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UniProtKB - P42771 (CDN2A_HUMAN)

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Protein

Cyclin-dependent kinase inhibitor 2A

Gene

CDKN2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.2 Publications

Caution

The proteins described here are encoded by the gene CDKN2A, but are completely unrelated in term of sequence and function to tumor suppressor ARF (AC Q8N726) which is encoded by the same gene.Curated

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
View the complete GO annotation on QuickGO ...

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 proliferation Source: BHF-UCL
  • negative regulation of cyclin-dependent protein serine/threonine kinase activity Source: BHF-UCL
  • negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in 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
  • replicative senescence Source: BHF-UCL
  • senescence-associated heterochromatin focus assembly Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell cycle

Enzyme and pathway databases

ReactomeiR-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
SIGNORiP42771

Names & Taxonomyi

Protein namesi
Recommended name:
Cyclin-dependent kinase inhibitor 2AImported
Alternative 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
Name:CDKN2AImported
Synonyms:CDKN2, MTS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000147889.16
HGNCiHGNC:1787 CDKN2A
MIMi600160 gene
neXtProtiNX_P42771

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.
Melanoma, cutaneous malignant 2 (CMM2)12 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.
See also OMIM:155601
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05854919A → ATA in CMM2; loss of CDK4 binding. 1
Natural variantiVAR_00141324R → C in CMM2. 1
Natural variantiVAR_00141424R → P in CMM2. 1 PublicationCorresponds to variant dbSNP:rs104894097EnsemblClinVar.1
Natural variantiVAR_00141632L → P in CMM2. 1 PublicationCorresponds to variant dbSNP:rs878853650EnsemblClinVar.1
Natural variantiVAR_00141835G → 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_00141935G → E in CMM2. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar.1
Natural variantiVAR_05855135G → V in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_00142048P → L in CMM2; also found in head and neck tumor; somatic mutation. 1 Publication1
Natural variantiVAR_00142350Q → R in CMM2. 1 PublicationCorresponds to variant dbSNP:rs587778189EnsemblClinVar.1
Natural variantiVAR_00142453M → I in CMM2. 3 PublicationsCorresponds to variant dbSNP:rs104894095EnsemblClinVar.1
Natural variantiVAR_00142759V → G in CMM2. 1 PublicationCorresponds to variant dbSNP:rs104894099EnsemblClinVar.1
Natural variantiVAR_00143062L → P in CMM2. 1
Natural variantiVAR_05855367G → R in CMM2; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs758389471EnsemblClinVar.1
Natural variantiVAR_00143268A → L in CMM2; requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs876658534EnsemblClinVar.1
Natural variantiVAR_00143771N → K in CMM2. 1
Natural variantiVAR_05855574D → Y in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs760640852Ensembl.1
Natural variantiVAR_05855677T → P in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_05855780R → P in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_05855881P → T in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_00144984D → Y in CMM2; also found in a lung tumor and a prostate tumor. 1 PublicationCorresponds to variant dbSNP:rs11552822EnsemblClinVar.1
Natural variantiVAR_00145187R → P in CMM2; impairs the function. 2 PublicationsCorresponds to variant dbSNP:rs878853647EnsemblClinVar.1
Natural variantiVAR_01231787R → W in CMM2; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs749714198EnsemblClinVar.1
Natural variantiVAR_00145389G → D in CMM2; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137854599EnsemblClinVar.1
Natural variantiVAR_00145489G → S in CMM2. Corresponds to variant dbSNP:rs137854597EnsemblClinVar.1
Natural variantiVAR_02360494L → Q in CMM2. 1 Publication1
Natural variantiVAR_00145797L → R in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_00145898H → P in CMM2. 1
Natural variantiVAR_00145998H → Q in CMM2. 1
Natural variantiVAR_00146099R → P in CMM2; loss of CDK4 binding. 1
Natural variantiVAR_001462100A → L in CMM2; requires 2 nucleotide substitutions. 1
Natural variantiVAR_001466107R → C in CMM2. 1 Publication1
Natural variantiVAR_035068112R → RR in CMM2. 1 Publication1
Natural variantiVAR_001471117L → M in CMM2; somatic mutation. 1 Publication1
Natural variantiVAR_001472118A → T in CMM2. 1 Publication1
Natural variantiVAR_035069122G → R in CMM2. 1 PublicationCorresponds to variant dbSNP:rs113798404EnsemblClinVar.1
Natural variantiVAR_001479126V → D in CMM2; impairs the function. 3 PublicationsCorresponds to variant dbSNP:rs104894098EnsemblClinVar.1
Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:606719
Melanoma-astrocytoma syndrome (MASTS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma.
See also OMIM:155755

