UniProtKB - P42771 (CDN2A_HUMAN)
Cyclin-dependent kinase inhibitor 2A
CDKN2A
Functioni
Caution
GO - Molecular functioni
- cyclin-dependent protein serine/threonine kinase inhibitor activity Source: BHF-UCL
- NF-kappaB binding Source: BHF-UCL
- protein kinase binding Source: BHF-UCL
- RNA binding Source: UniProtKB
GO - Biological processi
- cell cycle arrest Source: BHF-UCL
- cellular senescence Source: BHF-UCL
- G1/S transition of mitotic cell cycle Source: BHF-UCL
- negative regulation of cell growth Source: BHF-UCL
- negative regulation of cell-matrix adhesion Source: BHF-UCL
- negative regulation of cell population proliferation Source: BHF-UCL
- negative regulation of cyclin-dependent protein serine/threonine kinase activity Source: BHF-UCL
- negative regulation of G1/S transition of mitotic cell cycle Source: Reactome
- negative regulation of NF-kappaB transcription factor activity Source: BHF-UCL
- negative regulation of phosphorylation Source: BHF-UCL
- negative regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of cellular senescence Source: UniProtKB
- positive regulation of macrophage apoptotic process Source: BHF-UCL
- positive regulation of smooth muscle cell apoptotic process Source: BHF-UCL
- Ras protein signal transduction Source: BHF-UCL
- regulation of transcription initiation from RNA polymerase II promoter Source: Reactome
- replicative senescence Source: BHF-UCL
- senescence-associated heterochromatin focus assembly Source: UniProtKB
Keywordsi
Biological process | Cell cycle |
Enzyme and pathway databases
PathwayCommonsi | P42771 |
Reactomei | R-HSA-2559580, Oxidative Stress Induced Senescence R-HSA-2559582, Senescence-Associated Secretory Phenotype (SASP) R-HSA-2559585, Oncogene Induced Senescence R-HSA-69231, Cyclin D associated events in G1 R-HSA-8853884, Transcriptional Regulation by VENTX R-HSA-9630791, Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 R-HSA-9630794, Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 R-HSA-9632697, Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 R-HSA-9632700, Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 |
SIGNORi | P42771 |
Names & Taxonomyi
Protein namesi | Recommended name: Cyclin-dependent kinase inhibitor 2AImportedAlternative name(s): Cyclin-dependent kinase 4 inhibitor A Short name: CDK4I Multiple tumor suppressor 1 Short name: MTS-1 p16-INK4a Short name: p16-INK4 Short name: p16INK4A |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1787, CDKN2A |
MIMi | 600160, gene |
neXtProti | NX_P42771 |
VEuPathDBi | HostDB:ENSG00000147889.16 |
Subcellular locationi
Cytosol
- cytosol Source: Reactome
Nucleus
- nucleus Source: HGNC-UCL
Other locations
- cytoplasm Source: HGNC-UCL
- senescence-associated heterochromatin focus Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Melanoma, cutaneous malignant 2 (CMM2)12 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_058549 | 19 | A → ATA in CMM2; loss of CDK4 binding. | 1 | |
Natural variantiVAR_001413 | 24 | R → C in CMM2. | 1 | |
Natural variantiVAR_001414 | 24 | R → P in CMM2. 1 PublicationCorresponds to variant dbSNP:rs104894097EnsemblClinVar. | 1 | |
Natural variantiVAR_001416 | 32 | L → P in CMM2. 1 PublicationCorresponds to variant dbSNP:rs878853650EnsemblClinVar. | 1 | |
Natural variantiVAR_001418 | 35 | G → A in CMM2; also found in a biliary tract tumor and a patient with uveal melanoma; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar. | 1 | |
Natural variantiVAR_001419 | 35 | G → E in CMM2. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar. | 1 | |
Natural variantiVAR_058551 | 35 | G → V in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar. | 1 | |
