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MT000115

Record overview

MITO ID	MT000115
Gene ID	1029
Species	Homo sapiens (Human)
Gene Name	cyclin-dependent kinase inhibitor 2A
Gene Symbol	CDKN2A
Synonyms	ARF; MLM; P14; P16; P19; CMM2; INK4; MTS1; TP16; CDK4I; CDKN2; INK4A; MTS-1; P14ARF; P19ARF; P16INK4; P16INK4A; P16-INK4A;
Alternate names	cyclin-dependent kinase inhibitor 2A; CDKN2A; 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);
Chromosome	9
Map Location	9p21
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]
Orthologs	View orthologs and multiple alignments for CDKN2A

Proteins

cyclin-dependent kinase inhibitor 2A isoform p12

Refseq ID:	NP_478104
Protein GI:	98985804
UniProt ID:	P42771
mRNA ID:	NM_058197
Length:	116
RefSeq Status:

cyclin-dependent kinase inhibitor 2A isoform p14ARF
`MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVGRGSAAGAGDGGRLWRTKFAGELESGSASILRKKGRLPGEFSEGVCNHR PPPGDALGAWEAKEEE`

Refseq ID:	NP_478102
Protein GI:	300863096
UniProt ID:	Q8N726
mRNA ID:	NM_058195
Length:	132
RefSeq Status:

cyclin-dependent kinase inhibitor 2A isoform p16gamma
`MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGGAAAAPRRGAQLRRPRHSHPTRARRC PGGLPGHAGGAAPGRGAAGRARCLGPSARGPG`

Refseq ID:	NP_001182061
Protein GI:	304376272
UniProt ID:	P42771
mRNA ID:	NM_001195132
Length:	167
RefSeq Status:

cyclin-dependent kinase inhibitor 2A isoform p16INK4a
`MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRA GARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSEMIGNHLWVCRSRHA`

Refseq ID:	NP_000068
Protein GI:	4502749
UniProt ID:	P42771
mRNA ID:	NM_000077
Length:	156
RefSeq Status:

`MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRA GARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD`