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P42771

- CD2A1_HUMAN

UniProt

P42771 - CD2A1_HUMAN

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Protein

Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3

Gene

CDKN2A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

GO - Molecular functioni

  1. cyclin-dependent protein serine/threonine kinase inhibitor activity Source: BHF-UCL
  2. NF-kappaB binding Source: BHF-UCL
  3. poly(A) RNA binding Source: UniProtKB
  4. protein kinase binding Source: BHF-UCL

GO - Biological processi

  1. cell cycle arrest Source: BHF-UCL
  2. cell cycle checkpoint Source: HGNC
  3. G1/S transition of mitotic cell cycle Source: BHF-UCL
  4. mitotic cell cycle Source: Reactome
  5. negative regulation of cell growth Source: BHF-UCL
  6. negative regulation of cell-matrix adhesion Source: BHF-UCL
  7. negative regulation of cell proliferation Source: UniProtKB
  8. negative regulation of cyclin-dependent protein serine/threonine kinase activity Source: BHF-UCL
  9. negative regulation of NF-kappaB transcription factor activity Source: BHF-UCL
  10. negative regulation of phosphorylation Source: BHF-UCL
  11. negative regulation of transcription, DNA-templated Source: UniProtKB
  12. positive regulation of cellular senescence Source: UniProtKB
  13. positive regulation of macrophage apoptotic process Source: BHF-UCL
  14. positive regulation of smooth muscle cell apoptotic process Source: BHF-UCL
  15. Ras protein signal transduction Source: BHF-UCL
  16. replicative senescence Source: BHF-UCL
  17. senescence-associated heterochromatin focus assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell cycle

Enzyme and pathway databases

ReactomeiREACT_169168. Senescence-Associated Secretory Phenotype (SASP).
REACT_169325. Oncogene Induced Senescence.
REACT_169436. Oxidative Stress Induced Senescence.
REACT_821. Cyclin D associated events in G1.

Names & Taxonomyi

Protein namesi
Recommended name:
Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3
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:CDKN2A
Synonyms:CDKN2, MTS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:1787. CDKN2A.

Subcellular locationi

Cytoplasm 1 Publication. Nucleus 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: HGNC
  2. cytosol Source: Reactome
  3. nucleus Source: HGNC
  4. senescence-associated heterochromatin focus Source: UniProtKB
Complete GO annotation...