Natural variantiVAR_001420 | 48 | P → L in CMM2; also found in head and neck tumor; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_001423 | 50 | Q → R in CMM2. 1 PublicationCorresponds to variant dbSNP:rs587778189EnsemblClinVar. | 1 | |
Natural variantiVAR_001424 | 53 | M → I in CMM2. 3 PublicationsCorresponds to variant dbSNP:rs104894095EnsemblClinVar. | 1 | |
Natural variantiVAR_001427 | 59 | V → G in CMM2. 1 PublicationCorresponds to variant dbSNP:rs104894099EnsemblClinVar. | 1 | |
Natural variantiVAR_001430 | 62 | L → P in CMM2. | 1 | |
Natural variantiVAR_058553 | 67 | G → R in CMM2; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs758389471EnsemblClinVar. | 1 | |
Natural variantiVAR_001432 | 68 | A → L in CMM2; requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs876658534Ensembl. | 1 | |
Natural variantiVAR_001437 | 71 | N → K in CMM2. | 1 | |
Natural variantiVAR_058555 | 74 | D → Y in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs760640852EnsemblClinVar. | 1 | |
Natural variantiVAR_058556 | 77 | T → P in CMM2; loss of CDK4 binding. 1 Publication | 1 | |
Natural variantiVAR_058557 | 80 | R → P in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs1057519883Ensembl. | 1 | |
Natural variantiVAR_058558 | 81 | P → T in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs1334828764EnsemblClinVar. | 1 | |
Natural variantiVAR_001449 | 84 | D → Y in CMM2; also found in a lung tumor and a prostate tumor. 1 PublicationCorresponds to variant dbSNP:rs11552822EnsemblClinVar. | 1 | |
Natural variantiVAR_001451 | 87 | R → P in CMM2; impairs the function. 2 PublicationsCorresponds to variant dbSNP:rs878853647EnsemblClinVar. | 1 | |
Natural variantiVAR_012317 | 87 | R → W in CMM2; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs749714198EnsemblClinVar. | 1 | |
Natural variantiVAR_001453 | 89 | G → D in CMM2; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137854599EnsemblClinVar. | 1 | |
Natural variantiVAR_001454 | 89 | G → S in CMM2. Corresponds to variant dbSNP:rs137854597Ensembl. | 1 | |
Natural variantiVAR_023604 | 94 | L → Q in CMM2. 1 Publication | 1 | |
Natural variantiVAR_001457 | 97 | L → R in CMM2; loss of CDK4 binding. 1 Publication | 1 | |
Natural variantiVAR_001458 | 98 | H → P in CMM2. | 1 | |
Natural variantiVAR_001459 | 98 | H → Q in CMM2. | 1 | |
Natural variantiVAR_001460 | 99 | R → P in CMM2; loss of CDK4 binding. Corresponds to variant dbSNP:rs754806883EnsemblClinVar. | 1 | |
Natural variantiVAR_001462 | 100 | A → L in CMM2; requires 2 nucleotide substitutions. | 1 | |
Natural variantiVAR_001464 | 101 | G → W in CMM2 and FAMMMPC; impairs the function. 3 PublicationsCorresponds to variant dbSNP:rs104894094EnsemblClinVar. | 1 | |
Natural variantiVAR_001466 | 107 | R → C in CMM2. 1 PublicationCorresponds to variant dbSNP:rs1554654024EnsemblClinVar. | 1 | |
Natural variantiVAR_035068 | 112 | R → RR in CMM2. 1 Publication | 1 | |
Natural variantiVAR_001471 | 117 | L → M in CMM2; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_001472 | 118 | A → T in CMM2. 1 PublicationCorresponds to variant dbSNP:rs1554653960EnsemblClinVar. | 1 | |
Natural variantiVAR_035069 | 122 | G → R in CMM2. 1 PublicationCorresponds to variant dbSNP:rs113798404Ensembl. | 1 | |
Natural variantiVAR_001479 | 126 | V → D in CMM2; impairs the function. 3 PublicationsCorresponds to variant dbSNP:rs104894098EnsemblClinVar. | 1 |
Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC)
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_001464 | 101 | G → W in CMM2 and FAMMMPC; impairs the function. 3 PublicationsCorresponds to variant dbSNP:rs104894094EnsemblClinVar. | 1 |
Melanoma-astrocytoma syndrome (MASTS)1 Publication
Keywords - Diseasei
