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P42771

- CD2A1_HUMAN

UniProt

P42771 - CD2A1_HUMAN

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
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    • History
      Entry version 166 (01 Oct 2014)
      Sequence version 2 (15 Jul 1998)
      Previous versions | rss
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    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 binding Source: BHF-UCL
    5. 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

    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

    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

    ArrayExpressiP42771.
    BgeeiP42771.
    CleanExiHS_CDKN2A.
    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 – 63
    Helixi15 – 228
    Helixi25 – 328
    Turni33 – 353
    Beta strandi43 – 453
    Turni48 – 503
    Helixi57 – 648
    Turni65 – 673
    Turni75 – 773
    Helixi81 – 888
    Helixi91 – 10010
    Beta strandi109 – 1113
    Helixi114 – 1218
    Helixi124 – 1307
    Turni133 – 1353
    Turni141 – 1433
    Beta strandi145 – 1473
    Beta strandi150 – 1534

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    HOGENOMiHOG000290191.
    HOVERGENiHBG050870.
    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

    MEPAAGSSME PSADWLATAA ARGRVEEVRA LLEAGALPNA PNSYGRRPIQ    50
    VMMMGSARVA ELLLLHGAEP NCADPATLTR PVHDAAREGF LDTLVVLHRA 100
    GARLDVRDAW GRLPVDLAEE LGHRDVARYL RAAAGGTRGS NHARIDAAEG 150
    PSDIPD 156
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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.
    HOGENOMi HOG000290191.
    HOVERGENi HBG050870.
    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

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

    Gene expression databases

    ArrayExpressi P42771.
    Bgeei P42771.
    CleanExi HS_CDKN2A.
    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

    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: October 1, 2014
    This is version 166 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