CDKN2A
entrez
1029
canonical
uniprot
P42771
canonical
uniprot
Q8N726
canonical
ensembl
ENSG00000147889
resolver
ensp
ENSP00000307101
resolver
ensp
ENSP00000369496
resolver
ensp
ENSP00000418915
resolver
ensp
ENSP00000462950
resolver
ensp
ENSP00000467390
resolver
ensp
ENSP00000467857
resolver
genesymbol
CDKN2A
resolver
genesymbol_syn
CDKN2
resolver
genesymbol_syn
MLM
resolver
genesymbol_syn
MTS1
resolver
hgnc
HGNC:1787
resolver
uniprot
A5X2G7
resolver
uniprot
D3DRK1
resolver
uniprot
D3DRK2
resolver
uniprot
G3XAG3
resolver
uniprot
K7PML8
resolver
uniprot
O95440
resolver
uniprot
Q13195
resolver
uniprot
Q13399
resolver
uniprot
Q15191
resolver
uniprot
Q16360
resolver
uniprot
Q5VVJ5
resolver
uniprot
Q7KZR9
resolver
uniprot
Q96B52
resolver
uniprot
Q9NP05
resolver
uniprot_entry
ARF_HUMAN
resolver
uniprot_entry
CDN2A_HUMAN
resolver
uniprot_entry
K7PML8_HUMAN
resolver
uniprot_sec
A5X2G7
resolver
uniprot_sec
D3DRK1
resolver
uniprot_sec
D3DRK2
resolver
uniprot_sec
G3XAG3
resolver
uniprot_sec
O95440
resolver
uniprot_sec
Q13195
resolver
uniprot_sec
Q13399
resolver
uniprot_sec
Q15191
resolver
uniprot_sec
Q16360
resolver
uniprot_sec
Q5VVJ5
resolver
uniprot_sec
Q7KZR9
resolver
uniprot_sec
Q96B52
resolver
uniprot_sec
Q9NP05
resolver
amino_acid_sequence
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD
uniprot
proteins
amino_acid_sequence
MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGGAAAAPRRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG
uniprot
proteins
disease_involvement
DISEASE: Note=The association between cutaneous and uveal melanomas in some families suggests that mutations in CDKN2A may account for a proportion of uveal melanomas. However, CDKN2A mutations are rarely found in uveal melanoma patients.; DISEASE: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]: A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but may also involve other sites. {ECO:0000269|PubMed:10651484, ECO:0000269|PubMed:10874641, ECO:0000269|PubMed:11506491, ECO:0000269|PubMed:12019208, ECO:0000269|PubMed:14646619, ECO:0000269|PubMed:19260062, ECO:0000269|PubMed:7987387, ECO:0000269|PubMed:8595405, ECO:0000269|PubMed:8653684, ECO:0000269|PubMed:8710906, ECO:0000269|PubMed:8723678, ECO:0000269|PubMed:9328469, ECO:0000269|PubMed:9425228}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719]: An inherited cancer predisposition syndrome characterized by an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Melanoma-astrocytoma syndrome (MASTS) [MIM:155755]: Characterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma. {ECO:0000269|PubMed:11136714}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein. {ECO:0000269|PubMed:16782892, ECO:0000269|PubMed:7972006}.
uniprot
proteins
function
FUNCTION: Capable of inducing cell cycle arrest in G1 and G2 phases. Acts as a tumor suppressor. Binds to MDM2 and blocks its nucleocytoplasmic shuttling by sequestering it in the nucleolus. This inhibits the oncogenic action of MDM2 by blocking MDM2-induced degradation of p53 and enhancing p53-dependent transactivation and apoptosis. Also induces G2 arrest and apoptosis in a p53-independent manner by preventing the activation of cyclin B1/CDC2 complexes. Binds to BCL6 and down-regulates BCL6-induced transcriptional repression. Binds to E2F1 and MYC and blocks their transcriptional activator activity but has no effect on MYC transcriptional repression. Binds to TOP1/TOPOI and stimulates its activity. This complex binds to rRNA gene promoters and may play a role in rRNA transcription and/or maturation. Interacts with NPM1/B23 and promotes its polyubiquitination and degradation, thus inhibiting rRNA processing. Plays a role in inhibiting ribosome biogenesis, perhaps by binding to the nucleolar localization sequence of transcription termination factor TTF1, and thereby preventing nucleolar localization of TTF1 (By similarity). Interacts with COMMD1 and promotes its 'Lys63'-linked polyubiquitination. Interacts with UBE2I/UBC9 and enhances sumoylation of a number of its binding partners including MDM2 and E2F1. Binds to HUWE1 and represses its ubiquitin ligase activity. May play a role in controlling cell proliferation and apoptosis during mammary gland development. {ECO:0000250|UniProtKB:Q64364, ECO:0000269|PubMed:11314011, ECO:0000269|PubMed:11314038, ECO:0000269|PubMed:12660818, ECO:0000269|PubMed:14636574, ECO:0000269|PubMed:15361825, ECO:0000269|PubMed:15567177, ECO:0000269|PubMed:15876874, ECO:0000269|PubMed:15989956, ECO:0000269|PubMed:16713577, ECO:0000269|PubMed:18305112, ECO:0000269|PubMed:22094112, ECO:0000269|PubMed:9724636}.; FUNCTION: [Isoform smARF]: May be involved in regulation of autophagy and caspase-independent cell death; the short-lived mitochondrial isoform is stabilized by C1QBP. {ECO:0000269|PubMed:16713577}.
