND	PubMed	p14 interacts with WRN.
NP_478102.1	NP_003394.1	YY1	BIND	PubMed	YY1 interacts with p14ARF.
Q8N726	Q09666	AHNAK	HPRD	PubMed
Q8N726	Q8N187	ALS2CR8	HPRD	PubMed
Q8N726	Q6UB98	ANKRD12	HPRD	PubMed
Q8N726	P51959	CCNG1	HPRD	PubMed
Q8N726	O75419	CDC45	HPRD	PubMed
Q8N726	Q99459	CDC5L	HPRD	PubMed
Q8N726	Q99741	CDC6	HPRD	PubMed
Q8N726	O00311	CDC7	HPRD	PubMed
Q8N726	P11802	CDK4	HPRD	PubMed
Q8N726	Q00534	CDK6	HPRD	PubMed
Q8N726	Q8N726	CDKN2A	HPRD	PubMed
Q8N726	Collaborates/cooperates with ARF protein	CDKN2AIP	HPRD	PubMed
Q8N726	P42773	CDKN2C	HPRD	PubMed
Q8N726	Q01094	E2F1	HPRD	PubMed
Q8N726	E4F transcription factor 1	E4F1	HPRD	PubMed
Q8N726	P18146	EGR1	HPRD	PubMed
Q8N726	O75496	GMNN	HPRD	PubMed
Q8N726	P15170	GSPT1	HPRD	PubMed
Q8N726	Q16665	HIF1A	HPRD	PubMed
Q8N726	P08238	HSP90AB1	HPRD	PubMed
Q8N726	Q7Z6Z7	HUWE1	HPRD	PubMed
Q8N726	KIAA1984	KIAA1984	HPRD	PubMed
Q8N726	Q7L590	MCM10	HPRD	PubMed
Q8N726	P49736	MCM2	HPRD	PubMed
Q8N726	P33992	MCM5	HPRD	PubMed
Q8N726	Q00987	MDM2	HPRD	PubMed
Q8N726	P01106	MYC	HPRD	PubMed
Q8N726	P19338	NCL	HPRD	PubMed
Q8N726	O43929	ORC4	HPRD	PubMed
Q8N726	P40855	PEX19	HPRD	PubMed
Q8N726	Q96SB3	PPP1R9B	HPRD	PubMed
Q8N726	P17980	PSMC3	HPRD	PubMed
Q8N726	P62081	RPS7	HPRD	PubMed
Q8N726	Q9UHV2	SERTAD1	HPRD	PubMed
Q8N726	P02730	SLC4A1	HPRD	PubMed
Q8N726	Q3YBR2	TBRG1	HPRD	PubMed
Q8N726	P60174	TPI1	HPRD	PubMed
Q8N726	P49459	UBE2A	HPRD	PubMed
Q8N726	Q14191	WRN	HPRD	PubMed
Q8N726	Q96JP5	ZFP91	HPRD	PubMed
Q8N726	Q86WZ6	ZNF227	HPRD	PubMed
Q8N726	Q86VK4	ZNF410	HPRD	PubMed
BioGRID:107463	BioGRID:106563	ACLY	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:106573	ACTA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:106575	ACTB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:131362	ACTBL2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:106586	ACTG1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:106596	ACTN4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:117174	ARFIP2	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107463	BioGRID:107027	ATR	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:112666	AURKA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:107140	BRCA1	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:107463	BioGRID:120947	BRK1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:198327	Bcl6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:107067	CCND1	BioGRID	PubMed	Co-fractionation; Reconstituted Complex
BioGRID:107463	BioGRID:107334	CCND2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107463	BioGRID:107340	CCNG1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107463	BioGRID:113915	CDC45	BioGRID	PubMed	Reconstituted Complex
BioGRID:107463	BioGRID:107424	CDC5L	BioGRID	PubMed	Reconstituted Complex
BioGRID:107463	BioGRID:107426	CDC6	BioGRID	PubMed	Reconstituted Complex
BioGRID:107463	BioGRID:113914	CDC7	BioGRID	PubMed	Reconstituted Complex
BioGRID:107463	BioGRID:107454	CDK4	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Protein-peptide; Reconstituted Complex; Two-hybrid
BioGRID:107463	BioGRID:123213	CDK5RAP3	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107463	BioGRID:107456	CDK6	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Co-crystal Structure; Protein-peptide; Reconstituted Complex
BioGRID:107463	BioGRID:120743	CDKN2AIP	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107463	BioGRID:127317	COMMD1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107463	BioGRID:116183	COPS5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:122591	CRELD2	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107463	BioGRID:107860	CSTF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:107870	CTBP2	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107463	BioGRID:114031	CUL2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:107985	DAXX	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107463	BioGRID:115777	DEAF1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
	NP_005216.1	E2F1	BIND	PubMed	p14ARF interacts with E2F-1.
BioGRID:107463	BioGRID:108201	E2F1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107463	BioGRID:108209	E4F1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107463	BioGRID:971788	EBNA-LP	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107463	BioGRID:108258	EEF2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:108278	EGR1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107463	BioGRID:114210	EIF3A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:108356	EPHA3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:108576	FKBP2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:108621	FN1	BioGRID	PubMed	Two-hybrid
BioGRID:107463	BioGRID:108868	GAPDH	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:117540	GGA1	BioGRID	PubMed	Two-hybrid
BioGRID:107463	BioGRID:116775	GGA3	BioGRID	PubMed	FRET
BioGRID:107463	BioGRID:119246	GMNN	BioGRID	PubMed	Reconstituted Complex
BioGRID:107463	BioGRID:109315	HDAC1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107463	BioGRID:109338	HIF1A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:126106	HIST3H2BB	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:107463	BioGRID:109422	HNRNPA2B1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:109424	HNRNPC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:109433	HNRNPU	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107463	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:109558	HSP90AB1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:109540	HSPA4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:109544	HSPA8	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:109545	HSPA9	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:115385	HUWE1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:107463	BioGRID:109767	IKBKB	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:109833	ING1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:119331	ING4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:115779	KAT5	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107463	BioGRID:115114	KIAA0101	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:114201	LAMTOR3	BioGRID	PubMed	Co-crystal Structure