Disease variant, Li-Fraumeni syndrome, Tumor suppressorOrganism-specific databases
DisGeNETi | 1029 |
MalaCardsi | CDKN2A |
MIMi | 155601, phenotype 155755, phenotype 606719, phenotype |
OpenTargetsi | ENSG00000147889 |
Orphaneti | 404560, Familial atypical multiple mole melanoma syndrome 618, Familial melanoma 1333, Familial pancreatic carcinoma 524, Li-Fraumeni syndrome 252206, Melanoma and neural system tumor syndrome 99860, Precursor B-cell acute lymphoblastic leukemia 99861, Precursor T-cell acute lymphoblastic leukemia |
PharmGKBi | PA106 |
Miscellaneous databases
Pharosi | P42771, Tbio |
Genetic variation databases
BioMutai | CDKN2A |
DMDMi | 3041660 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000144177 | 1 – 156 | Cyclin-dependent kinase inhibitor 2AAdd BLAST | 156 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 7 | Phosphoserine1 Publication | 1 | |
Modified residuei | 8 | Phosphoserine1 Publication | 1 | |
Modified residuei | 140 | Phosphoserine1 Publication | 1 | |
Modified residuei | 152 | Phosphoserine1 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
CPTACi | CPTAC-333 CPTAC-334 |
EPDi | P42771 |
jPOSTi | P42771 |
MassIVEi | P42771 |
PaxDbi | P42771 |
PeptideAtlasi | P42771 |
PRIDEi | P42771 |
ProteomicsDBi | 33740 55551 [P42771-1] 55552 [P42771-2] 55553 [P42771-3] 55554 [P42771-4] |
TopDownProteomicsi | P42771-1 [P42771-1] |
PTM databases
iPTMneti | P42771 |
PhosphoSitePlusi | P42771 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000147889, Expressed in adenohypophysis and 208 other tissues |
ExpressionAtlasi | P42771, baseline and differential |
Genevisiblei | P42771, HS |
Organism-specific databases
HPAi | ENSG00000147889, Tissue enhanced (blood, pituitary gland) |
Interactioni
Subunit structurei
Heterodimer with CDK4 or CDK6. Predominant p16 complexes contained CDK6.
Interacts with CDK4 (both 'T-172'-phosphorylated and non-phosphorylated forms); the interaction inhibits cyclin D-CDK4 kinase activity.
Interacts with ISCO2.
2 PublicationsBinary interactionsi
Hide detailsP42771
GO - Molecular functioni
- NF-kappaB binding Source: BHF-UCL
- protein kinase binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 107463, 268 interactors |
CORUMi | P42771 |
DIPi | DIP-6108N |
IntActi | P42771, 65 interactors |
MINTi | P42771 |
STRINGi | 9606.ENSP00000418915 |
Miscellaneous databases
RNActi | P42771, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | P42771 |
SMRi | P42771 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P42771 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 11 – 40 | ANK 1Add BLAST | 30 | |
Repeati | 44 – 72 | ANK 2Add BLAST | 29 | |
Repeati | 77 – 106 | ANK 3Add BLAST | 30 | |
Repeati | 110 – 139 | ANK 4Add BLAST | 30 |
Sequence similaritiesi
Keywords - Domaini
ANK repeat, RepeatPhylogenomic databases
eggNOGi | KOG0504, Eukaryota |
GeneTreei | ENSGT00940000163078 |
HOGENOMi | CLU_2229116_0_0_1 |
InParanoidi | P42771 |
OMAi | RDEDKGM |
OrthoDBi | 1435166at2759 |
TreeFami | TF352389 |
Family and domain databases
Gene3Di | 1.25.40.20, 1 hit |
InterProi | View protein in InterPro IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf |
SUPFAMi | SSF48403, SSF48403, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEPAAGSSME PSADWLATAA ARGRVEEVRA LLEAGALPNA PNSYGRRPIQ
60 70 80 90 100
VMMMGSARVA ELLLLHGAEP NCADPATLTR PVHDAAREGF LDTLVVLHRA
110 120 130 140 150
GARLDVRDAW GRLPVDLAEE LGHRDVARYL RAAAGGTRGS NHARIDAAEG
PSDIPD
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7ES20 | K7ES20_HUMAN | Cyclin-dependent kinase inhibitor 2... | CDKN2A | 104 | Annotation score: | ||
K7ENC6 | K7ENC6_HUMAN | Cyclin-dependent kinase inhibitor 2... | CDKN2A | 121 | Annotation score: | ||