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) [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 also may involve other sites.12 Publications
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191A → ATA in CMM2; loss of CDK4 binding.
VAR_058549
Natural varianti24 – 241R → C in CMM2.
VAR_001413
Natural varianti24 – 241R → P in CMM2. 1 Publication
VAR_001414
Natural varianti32 – 321L → P in CMM2. 1 Publication
VAR_001416
Natural varianti35 – 351G → A in CMM2; also found in a biliary tract tumor and a patient with uveal melanoma; partial loss of CDK4 binding. 1 Publication
VAR_001418
Natural varianti35 – 351G → E in CMM2. 1 Publication
VAR_001419
Natural varianti35 – 351G → V in CMM2; loss of CDK4 binding. 1 Publication
VAR_058551
Natural varianti48 – 481P → L in CMM2 and a head and neck tumor; somatic mutation. 1 Publication
VAR_001420
Natural varianti50 – 501Q → R in CMM2. 1 Publication
VAR_001423
Natural varianti53 – 531M → I in CMM2. 3 Publications
VAR_001424
Natural varianti59 – 591V → G in CMM2. 1 Publication
VAR_001427
Natural varianti62 – 621L → P in CMM2.
VAR_001430
Natural varianti67 – 671G → R in CMM2; partial loss of CDK4 binding. 1 Publication
VAR_058553
Natural varianti68 – 681A → L in CMM2; requires 2 nucleotide substitutions.
VAR_001432
Natural varianti71 – 711N → K in CMM2.
VAR_001437
Natural varianti74 – 741D → Y in CMM2; loss of CDK4 binding. 1 Publication
VAR_058555
Natural varianti77 – 771T → P in CMM2; loss of CDK4 binding. 1 Publication
VAR_058556
Natural varianti80 – 801R → P in CMM2; loss of CDK4 binding. 1 Publication
VAR_058557
Natural varianti81 – 811P → T in CMM2; loss of CDK4 binding. 1 Publication
VAR_058558
Natural varianti84 – 841D → Y in CMM2; also found in a lung and a prostate tumor. 1 Publication
Corresponds to variant rs11552822 [ dbSNP | Ensembl ].
VAR_001449
Natural varianti87 – 871R → P in CMM2; impairs the function. 1 Publication
VAR_001451
Natural varianti87 – 871R → W in CMM2; partial loss of CDK4 binding. 1 Publication
VAR_012317
Natural varianti89 – 891G → D in CMM2; somatic mutation. 1 Publication
VAR_001453
Natural varianti89 – 891G → S in CMM2.
VAR_001454
Natural varianti94 – 941L → Q in CMM2. 1 Publication
VAR_023604
Natural varianti97 – 971L → R in CMM2; loss of CDK4 binding. 1 Publication
VAR_001457
Natural varianti98 – 981H → P in CMM2.
VAR_001458
Natural varianti98 – 981H → Q in CMM2.
VAR_001459
Natural varianti99 – 991R → P in CMM2; loss of CDK4 binding.
VAR_001460
Natural varianti100 – 1001A → L in CMM2; requires 2 nucleotide substitutions.
VAR_001462
Natural varianti101 – 1011G → W in CMM2 and FAMMMPC; impairs the function. 2 Publications
VAR_001464
Natural varianti107 – 1071R → C in CMM2. 1 Publication
VAR_001466
Natural varianti112 – 1121R → RR in CMM2. 1 Publication
VAR_035068
Natural varianti117 – 1171L → M in CMM2; somatic mutation. 1 Publication
VAR_001471
Natural varianti118 – 1181A → T in CMM2. 1 Publication
VAR_001472
Natural varianti122 – 1221G → R in CMM2. 1 Publication
VAR_035069
Natural varianti126 – 1261V → D in CMM2; impairs the function. 2 Publications
VAR_001479
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 mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti101 – 1011G → W in CMM2 and FAMMMPC; impairs the function. 2 Publications
VAR_001464
Li-Fraumeni syndrome (LFS) [MIM:151623]: Autosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed (PubMed:8118819 and PubMed:8718514) and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti102 – 1021A → E in LFS; somatic mutation. 1 Publication
VAR_015818
Melanoma-astrocytoma syndrome (MASTS) [MIM:155755]: Characterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Disease mutation, Li-Fraumeni syndrome, Tumor suppressor

Organism-specific databases

MIMi151623. phenotype.
155601. phenotype.
155755. phenotype.
606719. phenotype.
Orphaneti618. 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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 156156Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3PRO_0000144177Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine2 Publications
Modified residuei7 – 71Phosphoserine1 Publication
Modified residuei8 – 81Phosphoserine1 Publication
Modified residuei140 – 1401Phosphoserine1 Publication
Modified residuei152 – 1521Phosphoserine1 Publication

Post-translational modificationi

Phosphorylation seems to increase interaction with CDK4.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP42771.
PaxDbiP42771.
PRIDEiP42771.

PTM databases

PhosphoSiteiP42771.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP42771.
CleanExiHS_CDKN2A.
ExpressionAtlasiP42771. baseline and differential.
GenevestigatoriP42771.

Organism-specific databases

HPAiCAB000093.
CAB000445.
CAB018232.

Interactioni

Subunit structurei

Heterodimer with CDK4 or CDK6. Predominant p16 complexes contained CDK6. Interacts (isoforms 1,2 and 4) 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

WithEntry#Exp.IntActNotes
CDK4P118029EBI-375053,EBI-295644
CDK6Q0053410EBI-375053,EBI-295663
CRELD2Q6UXH12EBI-375053,EBI-3935314
DEAF1O753982EBI-375053,EBI-718185
HNRNPUQ008392EBI-375053,EBI-351126
MCM6Q145664EBI-375053,EBI-374900
PCNAP120048EBI-375053,EBI-358311
TDRD7Q8NHU62EBI-375053,EBI-624505

Protein-protein interaction databases

BioGridi107463. 135 interactions.
DIPiDIP-6108N.
IntActiP42771. 49 interactions.
MINTiMINT-1201444.
STRINGi9606.ENSP00000355153.