BioGRID:107463	BioGRID:111588	MAPK10	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:107463	BioGRID:111585	MAPK8	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107463	BioGRID:120654	MCM10	BioGRID	PubMed	Reconstituted Complex
BioGRID:107463	BioGRID:110339	MCM2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107463	BioGRID:110342	MCM5	BioGRID	PubMed	Reconstituted Complex
BioGRID:107463	BioGRID:110343	MCM6	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107463	BioGRID:110358	MDM2	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Protein-peptide; Reconstituted Complex; Two-hybrid
BioGRID:107463	BioGRID:110359	MDM4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:116577	MMRN1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:110642	MTR	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:110694	MYC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:110698	MYCN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:115871	MYL12A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:119679	NAA38	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:116003	NCKAP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:110771	NCL	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:114561	NMI	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107463	BioGRID:110929	NPM1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex
BioGRID:107463	BioGRID:111042	ORC4	BioGRID	PubMed	Reconstituted Complex
BioGRID:107463	BioGRID:111142	PCNA	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107463	BioGRID:115333	PDCD6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:114523	PIAS2	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107463	BioGRID:124225	PLEKHA8	BioGRID	PubMed	Reconstituted Complex
BioGRID:107463	BioGRID:111494	PPP1CB	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:111495	PPP1CC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:124202	PPP1R9B	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107463	BioGRID:111564	PRKCA	BioGRID	PubMed	Two-hybrid
BioGRID:107463	BioGRID:111675	PSMC3	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107463	BioGRID:115492	PSME3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:119960	RIN2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:111972	RNF2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:112055	RPL11	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:115808	RPP38	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:116067	RUVBL2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:941018	SAP25	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:117594	SENP3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:118987	SERTAD1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:107463	BioGRID:115823	SIVA1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:107463	BioGRID:112412	SLC4A1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:107463	BioGRID:112481	SMARCA4	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107463	BioGRID:112510	SNRPA	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:112512	SNRPB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:112550	SP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:116994	TDRD7	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:107463	BioGRID:113003	TOP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:113010	TP53	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:114181	TP63	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107463	BioGRID:114257	TRADD	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:114731	TRIP12	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107463	BioGRID:113121	TTF1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:113603	TUBA1A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:124259	TUBA1C	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:128444	TUBB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:115656	TUBB4B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:204381	Tubb5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107463	BioGRID:113167	UBE2A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:113177	UBE2I	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:115566	UBE4B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:113192	UCHL1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:123764	USP26	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:113269	VHL	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Co-fractionation
BioGRID:107463	BioGRID:246987	Vhl	BioGRID	PubMed	Co-fractionation
BioGRID:107463	BioGRID:113323	WRN	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107463	BioGRID:113360	YY1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107463	BioGRID:127098	ZNF420	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107463	BioGRID:1205545	nef	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107463	BioGRID:1205541	tat	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation

Pathways from BioSystems

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Apoptosis, organism-specific biosystem (from WikiPathways)
Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
Bladder cancer, organism-specific biosystem (from KEGG)
Bladder cancer, organism-specific biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
Bladder cancer, conserved biosystem (from KEGG)
Bladder cancer, conserved biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
Cell Cycle, organism-specific biosystem (from REACTOME)
Cell Cycle, organism-specific biosystem
Cell Cycle
Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
Cell cycle, organism-specific biosystem (from WikiPathways)
Cell cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
Cell cycle, organism-specific biosystem (from KEGG)
Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
Cell cycle, conserved biosystem (from KEGG)
Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
Chronic myeloid leukemia, organism-specific biosystem (from KEGG)
Chronic myeloid leukemia, organism-specific biosystemChronic myelogenous leukemia (CML) originates in a pluripotent hematopoetic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood. Myeloid and ot...
Chronic myeloid leukemia, conserved biosystem (from KEGG)
Chronic myeloid leukemia, conserved biosystemChronic myelogenous leukemia (CML) originates in a pluripotent hematopoetic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood. Myeloid and ot...
Cyclin D associated events in G1, organism-specific biosystem (from REACTOME)
Cyclin D associated events in G1, organism-specific biosystemThree D-type cyclins are essential for progression from G1 to S-phase. These D cyclins bind to and activate both CDK4 and CDK6. The formation of all possible complexes between the D-type cyclins and...
DNA damage response (only ATM dependent), organism-specific biosystem (from WikiPathways)
DNA damage response (only ATM dependent), organism-specific biosystemThis is the second pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and TP53) which are connected with the first DNA damage response pathway. In...
G1 Phase, organism-specific biosystem (from REACTOME)
G1 Phase, organism-specific biosystemEarly cell cycle progression in G1 is under the control of the D-type cyclins together with Cdk4 and Cdk6. An important target for these CDKs is the Retinoblastoma (Rb) protein, which when phosphoryl...
G1 to S cell cycle control, organism-specific biosystem (from WikiPathways)
G1 to S cell cycle control, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding C...
Glioma, organism-specific biosystem (from KEGG)
Glioma, organism-specific biosystemGliomas are the most common of the primary brain tumors and account for more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (a...
Glioma, conserved biosystem (from KEGG)
Glioma, conserved biosystemGliomas are the most common of the primary brain tumors and account for more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (a...
HTLV-I infection, organism-specific biosystem (from KEGG)
HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
HTLV-I infection, conserved biosystem (from KEGG)
HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
Melanoma, organism-specific biosystem (from KEGG)
Melanoma, organism-specific biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
Melanoma, conserved biosystem (from KEGG)
Melanoma, conserved biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
Mitotic G1-G1/S phases, organism-specific biosystem
Mitotic G1-G1/S phases
Non-small cell lung cancer, organism-specific biosystem (from KEGG)
Non-small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
Non-small cell lung cancer, conserved biosystem (from KEGG)
Non-small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
Pancreatic cancer, organism-specific biosystem (from KEGG)
Pancreatic cancer, organism-specific biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
Pancreatic cancer, conserved biosystem (from KEGG)
Pancreatic cancer, conserved biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
Pathways in cancer, organism-specific biosystem (from KEGG)
Pathways in cancer, organism-specific biosystem
Pathways in cancer
Senescence and Autophagy, organism-specific biosystem (from WikiPathways)
Senescence and Autophagy, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
TP53 network, organism-specific biosystem (from WikiPathways)
TP53 network, organism-specific biosystemP53 is not a lonely genome guardian, it operates with the assistance of p73 and p63 within a complex network including distinct but complementary pathways. This protein family presents a high le...
Viral carcinogenesis, organism-specific biosystem (from KEGG)
Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
Viral carcinogenesis, conserved biosystem (from KEGG)
Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
p53 signaling pathway, organism-specific biosystem (from KEGG)
p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
p53 signaling pathway, conserved biosystem (from KEGG)
p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...