J3QRG6 | J3QRG6_HUMAN | Cyclin-dependent kinase inhibitor 2... | CDKN2A | 138 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Isoform 3 (identifier: P42771-3) | |||||
Sequence conflicti | 54 | G → R in AAD11437 (PubMed:10445844).Curated | 1 | ||
Sequence conflicti | 112 | A → T in AAD11437 (PubMed:10445844).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_001408 | 14 | D → E in a biliary tract tumor. | 1 | |
Natural variantiVAR_001409 | 16 | L → P in a biliary tract tumor and a familial melanoma. | 1 | |
Natural variantiVAR_058549 | 19 | A → ATA in CMM2; loss of CDK4 binding. | 1 | |
Natural variantiVAR_001410 | 20 | A → P in a lung tumor and melanoma. Corresponds to variant dbSNP:rs760065045EnsemblClinVar. | 1 | |
Natural variantiVAR_001411 | 20 | A → S in a biliary tract tumor. Corresponds to variant dbSNP:rs760065045EnsemblClinVar. | 1 | |
Natural variantiVAR_001412 | 23 | G → D in a pancreas tumor and a melanoma; loss of CDK4 binding. Corresponds to variant dbSNP:rs1064794292EnsemblClinVar. | 1 | |
Natural variantiVAR_001413 | 24 | R → C in CMM2. | 1 | |
Natural variantiVAR_001414 | 24 | R → P in CMM2. 1 PublicationCorresponds to variant dbSNP:rs104894097EnsemblClinVar. | 1 | |
Natural variantiVAR_058550 | 24 | R → Q Found in a patient with multiple primary melanoma; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs104894097EnsemblClinVar. | 1 | |
Natural variantiVAR_001415 | 26 | E → D in a biliary tract tumor. | 1 | |
Natural variantiVAR_001416 | 32 | L → P in CMM2. 1 PublicationCorresponds to variant dbSNP:rs878853650EnsemblClinVar. | 1 | |
Natural variantiVAR_001417 | 33 | E → D in a biliary tract tumor. | 1 | |
Natural variantiVAR_001418 | 35 | G → A in CMM2; also found in a biliary tract tumor and a patient with uveal melanoma; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar. | 1 | |
Natural variantiVAR_001419 | 35 | G → E in CMM2. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar. | 1 | |
Natural variantiVAR_058551 | 35 | G → V in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar. | 1 | |
Natural variantiVAR_001420 | 48 | P → L in CMM2; also found in head and neck tumor; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_001421 | 49 | I → S in a biliary tract tumor. Corresponds to variant dbSNP:rs199907548EnsemblClinVar. | 1 | |
Natural variantiVAR_001422 | 49 | I → T2 PublicationsCorresponds to variant dbSNP:rs199907548EnsemblClinVar. | 1 | |
Natural variantiVAR_001423 | 50 | Q → R in CMM2. 1 PublicationCorresponds to variant dbSNP:rs587778189EnsemblClinVar. | 1 | |
Natural variantiVAR_001424 | 53 | M → I in CMM2. 3 PublicationsCorresponds to variant dbSNP:rs104894095EnsemblClinVar. | 1 | |
Natural variantiVAR_001425 | 56 | S → I. Corresponds to variant dbSNP:rs104894109EnsemblClinVar. | 1 | |
Natural variantiVAR_001426 | 57 | A → V in pancreas carcinoma; somatic mutation; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs372266620EnsemblClinVar. | 1 | |
Natural variantiVAR_001427 | 59 | V → G in CMM2. 1 PublicationCorresponds to variant dbSNP:rs104894099EnsemblClinVar. | 1 | |
Natural variantiVAR_001428 | 60 | A → T. Corresponds to variant dbSNP:rs769382085EnsemblClinVar. | 1 | |
Natural variantiVAR_053028 | 60 | A → V in melanoma; loss of CDK4 binding. Corresponds to variant dbSNP:rs36204594EnsemblClinVar. | 1 | |
Natural variantiVAR_001429 | 61 – 62 | EL → DV. | 2 | |
Natural variantiVAR_001430 | 62 | L → P in CMM2. | 1 | |
Natural variantiVAR_001431 | 66 | H → Y in non-small cell lung carcinoma. 1 Publication | 1 | |
Natural variantiVAR_058552 | 67 – 71 | Missing in melanoma; loss of CDK4 binding. 1 Publication | 5 | |
Natural variantiVAR_058553 | 67 | G → R in CMM2; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs758389471EnsemblClinVar. | 1 | |