uniprot
proteins
mass_dalton
13903
uniprot
proteins
mass_dalton
16533
uniprot
proteins
post_translational_modification
PTM: Phosphorylation seems to increase interaction with CDK4. {ECO:0000269|PubMed:12529334}.
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated in normal cells by TRIP12 via the ubiquitin fusion degradation (UFD) pathway, a process that mediates ubiquitination at the N-terminus, regardless of the absence of lysine residues. Ubiquitination leads to its proteasomal degradation. In cancer cells, however, TRIP12 is located in a different cell compartment, preventing ubiquitination and degradation. {ECO:0000269|PubMed:20208519, ECO:0000269|PubMed:27323397}.
uniprot
proteins
protein_family
CDKN2 cyclin-dependent kinase inhibitor family
uniprot
proteins
pubmed
10445844
uniprot
proteins
pubmed
10484981
uniprot
proteins
pubmed
10556039
uniprot
proteins
pubmed
10651484
uniprot
proteins
pubmed
10874641
uniprot
proteins
pubmed
10892805
uniprot
proteins
pubmed
11136714
uniprot
proteins
pubmed
11314011
uniprot
proteins
pubmed
11314038
uniprot
proteins
pubmed
11506491
uniprot
proteins
pubmed
12019208
uniprot
proteins
pubmed
12154087
uniprot
proteins
pubmed
12228235
uniprot
proteins
pubmed
12446718
uniprot
proteins
pubmed
12529334
uniprot
proteins
pubmed
12556369
uniprot
proteins
pubmed
12581788
uniprot
proteins
pubmed
12660818
uniprot
proteins
pubmed
14636574
uniprot
proteins
pubmed
14646619
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15361825
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15567177
uniprot
proteins
pubmed
15876874
uniprot
proteins
pubmed
15989956
uniprot
proteins
pubmed
16173922
uniprot
proteins
pubmed
16234564
uniprot
proteins
pubmed
16713577
uniprot
proteins
pubmed
16782892
uniprot
proteins
pubmed
17110379
uniprot
proteins
pubmed
17486064
uniprot
proteins
pubmed
17486078
uniprot
proteins
pubmed
17658461
uniprot
proteins
pubmed
18305112
uniprot
proteins
pubmed
19260062
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20208519
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22094112
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
27323397
uniprot
proteins
pubmed
7606716
uniprot
proteins
pubmed
7624129
uniprot
proteins
pubmed
7647780
uniprot
proteins
pubmed
7882351
uniprot
proteins
pubmed
7970734
uniprot
proteins
pubmed
7972006
uniprot
proteins
pubmed
7987387
uniprot
proteins
pubmed
8060323
uniprot
proteins
pubmed
8152487
uniprot
proteins
pubmed
8153634
uniprot
proteins
pubmed
8259215
uniprot
proteins
pubmed
8595405
uniprot
proteins
pubmed
8622687
uniprot
proteins
pubmed
8653684
uniprot
proteins
pubmed
8710906
uniprot
proteins
pubmed
8723678
uniprot
proteins
pubmed
8783570
uniprot
proteins
pubmed
9328469
uniprot
proteins
pubmed
9425228
uniprot
proteins
pubmed
9724636
uniprot
proteins
pubmed
9751050
uniprot
proteins
sequence_length
132
uniprot
proteins
sequence_length
156
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17658461}. Nucleus {ECO:0000269|PubMed:17658461}.
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:16173922, ECO:0000269|PubMed:18305112, ECO:0000269|PubMed:22094112, ECO:0000269|PubMed:27323397}. Nucleus, nucleoplasm {ECO:0000269|PubMed:18305112, ECO:0000269|PubMed:27323397}.; SUBCELLULAR LOCATION: [Isoform smARF]: Mitochondrion {ECO:0000269|PubMed:16713577}.
uniprot
proteins