Keywords - Diseasei

Disease mutation, Li-Fraumeni syndrome, Tumor suppressor

Organism-specific databases

DisGeNETi1029
MalaCardsiCDKN2A
MIMi155601 phenotype
155755 phenotype
606719 phenotype
OpenTargetsiENSG00000147889
Orphaneti404560 Familial atypical multiple mole melanoma syndrome
618 Familial melanoma
1333 Familial pancreatic carcinoma
252206 Melanoma and neural system tumor syndrome
51013 Melanoma-pancreatic cancer syndrome
99860 Precursor B-cell acute lymphoblastic leukemia
99861 Precursor T-cell acute lymphoblastic leukemia
PharmGKBiPA106

Polymorphism and mutation databases

BioMutaiMTAP
DMDMi3041660

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001441771 – 156Cyclin-dependent kinase inhibitor 2AAdd BLAST156

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei7Phosphoserine1 Publication1
Modified residuei8Phosphoserine1 Publication1
Modified residuei140Phosphoserine1 Publication1
Modified residuei152Phosphoserine1 Publication1

Post-translational modificationi

Phosphorylation seems to increase interaction with CDK4.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP42771
PaxDbiP42771
PeptideAtlasiP42771
PRIDEiP42771
ProteomicsDBi55551
55552 [P42771-2]
55553 [P42771-3]
55554 [P42771-4]
TopDownProteomicsiP42771-1 [P42771-1]

PTM databases

iPTMnetiP42771
PhosphoSitePlusiP42771

Expressioni

Tissue specificityi

Widely expressed but not detected in brain or skeletal muscle. Isoform 3 is pancreas-specific.1 Publication

Gene expression databases

BgeeiENSG00000147889
CleanExiHS_CDKN2A
ExpressionAtlasiP42771 baseline and differential
GenevisibleiP42771 HS

Organism-specific databases

HPAiCAB000093
CAB000445
CAB018232

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 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • NF-kappaB binding Source: BHF-UCL
  • protein kinase binding Source: BHF-UCL
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi107463, 183 interactors
CORUMiP42771
DIPiDIP-6108N
IntActiP42771, 73 interactors
MINTiP42771
STRINGi9606.ENSP00000394932

Structurei

Secondary structure

1156
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi4 – 6Combined sources3
Helixi15 – 22Combined sources8
Helixi25 – 32Combined sources8
Turni33 – 35Combined sources3
Beta strandi43 – 45Combined sources3
Turni48 – 50Combined sources3
Helixi57 – 64Combined sources8
Turni65 – 67Combined sources3
Turni75 – 77Combined sources3
Helixi81 – 88Combined sources8
Helixi91 – 100Combined sources10
Beta strandi109 – 111Combined sources3
Helixi114 – 121Combined sources8
Helixi124 – 130Combined sources7
Turni133 – 135Combined sources3
Turni141 – 143Combined sources3
Beta strandi145 – 147Combined sources3
Beta strandi150 – 153Combined sources4

3D structure databases

ProteinModelPortaliP42771
SMRiP42771
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP42771

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati11 – 40ANK 1Add BLAST30
Repeati44 – 72ANK 2Add BLAST29
Repeati77 – 106ANK 3Add BLAST30
Repeati110 – 139ANK 4Add BLAST30

Sequence similaritiesi

Belongs to the CDKN2 cyclin-dependent kinase inhibitor family.Curated

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00390000004527
HOGENOMiHOG000290191
HOVERGENiHBG050870
InParanoidiP42771
KOiK06621
OMAiMMMGSSE
TreeFamiTF352389

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Isoform 1 and isoform tumor suppressor ARF arise due to the use of two alternative first exons joined to a common exon 2 at the same acceptor site but in different reading frames, resulting in two completely different isoforms.
Isoform 1 (identifier: P42771-1) [UniParc]FASTAAdd to basket
Also known as: p16INK4a

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:156
Mass (Da):16,533
Last modified:July 15, 1998 - v2
Checksum:iE59C0E6174B48255
GO
Isoform 2 (identifier: P42771-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-51: Missing.