Natural variantiVAR_001432 | 68 | A → L in CMM2; requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs876658534Ensembl. | 1 | |
Natural variantiVAR_001433 | 68 | A → T in an esophagus tumor. | 1 | |
Natural variantiVAR_001434 | 68 | A → V1 PublicationCorresponds to variant dbSNP:rs1060501260EnsemblClinVar. | 1 | |
Natural variantiVAR_058554 | 69 | E → G Found in some patients with melanoma; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs372670098EnsemblClinVar. | 1 | |
Natural variantiVAR_001435 | 69 | E → K in a bladder tumor. | 1 | |
Natural variantiVAR_001436 | 69 | E → V in a lung tumor. | 1 | |
Natural variantiVAR_001437 | 71 | N → K in CMM2. | 1 | |
Natural variantiVAR_001438 | 71 | N → S2 PublicationsCorresponds to variant dbSNP:rs559848002EnsemblClinVar. | 1 | |
Natural variantiVAR_001439 | 72 | C → G in an esophagus tumor. | 1 | |
Natural variantiVAR_001440 | 74 | D → N in a bladder tumor. Corresponds to variant dbSNP:rs760640852EnsemblClinVar. | 1 | |
Natural variantiVAR_001441 | 74 | D → V in a biliary tract tumor. | 1 | |
Natural variantiVAR_058555 | 74 | D → Y in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs760640852EnsemblClinVar. | 1 | |
Natural variantiVAR_058556 | 77 | T → P in CMM2; loss of CDK4 binding. 1 Publication | 1 | |
Natural variantiVAR_001442 | 80 | R → L in a head and neck tumor. | 1 | |
Natural variantiVAR_058557 | 80 | R → P in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs1057519883Ensembl. | 1 | |
Natural variantiVAR_001443 | 81 | P → L in some patients with melanoma; impairs the function. 1 PublicationCorresponds to variant dbSNP:rs11552823Ensembl. | 1 | |
Natural variantiVAR_058558 | 81 | P → T in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs1334828764EnsemblClinVar. | 1 | |
Natural variantiVAR_001445 | 83 | H → N in a lung tumor. | 1 | |
Natural variantiVAR_053029 | 83 | H → Q. Corresponds to variant dbSNP:rs34968276EnsemblClinVar. | 1 | |
Natural variantiVAR_001444 | 83 | H → Y in a pancreas tumor; also found in head and neck tumor. Corresponds to variant dbSNP:rs121913385EnsemblClinVar. | 1 | |
Natural variantiVAR_001446 | 84 | D → E in a bladder tumor. | 1 | |
Natural variantiVAR_001447 | 84 | D → H in non-small cell lung carcinoma. 1 Publication | 1 | |
Natural variantiVAR_001448 | 84 | D → N in an esophagus tumor; also found in head and neck tumor; also found in a lung tumor. Corresponds to variant dbSNP:rs11552822EnsemblClinVar. | 1 | |
Natural variantiVAR_001449 | 84 | D → Y in CMM2; also found in a lung tumor and a prostate tumor. 1 PublicationCorresponds to variant dbSNP:rs11552822EnsemblClinVar. | 1 | |
Natural variantiVAR_001450 | 85 | A → T1 PublicationCorresponds to variant dbSNP:rs878853646EnsemblClinVar. | 1 | |
Natural variantiVAR_001451 | 87 | R → P in CMM2; impairs the function. 2 PublicationsCorresponds to variant dbSNP:rs878853647EnsemblClinVar. | 1 | |
Natural variantiVAR_012317 | 87 | R → W in CMM2; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs749714198EnsemblClinVar. | 1 | |
Natural variantiVAR_001452 | 88 | E → D in a biliary tract tumor. | 1 | |
Natural variantiVAR_001453 | 89 | G → D in CMM2; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137854599EnsemblClinVar. | 1 | |
Natural variantiVAR_001454 | 89 | G → S in CMM2. Corresponds to variant dbSNP:rs137854597Ensembl. | 1 | |
Natural variantiVAR_001455 | 93 | T → A in non-small cell lung carcinoma. 1 Publication | 1 | |
Natural variantiVAR_023604 | 94 | L → Q in CMM2. 1 Publication | 1 | |
Natural variantiVAR_001456 | 95 | V → A in non-small cell lung carcinoma. 1 Publication | 1 | |
Natural variantiVAR_001457 | 97 | L → R in CMM2; loss of CDK4 binding. 1 Publication | 1 | |