Structurei

Secondary structure

1
156
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi4 – 63Combined sources
Helixi15 – 228Combined sources
Helixi25 – 328Combined sources
Turni33 – 353Combined sources
Beta strandi43 – 453Combined sources
Turni48 – 503Combined sources
Helixi57 – 648Combined sources
Turni65 – 673Combined sources
Turni75 – 773Combined sources
Helixi81 – 888Combined sources
Helixi91 – 10010Combined sources
Beta strandi109 – 1113Combined sources
Helixi114 – 1218Combined sources
Helixi124 – 1307Combined sources
Turni133 – 1353Combined sources
Turni141 – 1433Combined sources
Beta strandi145 – 1473Combined sources
Beta strandi150 – 1534Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1A5ENMR-A1-156[»]
1BI7X-ray3.40B1-156[»]
1DC2NMR-A1-156[»]
2A5ENMR-A1-156[»]
ProteinModelPortaliP42771.
SMRiP42771. Positions 1-156.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP42771.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati11 – 4030ANK 1Add
BLAST
Repeati44 – 7229ANK 2Add
BLAST
Repeati77 – 10630ANK 3Add
BLAST
Repeati110 – 13930ANK 4Add
BLAST

Sequence similaritiesi

Contains 4 ANK repeats.Curated

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiNOG42176.
GeneTreeiENSGT00390000004527.
HOGENOMiHOG000290191.
HOVERGENiHBG050870.
InParanoidiP42771.
KOiK06621.
OMAiIGNHLWV.
OrthoDBiEOG7TTQ94.
TreeFamiTF352389.

Family and domain databases

Gene3Di1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamiPF00023. Ank. 1 hit.
PF12796. Ank_2. 1 hit.
[Graphical view]
SMARTiSM00248. ANK. 2 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. Align

Note: Isoform 1 and isoform 4 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 4 (identifier: Q8N726-1) [UniParc]FASTAAdd to Basket

Also known as: p14ARF, p19ARF, ARF

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 6 (identifier: Q8N726-2) [UniParc]FASTAAdd to Basket