Show »
Length:105
Mass (Da):11,215
Checksum:i7F3FA00737E14285
GO
Isoform 3 (identifier: P42771-3) [UniParc]FASTAAdd to basket
Also known as: p12

The sequence of this isoform differs from the canonical sequence as follows:
     52-116: MMMGSARVAE...RDAWGRLPVD → GRRSAAGAGD...LGAWETKEEE
     117-156: Missing.

Show »
Length:116
Mass (Da):12,213
Checksum:iF44DBC8E0EB3A7C8
GO
Isoform tumor suppressor ARF (identifier: Q8N726-1) [UniParc]FASTAAdd to basket
Also known as: p14ARF, p19ARF
The sequence of this isoform can be found in the external entry Q8N726.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:132
Mass (Da):13,903
GO
Isoform 5 (identifier: P42771-4) [UniParc]FASTAAdd to basket
Also known as: p16gamma

The sequence of this isoform differs from the canonical sequence as follows:
     153-156: DIPD → EMIGNHLWVCRSRHA

Note: Barely detectable in non-tumor cells.
Show »
Length:167
Mass (Da):17,883
Checksum:i07328B24CC7ECC61
GO
Isoform smARF (identifier: Q8N726-2) [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry Q8N726.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:85
Mass (Da):8,731
GO