Natural variantiVAR_001458 | 98 | H → P in CMM2. | 1 | |
Natural variantiVAR_001459 | 98 | H → Q in CMM2. | 1 | |
Natural variantiVAR_001460 | 99 | R → P in CMM2; loss of CDK4 binding. Corresponds to variant dbSNP:rs754806883EnsemblClinVar. | 1 | |
Natural variantiVAR_001461 | 99 | R → Q in non-small cell lung carcinoma. 1 PublicationCorresponds to variant dbSNP:rs754806883EnsemblClinVar. | 1 | |
Natural variantiVAR_053030 | 99 | R → W. Corresponds to variant dbSNP:rs34886500EnsemblClinVar. | 1 | |
Natural variantiVAR_001462 | 100 | A → L in CMM2; requires 2 nucleotide substitutions. | 1 | |
Natural variantiVAR_001463 | 100 | A → P. | 1 | |
Natural variantiVAR_001464 | 101 | G → W in CMM2 and FAMMMPC; impairs the function. 3 PublicationsCorresponds to variant dbSNP:rs104894094EnsemblClinVar. | 1 | |
Natural variantiVAR_015818 | 102 | A → E Found in seminoma and medulloblastoma tissues from Li-Fraumeni syndrome patients carrying a mutation in TP53; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137854598EnsemblClinVar. | 1 | |
Natural variantiVAR_053031 | 102 | A → T. Corresponds to variant dbSNP:rs35741010EnsemblClinVar. | 1 | |
Natural variantiVAR_001465 | 104 – 105 | Missing . | 2 | |
Natural variantiVAR_001466 | 107 | R → C in CMM2. 1 PublicationCorresponds to variant dbSNP:rs1554654024EnsemblClinVar. | 1 | |
Natural variantiVAR_001467 | 107 | R → H. Corresponds to variant dbSNP:rs370823171EnsemblClinVar. | 1 | |
Natural variantiVAR_001469 | 108 | D → H in a bladder tumor. | 1 | |
Natural variantiVAR_001468 | 108 | D → Y in a head and neck tumor. Corresponds to variant dbSNP:rs121913381EnsemblClinVar. | 1 | |
Natural variantiVAR_035068 | 112 | R → RR in CMM2. 1 Publication | 1 | |
Natural variantiVAR_001470 | 114 | P → L in non-small cell lung carcinoma. 1 PublicationCorresponds to variant dbSNP:rs121913386EnsemblClinVar. | 1 | |
Natural variantiVAR_058559 | 114 | P → S Found in some patients with melanoma; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs104894104Ensembl. | 1 | |
Natural variantiVAR_001471 | 117 | L → M in CMM2; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_001472 | 118 | A → T in CMM2. 1 PublicationCorresponds to variant dbSNP:rs1554653960EnsemblClinVar. | 1 | |
Natural variantiVAR_001473 | 119 | E → Q in a biliary tract tumor. | 1 | |
Natural variantiVAR_001474 | 120 | E → A in non-small cell lung carcinoma. 1 Publication | 1 | |
Natural variantiVAR_001475 | 120 | E → K in non-small cell lung carcinoma. 1 Publication | 1 | |
Natural variantiVAR_035069 | 122 | G → R in CMM2. 1 PublicationCorresponds to variant dbSNP:rs113798404Ensembl. | 1 | |
Natural variantiVAR_001476 | 122 | G → S in a biliary tract tumor. Corresponds to variant dbSNP:rs113798404Ensembl. | 1 | |
Natural variantiVAR_001477 | 123 | H → Q in leukemia. Corresponds to variant dbSNP:rs6413463EnsemblClinVar. | 1 | |
Natural variantiVAR_053032 | 124 | R → C. Corresponds to variant dbSNP:rs34170727EnsemblClinVar. | 1 | |
Natural variantiVAR_001478 | 124 | R → H in an esophagus tumor. Corresponds to variant dbSNP:rs747621669Ensembl. | 1 | |
Natural variantiVAR_001479 | 126 | V → D in CMM2; impairs the function. 3 PublicationsCorresponds to variant dbSNP:rs104894098EnsemblClinVar. | 1 | |
Natural variantiVAR_001480 | 127 | A → S in squamous cell carcinoma. 1 PublicationCorresponds to variant dbSNP:rs6413464EnsemblClinVar. | 1 | |
Natural variantiVAR_001481 | 132 | A → P in non-small cell lung carcinoma. 1 Publication | 1 | |
Natural variantiVAR_001482 | 134 | A → V in non-small cell lung carcinoma. 1 PublicationCorresponds to variant dbSNP:rs757497674EnsemblClinVar. | 1 | |