Also known as: smARF

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 AAB60645.1 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141D → E in a biliary tract tumor.
VAR_001408
Natural varianti16 – 161L → P in a biliary tract tumor and a familial melanoma.
VAR_001409
Natural varianti19 – 191A → ATA in CMM2; loss of CDK4 binding.
VAR_058549
Natural varianti20 – 201A → P in a lung tumor and melanoma.
VAR_001410
Natural varianti20 – 201A → S in a biliary tract tumor.
VAR_001411
Natural varianti23 – 231G → D in a pancreas tumor and a melanoma; loss of CDK4 binding.
VAR_001412
Natural varianti24 – 241R → C in CMM2.
VAR_001413
Natural varianti24 – 241R → P in CMM2. 1 Publication
VAR_001414
Natural varianti24 – 241R → Q Found in a patient with multiple primary melanoma; partial loss of CDK4 binding. 1 Publication
VAR_058550
Natural varianti26 – 261E → D in a biliary tract tumor.
VAR_001415
Natural varianti32 – 321L → P in CMM2. 1 Publication
VAR_001416
Natural varianti33 – 331E → D in a biliary tract tumor.
VAR_001417
Natural varianti35 – 351G → A in CMM2; also found in a biliary tract tumor and a patient with uveal melanoma; partial loss of CDK4 binding. 1 Publication
VAR_001418
Natural varianti35 – 351G → E in CMM2. 1 Publication
VAR_001419
Natural varianti35 – 351G → V in CMM2; loss of CDK4 binding. 1 Publication
VAR_058551
Natural varianti48 – 481P → L in CMM2 and a head and neck tumor; somatic mutation. 1 Publication
VAR_001420
Natural varianti49 – 491I → S in a biliary tract tumor.
VAR_001421
Natural varianti49 – 491I → T.1 Publication
VAR_001422
Natural varianti50 – 501Q → R in CMM2. 1 Publication
VAR_001423
Natural varianti53 – 531M → I in CMM2. 3 Publications
VAR_001424
Natural varianti56 – 561S → I Possible polymorphism.
VAR_001425
Natural varianti57 – 571A → V in pancreas carcinoma; somatic mutation; partial loss of CDK4 binding. 1 Publication
VAR_001426
Natural varianti58 – 581R → Q.
Corresponds to variant rs36204273 [ dbSNP | Ensembl ].
VAR_053027
Natural varianti59 – 591V → G in CMM2. 1 Publication
VAR_001427
Natural varianti60 – 601A → T.
VAR_001428
Natural varianti60 – 601A → V in melanoma; loss of CDK4 binding.
Corresponds to variant rs36204594 [ dbSNP | Ensembl ].
VAR_053028
Natural varianti61 – 622EL → DV.
VAR_001429
Natural varianti62 – 621L → P in CMM2.
VAR_001430
Natural varianti66 – 661H → Y in non-small cell lung carcinoma. 1 Publication
VAR_001431
Natural varianti67 – 715Missing in melanoma; loss of CDK4 binding. 1 Publication
VAR_058552
Natural varianti67 – 671G → R in CMM2; partial loss of CDK4 binding. 1 Publication
VAR_058553
Natural varianti68 – 681A → L in CMM2; requires 2 nucleotide substitutions.
VAR_001432
Natural varianti68 – 681A → T in an esophagus tumor.
VAR_001433
Natural varianti68 – 681A → V.1 Publication
VAR_001434
Natural varianti69 – 691E → G Found in some patients with melanoma; partial loss of CDK4 binding. 1 Publication
VAR_058554
Natural varianti69 – 691E → K in a bladder tumor.
VAR_001435
Natural varianti69 – 691E → V in a lung tumor.
VAR_001436
Natural varianti71 – 711N → K in CMM2.
VAR_001437
Natural varianti71 – 711N → S.1 Publication
VAR_001438
Natural varianti72 – 721C → G in an esophagus tumor.
VAR_001439
Natural varianti74 – 741D → N in a bladder tumor.
VAR_001440
Natural varianti74 – 741D → V in a biliary tract tumor.
VAR_001441
Natural varianti74 – 741D → Y in CMM2; loss of CDK4 binding. 1 Publication
VAR_058555
Natural varianti77 – 771T → P in CMM2; loss of CDK4 binding. 1 Publication
VAR_058556
Natural varianti80 – 801R → L in a head and neck tumor.
VAR_001442
Natural varianti80 – 801R → P in CMM2; loss of CDK4 binding. 1 Publication
VAR_058557
Natural varianti81 – 811P → L in some patients with melanoma; impairs the function.
Corresponds to variant rs11552823 [ dbSNP | Ensembl ].
VAR_001443
Natural varianti81 – 811P → T in CMM2; loss of CDK4 binding. 1 Publication
VAR_058558
Natural varianti83 – 831H → N in a lung tumor.
VAR_001445
Natural varianti83 – 831H → Q.
Corresponds to variant rs34968276 [ dbSNP | Ensembl ].
VAR_053029
Natural varianti83 – 831H → Y in a pancreas and a head and neck tumor.