Sequence cautioni

The sequence AAB60645 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00140814D → E in a biliary tract tumor. 1
Natural variantiVAR_00140916L → P in a biliary tract tumor and a familial melanoma. 1
Natural variantiVAR_05854919A → ATA in CMM2; loss of CDK4 binding. 1
Natural variantiVAR_00141020A → P in a lung tumor and melanoma. 1
Natural variantiVAR_00141120A → S in a biliary tract tumor. Corresponds to variant dbSNP:rs760065045Ensembl.1
Natural variantiVAR_00141223G → D in a pancreas tumor and a melanoma; loss of CDK4 binding. Corresponds to variant dbSNP:rs1064794292Ensembl.1
Natural variantiVAR_00141324R → C in CMM2. 1
Natural variantiVAR_00141424R → P in CMM2. 1 PublicationCorresponds to variant dbSNP:rs104894097EnsemblClinVar.1
Natural variantiVAR_05855024R → Q Found in a patient with multiple primary melanoma; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs104894097EnsemblClinVar.1
Natural variantiVAR_00141526E → D in a biliary tract tumor. 1
Natural variantiVAR_00141632L → P in CMM2. 1 PublicationCorresponds to variant dbSNP:rs878853650EnsemblClinVar.1
Natural variantiVAR_00141733E → D in a biliary tract tumor. 1
Natural variantiVAR_00141835G → 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_00141935G → E in CMM2. 1 PublicationCorresponds to variant dbSNP:rs746834149EnsemblClinVar.1
Natural variantiVAR_05855135G → V in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_00142048P → L in CMM2; also found in head and neck tumor; somatic mutation. 1 Publication1
Natural variantiVAR_00142149I → S in a biliary tract tumor. 1
Natural variantiVAR_00142249I → T2 PublicationsCorresponds to variant dbSNP:rs199907548EnsemblClinVar.1
Natural variantiVAR_00142350Q → R in CMM2. 1 PublicationCorresponds to variant dbSNP:rs587778189EnsemblClinVar.1
Natural variantiVAR_00142453M → I in CMM2. 3 PublicationsCorresponds to variant dbSNP:rs104894095EnsemblClinVar.1
Natural variantiVAR_00142556S → I Possible polymorphism. Corresponds to variant dbSNP:rs104894109EnsemblClinVar.1
Natural variantiVAR_00142657A → V in pancreas carcinoma; somatic mutation; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs372266620EnsemblClinVar.1
Natural variantiVAR_00142759V → G in CMM2. 1 PublicationCorresponds to variant dbSNP:rs104894099EnsemblClinVar.1
Natural variantiVAR_00142860A → T. Corresponds to variant dbSNP:rs769382085EnsemblClinVar.1
Natural variantiVAR_05302860A → V in melanoma; loss of CDK4 binding. Corresponds to variant dbSNP:rs36204594Ensembl.1
Natural variantiVAR_00142961 – 62EL → DV. 2
Natural variantiVAR_00143062L → P in CMM2. 1
Natural variantiVAR_00143166H → Y in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_05855267 – 71Missing in melanoma; loss of CDK4 binding. 1 Publication5
Natural variantiVAR_05855367G → R in CMM2; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs758389471EnsemblClinVar.1
Natural variantiVAR_00143268A → L in CMM2; requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs876658534EnsemblClinVar.1
Natural variantiVAR_00143368A → T in an esophagus tumor. 1
Natural variantiVAR_00143468A → V1 PublicationCorresponds to variant dbSNP:rs1060501260Ensembl.1
Natural variantiVAR_05855469E → G Found in some patients with melanoma; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs372670098EnsemblClinVar.1
Natural variantiVAR_00143569E → K in a bladder tumor. 1
Natural variantiVAR_00143669E → V in a lung tumor. 1
Natural variantiVAR_00143771N → K in CMM2. 1
Natural variantiVAR_00143871N → S2 PublicationsCorresponds to variant dbSNP:rs559848002EnsemblClinVar.1
Natural variantiVAR_00143972C → G in an esophagus tumor. 1
Natural variantiVAR_00144074D → N in a bladder tumor. 1
Natural variantiVAR_00144174D → V in a biliary tract tumor. 1
Natural variantiVAR_05855574D → Y in CMM2; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs760640852Ensembl.1
Natural variantiVAR_05855677T → P in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_00144280R → L in a head and neck tumor. 1
Natural variantiVAR_05855780R → P in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_00144381P → L in some patients with melanoma; impairs the function. 1 PublicationCorresponds to variant dbSNP:rs11552823Ensembl.1
Natural variantiVAR_05855881P → T in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_00144583H → N in a lung tumor. 1
Natural variantiVAR_05302983H → Q. Corresponds to variant dbSNP:rs34968276EnsemblClinVar.1
Natural variantiVAR_00144483H → Y in a pancreas tumor; also found in head and neck tumor. Corresponds to variant dbSNP:rs121913385EnsemblClinVar.1
Natural variantiVAR_00144684D → E in a bladder tumor. 1
Natural variantiVAR_00144784D → H in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_00144884D → 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_00144984D → Y in CMM2; also found in a lung tumor and a prostate tumor. 1 PublicationCorresponds to variant dbSNP:rs11552822EnsemblClinVar.1
Natural variantiVAR_00145085A → T1 PublicationCorresponds to variant dbSNP:rs878853646EnsemblClinVar.1
Natural variantiVAR_00145187R → P in CMM2; impairs the function. 2 PublicationsCorresponds to variant dbSNP:rs878853647EnsemblClinVar.1
Natural variantiVAR_01231787R → W in CMM2; partial loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs749714198EnsemblClinVar.1
Natural variantiVAR_00145288E → D in a biliary tract tumor. 1
Natural variantiVAR_00145389G → D in CMM2; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137854599EnsemblClinVar.1
Natural variantiVAR_00145489G → S in CMM2. Corresponds to variant dbSNP:rs137854597EnsemblClinVar.1
Natural variantiVAR_00145593T → A in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_02360494L → Q in CMM2. 1 Publication1
Natural variantiVAR_00145695V → A in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_00145797L → R in CMM2; loss of CDK4 binding. 1 Publication1
Natural variantiVAR_00145898H → P in CMM2. 1
Natural variantiVAR_00145998H → Q in CMM2. 1
Natural variantiVAR_00146099R → P in CMM2; loss of CDK4 binding. 1
Natural variantiVAR_00146199R → Q in non-small cell lung carcinoma. 1 PublicationCorresponds to variant dbSNP:rs754806883Ensembl.1
Natural variantiVAR_05303099R → W. Corresponds to variant dbSNP:rs34886500EnsemblClinVar.1
Natural variantiVAR_001462100A → L in CMM2; requires 2 nucleotide substitutions. 1
Natural variantiVAR_001463100A → P. 1
Natural variantiVAR_001464101G → W in CMM2 and FAMMMPC; impairs the function. 3 PublicationsCorresponds to variant dbSNP:rs104894094EnsemblClinVar.1
Natural variantiVAR_015818102A → E Found in seminoma and medulloblastoma tissues from Li-Fraumeni syndrome patients carrying a mutation in TP53; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs137854598Ensembl.1
Natural variantiVAR_053031102A → T. Corresponds to variant dbSNP:rs35741010EnsemblClinVar.1
Natural variantiVAR_001465104 – 105Missing . 2
Natural variantiVAR_001466107R → C in CMM2. 1 Publication1
Natural variantiVAR_001467107R → H. Corresponds to variant dbSNP:rs370823171EnsemblClinVar.1
Natural variantiVAR_001469108D → H in a bladder tumor. 1
Natural variantiVAR_001468108D → Y in a head and neck tumor. Corresponds to variant dbSNP:rs121913381EnsemblClinVar.1
Natural variantiVAR_035068112R → RR in CMM2. 1 Publication1
Natural variantiVAR_001470114P → L in non-small cell lung carcinoma. 1 PublicationCorresponds to variant dbSNP:rs121913386EnsemblClinVar.1
Natural variantiVAR_058559114P → S Found in some patients with melanoma; loss of CDK4 binding. 1 PublicationCorresponds to variant dbSNP:rs104894104Ensembl.1
Natural variantiVAR_001471117L → M in CMM2; somatic mutation. 1 Publication1
Natural variantiVAR_001472118A → T in CMM2. 1 Publication1
Natural variantiVAR_001473119E → Q in a biliary tract tumor. 1
Natural variantiVAR_001474120E → A in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_001475120E → K in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_035069122G → R in CMM2. 1 PublicationCorresponds to variant dbSNP:rs113798404EnsemblClinVar.1
Natural variantiVAR_001476122G → S in a biliary tract tumor. Corresponds to variant dbSNP:rs113798404EnsemblClinVar.1
Natural variantiVAR_001477123H → Q in leukemia. Corresponds to variant dbSNP:rs6413463EnsemblClinVar.1
Natural variantiVAR_053032124R → C. Corresponds to variant dbSNP:rs34170727EnsemblClinVar.1
Natural variantiVAR_001478124R → H in an esophagus tumor. Corresponds to variant dbSNP:rs747621669Ensembl.1
Natural variantiVAR_001479126V → D in CMM2; impairs the function. 3 PublicationsCorresponds to variant dbSNP:rs104894098EnsemblClinVar.1
Natural variantiVAR_001480127A → S in squamous cell carcinoma. 1 PublicationCorresponds to variant dbSNP:rs6413464EnsemblClinVar.1
Natural variantiVAR_001481132A → P in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_001482134A → V in non-small cell lung carcinoma. 1 PublicationCorresponds to variant dbSNP:rs757497674Ensembl.1
Natural variantiVAR_001483142H → Y in non-small cell lung carcinoma. 1 Publication1
Natural variantiVAR_001484144R → C in squamous cell carcinoma. 1 PublicationCorresponds to variant dbSNP:rs116150891EnsemblClinVar.1
Natural variantiVAR_001486148A → T7 PublicationsCorresponds to variant dbSNP:rs3731249EnsemblClinVar.1
Natural variantiVAR_001487150G → V in non-small cell lung carcinoma. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0158641 – 51Missing in isoform 2. CuratedAdd BLAST51
Alternative sequenceiVSP_01586552 – 116MMMGS…RLPVD → GRRSAAGAGDGGRLWRTKFA GELESGSASILRKKGRLPGE FSEGVCNHRPPPGDALGAWE TKEEE in isoform 3. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_015866117 – 156Missing in isoform 3. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_043577153 – 156DIPD → EMIGNHLWVCRSRHA in isoform 5. 1 Publication4