Natural variantiVAR_001483 | 142 | H → Y in non-small cell lung carcinoma. 1 Publication | 1 | |
Natural variantiVAR_001484 | 144 | R → C in squamous cell carcinoma. 1 PublicationCorresponds to variant dbSNP:rs116150891EnsemblClinVar. | 1 | |
Natural variantiVAR_001486 | 148 | A → T7 PublicationsCorresponds to variant dbSNP:rs3731249EnsemblClinVar. | 1 | |
Natural variantiVAR_001487 | 150 | G → V in non-small cell lung carcinoma. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_015864 | 1 – 51 | Missing in isoform 2. CuratedAdd BLAST | 51 | |
Alternative sequenceiVSP_015865 | 52 – 116 | MMMGS…RLPVD → GRGSAAGAGDGGRLWRTKFA GELESGSASILRKKGRLPGE FSEGVCNHRPPPGDALGAWE AKEEE in isoform 3. 1 PublicationAdd BLAST | 65 | |
Alternative sequenceiVSP_015866 | 117 – 156 | Missing in isoform 3. 1 PublicationAdd BLAST | 40 | |
Alternative sequenceiVSP_043577 | 153 – 156 | DIPD → EMIGNHLWVCRSRHA in isoform 5. 1 Publication | 4 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L27211 mRNA Translation: AAA92554.1 AF115544 mRNA Translation: AAD11437.1 AB060808 Genomic DNA Translation: BAB91133.1 AF527803 Genomic DNA Translation: AAR05391.1 DQ318021 mRNA Translation: ABC47036.1 AL449423 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58598.1 CH471071 Genomic DNA Translation: EAW58599.1 CH471071 Genomic DNA Translation: EAW58603.1 X94154 Genomic DNA Translation: CAA63870.1 AH007355 Genomic DNA Translation: AAD14050.1 S69804 Genomic DNA Translation: AAD14048.1 U12820, U12818, U12819 Genomic DNA Translation: AAB60645.1 Different initiation. |
CCDSi | CCDS56565.1 [P42771-4] CCDS6510.1 [P42771-1] CCDS87644.1 [P42771-2] |
PIRi | JE0141 |
RefSeqi | NP_000068.1, NM_000077.4 [P42771-1] NP_001182061.1, NM_001195132.1 [P42771-4] NP_478104.2, NM_058197.4 [P42771-3] XP_005251400.1, XM_005251343.1 [P42771-2] XP_011515981.1, XM_011517679.1 |
Genome annotation databases
Ensembli | ENST00000304494; ENSP00000307101; ENSG00000147889 [P42771-1] ENST00000380151; ENSP00000369496; ENSG00000147889 [P42771-3] ENST00000494262; ENSP00000464952; ENSG00000147889 [P42771-2] ENST00000498124; ENSP00000418915; ENSG00000147889 [P42771-4] ENST00000498628; ENSP00000467857; ENSG00000147889 [P42771-2] ENST00000578845; ENSP00000467390; ENSG00000147889 [P42771-2] |
GeneIDi | 1029 |
KEGGi | hsa:1029 |
UCSCi | uc003zpj.4, human uc003zpk.4, human [P42771-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
CDKN2A Database Database of CDKN2A germline and somatic variants |
NIEHS-SNPs |
Wikipedia P16INK4a entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L27211 mRNA Translation: AAA92554.1 AF115544 mRNA Translation: AAD11437.1 AB060808 Genomic DNA Translation: BAB91133.1 AF527803 Genomic DNA Translation: AAR05391.1 DQ318021 mRNA Translation: ABC47036.1 AL449423 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58598.1 CH471071 Genomic DNA Translation: EAW58599.1 CH471071 Genomic DNA Translation: EAW58603.1 X94154 Genomic DNA Translation: CAA63870.1 AH007355 Genomic DNA Translation: AAD14050.1 S69804 Genomic DNA Translation: AAD14048.1 U12820, U12818, U12819 Genomic DNA Translation: AAB60645.1 Different initiation. |
CCDSi | CCDS56565.1 [P42771-4] CCDS6510.1 [P42771-1] CCDS87644.1 [P42771-2] |
PIRi | JE0141 |
RefSeqi | NP_000068.1, NM_000077.4 [P42771-1] NP_001182061.1, NM_001195132.1 [P42771-4] NP_478104.2, NM_058197.4 [P42771-3] XP_005251400.1, XM_005251343.1 [P42771-2] XP_011515981.1, XM_011517679.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1A5E | NMR | - | A | 1-156 | [»] | |
1BI7 | X-ray | 3.40 | B | 1-156 | [»] | |
1DC2 | NMR | - | A | 1-156 | [»] | |
2A5E | NMR | - | A | 1-156 | [»] | |
BMRBi | P42771 | |||||
SMRi | P42771 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107463, 268 interactors |
CORUMi | P42771 |