General gene information

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Markers

PMC33151P2 (e-PCR)
- UniSTS:273152

RH67869 (e-PCR)
- UniSTS:58120

GDB:434761 (e-PCR)
- UniSTS:157208

PMC99853P1 (e-PCR)
- UniSTS:273689

GDB:437702 (e-PCR)
- UniSTS:157253

GDB:437709 (e-PCR)
- UniSTS:157254

GDB:437717 (e-PCR)
- UniSTS:157255

GDB:572854 (e-PCR)
- UniSTS:157772

RH103023 (e-PCR)
- UniSTS:97357

GDB:572861 (e-PCR)
- UniSTS:157774

D9S2060 (e-PCR)
- UniSTS:27737

D9S974 (e-PCR)
- UniSTS:150377

PMC140684P1 (e-PCR)
- UniSTS:270960

PMC140684P2 (e-PCR)
- UniSTS:270961

GDB:679537 (e-PCR)
- UniSTS:158612

GDB:679538 (e-PCR)
- UniSTS:158613

PMC25103P3 (e-PCR)
- UniSTS:272283

D9S1748 (e-PCR)
- UniSTS:154017

GDB:626084 (e-PCR)
- UniSTS:158388

GDB:626104 (e-PCR)
- UniSTS:158391

GDB:626109 (e-PCR)
- UniSTS:158392

GDB:626123 (e-PCR)
- UniSTS:158393

GDB:626126 (e-PCR)
- UniSTS:158394

STS-S69824 (e-PCR)
- UniSTS:27844

PMC92514P2 (e-PCR)
- UniSTS:273616

PMC92514P3 (e-PCR)
- UniSTS:273617

PMC92514P4 (e-PCR)
- UniSTS:273618

D9S942 (e-PCR)
- UniSTS:149983

PMC33151P1 (e-PCR)
- UniSTS:273151

Genotypes

See CDKN2A SNP Geneview Report
See CDKN2A SNP Genotype Report
See CDKN2A SNP Variation Viewer Report