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: 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.
CCDSiCCDS56565.1 [P42771-4]
CCDS6510.1 [P42771-1]
PIRiJE0141
RefSeqiNP_000068.1, NM_000077.4 [P42771-1]
NP_001182061.1, NM_001195132.1 [P42771-4]
NP_478104.2, NM_058197.4
XP_005251400.1, XM_005251343.1 [P42771-2]
XP_011515981.1, XM_011517679.1 [P42771-2]
UniGeneiHs.512599

Genome annotation databases

EnsembliENST00000304494; ENSP00000307101; ENSG00000147889 [P42771-1]
ENST00000494262; ENSP00000464952; ENSG00000147889 [P42771-2]
ENST00000498124; ENSP00000418915; ENSG00000147889 [P42771-4]
ENST00000498628; ENSP00000467857; ENSG00000147889 [P42771-2]
ENST00000578845; ENSP00000467390; ENSG00000147889 [P42771-2]
GeneIDi1029
KEGGihsa:1029
UCSCiuc003zpk.4 human [P42771-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCDN2A_HUMAN
AccessioniPrimary (citable) accession number: P42771
Secondary accession number(s): A5X2G7
, D3DRK1, O95440, Q15191, Q5VVJ5, Q96B52, Q9NP05
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: July 15, 1998
Last modified: July 18, 2018
This is version 205 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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