DIPi | DIP-6108N |
IntActi | P42771, 65 interactors |
MINTi | P42771 |
STRINGi | 9606.ENSP00000418915 |
PTM databases
iPTMneti | P42771 |
PhosphoSitePlusi | P42771 |
Genetic variation databases
BioMutai | CDKN2A |
DMDMi | 3041660 |
Proteomic databases
CPTACi | CPTAC-333 CPTAC-334 |
EPDi | P42771 |
jPOSTi | P42771 |
MassIVEi | P42771 |
PaxDbi | P42771 |
PeptideAtlasi | P42771 |
PRIDEi | P42771 |
ProteomicsDBi | 33740 55551 [P42771-1] 55552 [P42771-2] 55553 [P42771-3] 55554 [P42771-4] |
TopDownProteomicsi | P42771-1 [P42771-1] |
Protocols and materials databases
ABCDi | P42771, 8 sequenced antibodies |
Antibodypediai | 3608, 1455 antibodies |
DNASUi | 1029 |
Genome annotation databases
Ensembli | ENST00000304494; ENSP00000307101; ENSG00000147889 [P42771-1] ENST00000380151; ENSP00000369496; ENSG00000147889 [P42771-3] ENST00000494262; ENSP00000464952; ENSG00000147889 [P42771-2] ENST00000498124; ENSP00000418915; ENSG00000147889 [P42771-4] ENST00000498628; ENSP00000467857; ENSG00000147889 [P42771-2] ENST00000578845; ENSP00000467390; ENSG00000147889 [P42771-2] |
GeneIDi | 1029 |
KEGGi | hsa:1029 |
UCSCi | uc003zpj.4, human uc003zpk.4, human [P42771-1] |
Organism-specific databases
CTDi | 1029 |
DisGeNETi | 1029 |
GeneCardsi | CDKN2A |
HGNCi | HGNC:1787, CDKN2A |
HPAi | ENSG00000147889, Tissue enhanced (blood, pituitary gland) |
MalaCardsi | CDKN2A |
MIMi | 155601, phenotype 155755, phenotype 600160, gene 606719, phenotype |
neXtProti | NX_P42771 |
OpenTargetsi | ENSG00000147889 |
Orphaneti | 404560, Familial atypical multiple mole melanoma syndrome 618, Familial melanoma 1333, Familial pancreatic carcinoma 524, Li-Fraumeni syndrome 252206, Melanoma and neural system tumor syndrome 99860, Precursor B-cell acute lymphoblastic leukemia 99861, Precursor T-cell acute lymphoblastic leukemia |
PharmGKBi | PA106 |
VEuPathDBi | HostDB:ENSG00000147889.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0504, Eukaryota |
GeneTreei | ENSGT00940000163078 |
HOGENOMi | CLU_2229116_0_0_1 |
InParanoidi | P42771 |
OMAi | RDEDKGM |
OrthoDBi | 1435166at2759 |
TreeFami | TF352389 |
Enzyme and pathway databases
PathwayCommonsi | P42771 |
Reactomei | R-HSA-2559580, Oxidative Stress Induced Senescence R-HSA-2559582, Senescence-Associated Secretory Phenotype (SASP) R-HSA-2559585, Oncogene Induced Senescence R-HSA-69231, Cyclin D associated events in G1 R-HSA-8853884, Transcriptional Regulation by VENTX R-HSA-9630791, Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 R-HSA-9630794, Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 R-HSA-9632697, Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 R-HSA-9632700, Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6 |
SIGNORi | P42771 |
Miscellaneous databases
BioGRID-ORCSi | 1029, 14 hits in 1002 CRISPR screens |
ChiTaRSi | CDKN2A, human |
EvolutionaryTracei | P42771 |
GeneWikii | P16_(gene) |
GenomeRNAii | 1029 |
Pharosi | P42771, Tbio |
RNActi | P42771, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000147889, Expressed in adenohypophysis and 208 other tissues |
ExpressionAtlasi | P42771, baseline and differential |
Genevisiblei | P42771, HS |
Family and domain databases
Gene3Di | 1.25.40.20, 1 hit |
InterProi | View protein in InterPro IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf |
SUPFAMi | SSF48403, SSF48403, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CDN2A_HUMAN | |
Accessioni | P42771Primary (citable) accession number: P42771 Secondary accession number(s): A5X2G7 Q9NP05 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1995 |
Last sequence update: | July 15, 1998 | |
Last modified: | April 7, 2021 | |
This is version 228 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families