VAR_001444
Natural varianti84 – 841D → E in a bladder tumor.
VAR_001446
Natural varianti84 – 841D → H in non-small cell lung carcinoma. 1 Publication
VAR_001447
Natural varianti84 – 841D → N in an esophagus, a head and neck and a lung tumor.
VAR_001448
Natural varianti84 – 841D → Y in CMM2; also found in a lung and a prostate tumor. 1 Publication
Corresponds to variant rs11552822 [ dbSNP | Ensembl ].
VAR_001449
Natural varianti85 – 851A → T.1 Publication
VAR_001450
Natural varianti87 – 871R → P in CMM2; impairs the function. 1 Publication
VAR_001451
Natural varianti87 – 871R → W in CMM2; partial loss of CDK4 binding. 1 Publication
VAR_012317
Natural varianti88 – 881E → D in a biliary tract tumor.
VAR_001452
Natural varianti89 – 891G → D in CMM2; somatic mutation. 1 Publication
VAR_001453
Natural varianti89 – 891G → S in CMM2.
VAR_001454
Natural varianti93 – 931T → A in non-small cell lung carcinoma. 1 Publication
VAR_001455
Natural varianti94 – 941L → Q in CMM2. 1 Publication
VAR_023604
Natural varianti95 – 951V → A in non-small cell lung carcinoma. 1 Publication
VAR_001456
Natural varianti97 – 971L → R in CMM2; loss of CDK4 binding. 1 Publication
VAR_001457
Natural varianti98 – 981H → P in CMM2.
VAR_001458
Natural varianti98 – 981H → Q in CMM2.
VAR_001459
Natural varianti99 – 991R → P in CMM2; loss of CDK4 binding.
VAR_001460
Natural varianti99 – 991R → Q in non-small cell lung carcinoma. 1 Publication
VAR_001461
Natural varianti99 – 991R → W.
Corresponds to variant rs34886500 [ dbSNP | Ensembl ].
VAR_053030
Natural varianti100 – 1001A → L in CMM2; requires 2 nucleotide substitutions.
VAR_001462
Natural varianti100 – 1001A → P.
VAR_001463
Natural varianti101 – 1011G → W in CMM2 and FAMMMPC; impairs the function. 2 Publications
VAR_001464
Natural varianti102 – 1021A → E in LFS; somatic mutation. 1 Publication
VAR_015818
Natural varianti102 – 1021A → T.
Corresponds to variant rs35741010 [ dbSNP | Ensembl ].
VAR_053031
Natural varianti104 – 1052Missing.
VAR_001465
Natural varianti107 – 1071R → C in CMM2. 1 Publication
VAR_001466
Natural varianti107 – 1071R → H.
VAR_001467
Natural varianti108 – 1081D → H in a bladder tumor.
VAR_001469
Natural varianti108 – 1081D → Y in a head and neck tumor.
VAR_001468
Natural varianti112 – 1121R → RR in CMM2. 1 Publication
VAR_035068
Natural varianti114 – 1141P → L in non-small cell lung carcinoma. 1 Publication
VAR_001470
Natural varianti114 – 1141P → S Found in some patients with melanoma; loss of CDK4 binding. 1 Publication
VAR_058559
Natural varianti117 – 1171L → M in CMM2; somatic mutation. 1 Publication
VAR_001471
Natural varianti118 – 1181A → T in CMM2. 1 Publication
VAR_001472
Natural varianti119 – 1191E → Q in a biliary tract tumor.
VAR_001473
Natural varianti120 – 1201E → A in non-small cell lung carcinoma. 1 Publication
VAR_001474
Natural varianti120 – 1201E → K in non-small cell lung carcinoma. 1 Publication
VAR_001475
Natural varianti122 – 1221G → R in CMM2. 1 Publication
VAR_035069
Natural varianti122 – 1221G → S in a biliary tract tumor.
VAR_001476
Natural varianti123 – 1231H → Q in leukemia.
Corresponds to variant rs6413463 [ dbSNP | Ensembl ].
VAR_001477
Natural varianti124 – 1241R → C.
Corresponds to variant rs34170727 [ dbSNP | Ensembl ].
VAR_053032
Natural varianti124 – 1241R → H in an esophagus tumor.
VAR_001478
Natural varianti126 – 1261V → D in CMM2; impairs the function. 2 Publications
VAR_001479
Natural varianti127 – 1271A → S in squamous cell carcinoma. 1 Publication
Corresponds to variant rs6413464 [ dbSNP | Ensembl ].
VAR_001480
Natural varianti132 – 1321A → P in non-small cell lung carcinoma. 1 Publication
VAR_001481
Natural varianti134 – 1341A → V in non-small cell lung carcinoma. 1 Publication
VAR_001482
Natural varianti142 – 1421H → Y in non-small cell lung carcinoma. 1 Publication
VAR_001483
Natural varianti144 – 1441R → C in squamous cell carcinoma. 1 Publication
VAR_001484
Natural varianti148 – 1481A → T.6 Publications
Corresponds to variant rs3731249 [ dbSNP | Ensembl ].
VAR_001486
Natural varianti150 – 1501G → V in non-small cell lung carcinoma. 1 Publication
VAR_001487