Homology

Homologs of the CDKN2A gene: The CDKN2A gene is conserved in chimpanzee, Rhesus monkey, mouse, rat, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
MDM2/MDM4 family protein binding	IPI Inferred from Physical Interaction more info	PubMed
NF-kappaB binding	IDA Inferred from Direct Assay more info	PubMed
cyclin-dependent protein serine/threonine kinase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
p53 binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
ubiquitin-protein ligase inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
G1 phase of mitotic cell cycle	TAS Traceable Author Statement more info
G1/S transition of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
Ras protein signal transduction	IEP Inferred from Expression Pattern more info	PubMed
activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
apoptotic DNA fragmentation	IMP Inferred from Mutant Phenotype more info	PubMed
apoptotic mitochondrial changes	IMP Inferred from Mutant Phenotype more info	PubMed
cell cycle arrest	IDA Inferred from Direct Assay more info	PubMed
cell cycle arrest	IMP Inferred from Mutant Phenotype more info	PubMed
cell cycle checkpoint	IMP Inferred from Mutant Phenotype more info	PubMed
cellular senescence	IMP Inferred from Mutant Phenotype more info	PubMed
induction of apoptosis	IDA Inferred from Direct Assay more info	PubMed
induction of apoptosis	IMP Inferred from Mutant Phenotype more info	PubMed
mitotic cell cycle	TAS Traceable Author Statement more info
negative regulation of B cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
negative regulation of immature T cell proliferation in thymus	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of phosphorylation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of transcription, DNA-dependent	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of ubiquitin-protein ligase activity	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of DNA damage response, signal transduction by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell cycle arrest	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cellular senescence	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of macrophage apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of protein sumoylation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of smooth muscle cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed
protein K63-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
protein destabilization	IDA Inferred from Direct Assay more info	PubMed
protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
protein stabilization	IDA Inferred from Direct Assay more info	PubMed
rRNA processing	IEA Inferred from Electronic Annotation more info
regulation of G2/M transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of protein export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of protein stability	ISS Inferred from Sequence or Structural Similarity more info
replicative senescence	IMP Inferred from Mutant Phenotype more info	PubMed
senescence-associated heterochromatin focus assembly	IMP Inferred from Mutant Phenotype more info	PubMed
somatic stem cell division	ISS Inferred from Sequence or Structural Similarity more info
transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
mitochondrion	IEA Inferred from Electronic Annotation more info
colocalizes_with nuclear body	IDA Inferred from Direct Assay more info	PubMed
nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
protein complex	IDA Inferred from Direct Assay more info	PubMed
senescence-associated heterochromatin focus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cyclin-dependent kinase inhibitor 2A

Names: cyclin-dependent kinase inhibitor 2A; CDK4 inhibitor p16-INK4; multiple tumor suppressor 1; cell cycle negative regulator beta; cyclin-dependent kinase 4 inhibitor A; cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007485.1 RefSeqGene

Range

5001..31740

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_11

mRNA and Protein(s)

NM_000077.4 → NP_000068.1 cyclin-dependent kinase inhibitor 2A isoform p16INK4a

Status: REVIEWED

Description

Transcript Variant: This variant (1) is also known as alpha. Transcripts 1 and 4, encoding p16INK4a and p14ARF, have distinct first exons which contain the translation start codon, and share a common second exon, which is translated in different reading frames. Thus, the p16INK4a protein encoded by this variant (1) lacks sequence similarity to the protein product of variant 4 (p14ARF).

Source sequence(s)

AL449423, BI258230, BQ012762, BX099567, L27211

Consensus CDS

CCDS6510.1

UniProtKB/TrEMBL

K7PML8

UniProtKB/Swiss-Prot

P42771

Related

ENSP00000307101, OTTHUMP00000021147, ENST00000304494, OTTHUMT00000051915

Conserved Domains (2) summary

cd00204
Location:31 – 130
Blast Score: 167

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam13857
Location:63 – 118
Blast Score: 91

Ank_5; Ankyrin repeats (many copies)
NM_001195132.1 → NP_001182061.1 cyclin-dependent kinase inhibitor 2A isoform p16gamma

Status: REVIEWED

Description

Transcript Variant: This variant (5) includes an additional exon that causes a frameshift in the 3' coding region, compared to variant 1 (encoding p16INK4a). The resulting isoform (p16gamma) has a distinct C-terminus and is longer than p16INK4a. This variant has been described in PMID:17486064. It is a candidate for nonsense-mediated mRNA decay (NMD), but it is not known if the endogenous protein is expressed in vivo.

