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(CDKN2A) cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) [Homo sapiens]

Gene

Transcript(s)

Exon(s)

Protein(s)

Gene

Accession	28038
Official symbol	CDKN2A
Official name	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
Gene type	protein-coding
Organism	Homo sapiens
Location	chromosome 9 (NC_000009.10) : 21957751...21984491 (-)
Map	9p21
Length	26740 nt

Alternative name(s) and Synynom(s) top

Synonyms	p19; p16INK4a; p16INK4; p16; p14ARF; p14; TP16; MTS1; MLM; INK4a; INK4; CMM2; CDKN2; CDK4I; ARF
Names	multiple tumor suppressor 1 cyclin-dependent kinase inhibitor p16 cyclin-dependent kinase inhibitor 2A cell cycle negative regulator beta OTTHUMP00000021148 OTTHUMP00000021147 CDK4 inhibitor p16-INK4

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Ensembl	ENSG00000147889
GeneID	1029
HGNC	1787
HPRD	02542

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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, MDM1, 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].

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