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5151Missing in isoform 2. CuratedVSP_015864Add
BLAST
Alternative sequencei52 – 11665MMMGS…RLPVD → GRRSAAGAGDGGRLWRTKFA GELESGSASILRKKGRLPGE FSEGVCNHRPPPGDALGAWE TKEEE in isoform 3. 1 PublicationVSP_015865Add
BLAST
Alternative sequencei117 – 15640Missing in isoform 3. 1 PublicationVSP_015866Add
BLAST
Alternative sequencei153 – 1564DIPD → EMIGNHLWVCRSRHA in isoform 5. 1 PublicationVSP_043577

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. Translation: CAH70600.1.
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.
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]
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.3. human. [P42771-1]
uc010miu.3. human. [P42771-4]

Polymorphism databases

DMDMi3041660.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. Translation: CAH70600.1 .
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 ]
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.
XP_005251400.1. XM_005251343.1. [P42771-2 ]
UniGenei Hs.512599.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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 [» ]
ProteinModelPortali P42771.
SMRi P42771. Positions 1-156.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107463. 135 interactions.
DIPi DIP-6108N.
IntActi P42771. 49 interactions.
MINTi MINT-1201444.
STRINGi 9606.ENSP00000355153.

PTM databases

PhosphoSitei P42771.

Polymorphism databases

DMDMi 3041660.

Proteomic databases

MaxQBi P42771.
PaxDbi P42771.
PRIDEi P42771.

Protocols and materials databases

DNASUi 1029.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000304494 ; ENSP00000307101 ; ENSG00000147889 . [P42771-1 ]
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 uc003zpk.3. human. [P42771-1 ]
uc010miu.3. human. [P42771-4 ]

Organism-specific databases

CTDi 1029.
GeneCardsi GC09M021957.
HGNCi HGNC:1787. CDKN2A.
HPAi CAB000093.
CAB000445.
CAB018232.
MIMi 151623. phenotype.
155601. phenotype.
155755. phenotype.
600160. gene.
606719. phenotype.
neXtProti NX_P42771.
Orphaneti 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.
PharmGKBi PA106.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG42176.
GeneTreei ENSGT00390000004527.
HOGENOMi HOG000290191.
HOVERGENi HBG050870.
InParanoidi P42771.
KOi K06621.
OMAi IGNHLWV.
OrthoDBi EOG7TTQ94.
TreeFami TF352389.

Enzyme and pathway databases

Reactomei REACT_169168. Senescence-Associated Secretory Phenotype (SASP).
REACT_169325. Oncogene Induced Senescence.
REACT_169436. Oxidative Stress Induced Senescence.
REACT_821. Cyclin D associated events in G1.

Miscellaneous databases

ChiTaRSi CDKN2A. human.
EvolutionaryTracei P42771.
GeneWikii P16_(gene).
GenomeRNAii 1029.
NextBioi 4323.
PROi P42771.
SOURCEi Search...

Gene expression databases

Bgeei P42771.
CleanExi HS_CDKN2A.
ExpressionAtlasi P42771. baseline and differential.
Genevestigatori P42771.