Source sequence(s)

AL449423, BX099567, DQ318021

Consensus CDS

CCDS56565.1

UniProtKB/Swiss-Prot

P42771

Conserved Domains (2) summary

cd00204
Location:31 – 130
Blast Score: 164

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam13857
Location:63 – 118
Blast Score: 90

Ank_5; Ankyrin repeats (many copies)
NM_058195.3 → NP_478102.2 cyclin-dependent kinase inhibitor 2A isoform p14ARF

Status: REVIEWED

Description

Transcript Variant: This variant (4), also known as beta, encodes isoform p14ARF. Transcripts 1 and 4, encoding p16INK4a and p14ARF have distinct first exons which contain the translation start codon, and share a common second exon, which is translated in different reading frames. Thus, the p16INK4a protein encoded by this variant (1) lacks sequence similarity to the protein product of variant 4 (p14ARF). Note that this variant may use an alternative upstream start codon, which would produce an isoform that is 41 aa longer at the N-terminus, or an alternative downstream start codon, which would produce an isoform (smARF, described in PMID:16713577) that is 47 aa shorter at the N-terminus; it is unclear if the isoforms derived from the alternative start codons are present in vivo. The p14ARF isoform is known to be nucleoplasmic but may also be recruited to mitochondria, as described in PMID:20107316.

Source sequence(s)

BQ012762, BX099567, S78535, U38945

Consensus CDS

CCDS6511.2

UniProtKB/Swiss-Prot

Q8N726

Related

ENSP00000462950, OTTHUMP00000215053, ENST00000579755, OTTHUMT00000051918

Conserved Domains (1) summary

pfam07392
Location:4 – 34
Blast Score: 93

P19Arf_N; Cyclin-dependent kinase inhibitor 2a p19Arf N-terminus
NM_058197.4 → NP_478104.2 cyclin-dependent kinase inhibitor 2A isoform p12

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate open reading frame (ARF), when compared to variants 1 or 4. The ARF results from an alternative splicing between a distinct first exon, which contains the translation start codon, and the common second exon. Thus, the protein encoded by this variant (p12) lacks sequence similarity to the protein product of variant 4. This variant is specifically expressed in pancreas, and has been described in PMID:10445844. It is a candidate for nonsense-mediated mRNA decay (NMD), but it is not known if the endogenous protein is expressed in vivo.

Source sequence(s)

AF115544, AL449423, BQ012762, BX099567

UniProtKB/TrEMBL

G3XAG3

UniProtKB/Swiss-Prot

P42771

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p10 Primary Assembly

Range

21967751..21994490, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

21930969..21957759, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018920.1 Alternate CHM1_1.0

Range

21962539..21989259, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_058196.1: Suppressed sequence

Description

NM_058196.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB060808.1	BAB91133.1
genomic	ABBA01065171.1 (38359..65149)	None
genomic	AF044170.1	AAD02319.1
genomic	AF527803.1	AAM77919.1
		AAR05391.1
genomic	AL449423.14 (58492..85231)	None
genomic	AMYH01019276.1 (52718..79438)	None
genomic	CH471071.2	EAW58598.1
		EAW58599.1
		EAW58600.1
		EAW58601.1
		EAW58602.1
		EAW58603.1
genomic	DQ325544.1	ABC50001.1
genomic	DQ406745.1	ABD72255.1
genomic	S69804.1	AAD14048.1
genomic	U12818.1	AAB60645.1
genomic	U12819.1	AAB60645.1
genomic	U12820.1	AAB60645.1
genomic	X94154.1	CAA63870.1
mRNA	AF115544.1	AAD11437.1
mRNA	AI859822.1	None
mRNA	AL582909.3	None
mRNA	BC015960.2	AAH15960.3
mRNA	BC021998.2	AAH21998.3
mRNA	BI258230.1	None
mRNA	BQ012762.1	None
mRNA	BT007020.1	AAP35666.1
mRNA	BX099567.1	None
mRNA	DQ318021.1	ABC47036.1
mRNA	JQ694043.1	AFN61598.1
mRNA	JQ694044.1	AFN61599.1
mRNA	JQ694045.1	AFN61600.1
mRNA	L27211.1	AAA92554.1
mRNA	S78535.1	AAC60649.1
mRNA	U26727.1	AAA82236.1
mRNA	U38945.1	AAB01737.1
mRNA	AJ844636.1	CAH59950.1