Family and domain databases

Gene3Di 1.25.40.20. 1 hit.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view ]
Pfami PF00023. Ank. 1 hit.
PF12796. Ank_2. 1 hit.
[Graphical view ]
SMARTi SM00248. ANK. 2 hits.
[Graphical view ]
SUPFAMi SSF48403. SSF48403. 1 hit.
PROSITEi PS50297. ANK_REP_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4."
    Serrano M., Hannon G.J., Beach D.
    Nature 366:704-707(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Tissue-specific alternative splicing in the human INK4a/ARF cell cycle regulatory locus."
    Robertson K.D., Jones P.A.
    Oncogene 18:3810-3820(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY.
  3. "Prevalent involvement of illegitimate V(D)J recombination in chromosome 9p21 deletions in lymphoid leukemia."
    Kitagawa Y., Inoue K., Sasaki S., Hayashi Y., Matsuo Y., Lieber M.R., Mizoguchi H., Yokota J., Kohno T.
    J. Biol. Chem. 277:46289-46297(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Human p16gamma, a novel transcriptional variant of p16(INK4A), coexpresses with p16(INK4A) in cancer cells and inhibits cell-cycle progression."
    Lin Y.C., Diccianni M.B., Kim Y., Lin H.H., Lee C.H., Lin R.J., Joo S.H., Li J., Chuang T.J., Yang A.S., Kuo H.H., Tsai M.D., Yu A.L.
    Oncogene 26:7017-7027(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), ALTERNATIVE SPLICING.
  5. NIEHS SNPs program
    Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  6. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "Regulation of p16CDKN2 expression and its implications for cell immortalization and senescence."
    Hara E., Smith R., Parry D., Tahara H., Stone S., Peters G.
    Mol. Cell. Biol. 16:859-867(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-20.
  9. "Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers."
    Nobori T., Miura K., Wu D.J., Lois A., Takabayashi K., Carson D.A.
    Nature 368:753-756(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 51-156.
  10. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 51-152.
  11. Cited for: FUNCTION.
  12. "Phosphorylation of p16INK4A correlates with Cdk4 association."
    Gump J., Stokoe D., McCormick F.
    J. Biol. Chem. 278:6619-6622(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-7; SER-8; SER-140 AND SER-152.
  13. "Regulated activating Thr172 phosphorylation of cyclin-dependent kinase 4(CDK4): its relationship with cyclins and CDK 'inhibitors'."
    Bockstaele L., Kooken H., Libert F., Paternot S., Dumont J.E., de Launoit Y., Roger P.P., Coulonval K.
    Mol. Cell. Biol. 26:5070-5085(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CDK4, FUNCTION.
  14. "Identification and characterization of a novel protein ISOC2 that interacts with p16INK4a."
    Huang X., Shi Z., Wang W., Bai J., Chen Z., Xu J., Zhang D., Fu S.
    Biochem. Biophys. Res. Commun. 361:287-293(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ISOC2, SUBCELLULAR LOCATION.
  15. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  16. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  17. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  18. "Structural basis for inhibition of the cyclin-dependent kinase Cdk6 by the tumour suppressor p16INK4a."
    Russo A.A., Tong L., Lee J.O., Jeffrey P.D., Pavletich N.P.
    Nature 395:237-243(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF COMPLEX WITH CDK6.
  19. "Tumor suppressor INK4: comparisons of conformational properties between p16(INK4A) and p18(INK4C)."
    Yuan C., Li J., Selby T.L., Byeon I.-J., Tsai M.-D.
    J. Mol. Biol. 294:201-211(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR.
  20. "Tumor suppressor INK4: refinement of p16INK4A structure and determination of p15INK4B structure by comparative modeling and NMR data."
    Yuan C., Selby T.L., Li J., Byeon I.J., Tsai M.D.
    Protein Sci. 9:1120-1128(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR.
  21. "CDKN2 mutations in melanoma."
    Dracopoli N.C., Fountain J.W.
    Cancer Surv. 26:115-132(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON MELANOMA VARIANTS.
  22. "CDKN2A (p16INK4A) somatic and germline mutations."
    Smith-Soerensen B., Hovig E.
    Hum. Mutat. 7:294-303(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  23. "Somatic mutations of the MTS (multiple tumor suppressor) 1/CDK4l (cyclin-dependent kinase-4 inhibitor) gene in human primary non-small cell lung carcinomas."
    Hayashi N., Sugimoto Y., Tsuchiya E., Ogawa M., Nakamura Y.
    Biochem. Biophys. Res. Commun. 202:1426-1430(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NON-SMALL CELL LUNG CARCINOMA TYR-66; HIS-84; ALA-93; ALA-95; GLN-99; LEU-114; ALA-120; LYS-120; PRO-132; VAL-134; TYR-142 AND VAL-150.
  24. Cited for: VARIANTS CMM2 PRO-87; TRP-101 AND ASP-126, VARIANTS THR-49; SER-71 AND THR-148.
  25. "The MTS1 gene is frequently mutated in primary human esophageal tumors."
    Zhou X., Tarmin L., Yin J., Jiang H.-Y., Suzuki H., Rhyu M.-G., Abraham J.M., Meltzer S.J.
    Oncogene 9:3737-3741(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SQUAMOUS CELL CARCINOMA SER-127 AND CYS-144.
  26. "Mutations in the p16INK4/MTS1/CDKN2, p15INK4B/MTS2, and p18 genes in primary and metastatic lung cancer."
    Okamoto A., Hussain S.P., Hagiwara K., Spillare E.A., Rusin M.R., Demetrick D.J., Serrano M., Hannon G.J., Shiseki M., Zariwala M., Xiong Y., Beach D.H., Yokota J., Harris C.C.
    Cancer Res. 55:1448-1451(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS.
  27. Cited for: VARIANTS CMM2 PRO-32; ALA-35; GLU-35; ARG-50 AND ILE-53, VARIANT THR-148.
  28. Cited for: CHARACTERIZATION OF VARIANTS THR-49; SER-71; LEU-81; PRO-87; TRP-101; ASP-126 AND THR-148.
  29. "Novel germline p16 mutation in familial malignant melanoma in southern Sweden."
    Borg A., Johannsson U., Johannsson O., Haakansson S., Westerdahl J., Maasbaeck A., Olsson H., Ingvar C.
    Cancer Res. 56:2497-2500(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMM2 ARG-112 INS, VARIANT THR-148.
  30. "Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population."
    Fitzgerald M.G., Harkin D.P., Silva-Arrieta S., Macdonald D.J., Lucchina L.C., Unsal H., O'Neill E., Koh J., Finkelstein D.M., Isselbacher K.J., Sober A.J., Haber D.A.
    Proc. Natl. Acad. Sci. U.S.A. 93:8541-8545(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMM2 ILE-53 AND CYS-107, VARIANTS VAL-68; THR-85 AND THR-148.
  31. Cited for: VARIANTS CMM2 PRO-24; ILE-53 AND THR-118, VARIANT THR-148.
  32. "Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France."
    Soufir N., Avril M.-F., Chompret A., Demenais F., Bombled J., Spatz A., Stoppa-Lyonnet D., Benard J., Bressac-De Paillerets B.
    Hum. Mol. Genet. 7:209-216(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMM2.
  33. "Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas."
    Gretarsdottir S., Olafsdottir G.H., Borg A.
    Hum. Mutat. 12:212-212(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMM2 LEU-48; ASP-89 AND MET-117, VARIANT PANCREAS CARCINOMA VAL-57, VARIANT THR-148.
  34. "Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family."
    Gueran S., Tunca Y., Imirzalioglu N.
    Cancer Genet. Cytogenet. 113:145-151(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LFS GLU-102.
  35. "A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families."
    Goldstein A.M., Liu L., Shennan M.G., Hogg D., Tucker M.A., Struewing J.P.
    Br. J. Cancer 85:527-530(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMM2 ASP-126.
  36. "A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family."
    Randerson-Moor J.A., Harland M., Williams S., Cuthbert-Heavens D., Sheridan E., Aveyard J., Sibley K., Whitaker L., Knowles M., Bishop J.N., Bishop D.T.
    Hum. Mol. Genet. 10:55-62(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MASTS.
  37. Cited for: VARIANT CMM2 ARG-122.
  38. "CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia."
    Ruiz A., Puig S., Malvehy J., Lazaro C., Lynch M., Gimenez-Arnau A.M., Puig L., Sanchez-Conejo J., Estivill X., Castel T.
    J. Med. Genet. 36:490-493(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMM2 GLY-59; TYR-84; TRP-87 AND TRP-101.
  39. "Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma."
    Hearle N., Damato B.E., Humphreys J., Wixey J., Green H., Stone J., Easton D.F., Houlston R.S.
    Invest. Ophthalmol. Vis. Sci. 44:458-462(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO UVEAL MELANOMA.
  40. "A novel L94Q mutation in the CDKN2A gene in a melanoma kindred."
    Avbelj M., Hocevar M., Trebusak-Podkrajsek K., Krzisnik C., Battelino T.
    Melanoma Res. 13:567-570(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMM2 GLN-94.
  41. "Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients."
    Kannengiesser C., Brookes S., del Arroyo A.G., Pham D., Bombled J., Barrois M., Mauffret O., Avril M.F., Chompret A., Lenoir G.M., Sarasin A., Peters G., Bressac-de Paillerets B.
    Hum. Mutat. 30:564-574(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMM2 THR-ALA-19 INS; VAL-35; ARG-67; 67-GLY--ASN-71 DEL; TYR-74; PRO-77; PRO-80; THR-81 AND ARG-97, VARIANTS GLN-24; GLY-69 AND SER-114, CHARACTERIZATION OF VARIANTS.

Entry informationi

Entry nameiCD2A1_HUMAN
AccessioniPrimary (citable) accession number: P42771
Secondary accession number(s): A5X2G7
, D3DRK1, O95440, Q15191, Q5VVJ5, Q96B52, Q9NP05
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: July 15, 1998
Last modified: November 26, 2014
This is version 168 of the entry and version 2 of the sequence. [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

External Data

Dasty 3