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CDKN2A Gene

protein-coding   GIFtS: 69

GC09M021957
cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: CDKN2, MLM)
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Aliases &
Descriptions
for CDKN2A

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
ARF 1, 2
CDK4I 1, 2, 3
CDKN2 2, 3
CMM2 1, 2, 5
INK4 1, 2
INK4a 1, 2
MLM 2, 3, 5
MTS-1 3
MTS1 1, 2, 3, 5
OTTHUMP00000021147 2
OTTHUMP00000021148 2
P16 5
TP16 2
p14 1, 2
p14ARF 2, 3
p16 1, 2
p16-INK4 3
p16-INK4a 3
p16INK4 2
p16INK4A 3
p16INK4a 1, 2
p19 1, 2
p19ARF 3
Descriptions
CDK4 inhibitor p16-INK4 2
Cyclin-dependent kinase 4 inhibitor A 3
Multiple tumor suppressor 1 2, 3
cell cycle negative regulator beta 2
cyclin-dependent kinase inhibitor 2A 2
cyclin-dependent kinase inhibitor 2A (melanoma, p16,
inhibits CDK4) 2
cyclin-dependent kinase inhibitor p16 2
External Ids
HGNC: 17871
Entrez Gene: 10292
UniProtKB: P427713
UniProtKB: Q8N7263
Ensembl: ENSG000001478897
Search outside databases for aliases for CDKN2A gene

Previous GC identifers: GC09M022295 GC09M022168

Summaries
for CDKN2A

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for CDKN2A:
This gene generates several transcript variants which differ in their first exons. At least three
alternatively spliced variants encoding distinct proteins have been reported, two of which encode
structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining
transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene;
this transcript contains an alternate open reading frame (ARF) that specifies a protein which is
structurally unrelated to the products of the other variants. This ARF product functions as a
stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, MDM1, a
protein responsible for the degradation of p53. In spite of the structural and functional
differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the
regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in
cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and
is known to be an important tumor suppressor gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: CD2A2_HUMAN, Q8N726
Function: Capable of inducing cell cycle arrest in G1 and G2 phases. Acts as a tumor suppressor.
Binds to MDM2 and blocks its nucleocytoplasmic shuttling by sequestering it in the nucleolus. This
inhibits the oncogenic action of MDM2 by blocking MDM2-induced degradation of p53 and enhancing
p53-dependent transactivation and apoptosis. Also induces G2 arrest and apoptosis in a
p53-independent manner by preventing the activation of cyclin B1/CDC2 complexes. Binds to BCL6 and
down-regulates BCL6-induced transcriptional repression. Binds to E2F1 and MYC and blocks their
transcriptional activator activity but has no effect on MYC transcriptional repression. Binds to
TOP1/TOPOI and stimulates its activity. This complex binds to rRNA gene promoters and may play a
role in rRNA transcription and/or maturation. Interacts with NPM1/B23 and promotes its
polyubiquitination and degradation, thus inhibiting rRNA processing. Interacts with UBE2I/UBC9 and
enhances sumoylation of a number of its binding partners including MDM2 and E2F1. Binds to HUWE1
and represses its ubiquitin ligase activity. May play a role in controlling cell proliferation and
apoptosis during mammary gland development

Gene Wiki entry for CDKN2A (P16)

Genomic Location
for CDKN2A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the CDKN2A gene  

Entrez Gene cytogenetic band: 9p21   Ensembl cytogenetic band:  9p21.3   HGNC cytogenetic band: 9p21

CDKN2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M021957:     (about GC identifiers)

Start:
 21,957,751 bp from pter
End:
 21,984,490 bp from pter
Size:
 26,740 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000009.10  NT_008413.17  

Proteins
for CDKN2A

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: CD2A1_HUMAN, P42771 (See protein sequence)
Recommended Name: Cyclin-dependent kinase inhibitor 2A, isoforms 1/2/3  
Size: 156 amino acids; 16533 Da
Subunit: Heterodimer with CDK4 or CDK6. Isoform 3 does not bind to CDK4
PDB structures from and Proteopedia :
1A5E (3D)    1BI7 (3D)    1DC2 (3D)    2A5E (3D)    
Secondary accessions: O95440 Q15191 Q5VVJ5 Q96B52 Q9NP05
Alternative splicing: 4 isoforms:  P42771-1   P42771-2   P42771-3   Q8N726-1   (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)

UniProtKB/Swiss-Prot: CD2A2_HUMAN, Q8N726 (See protein sequence)

Recommended Name: Cyclin-dependent kinase inhibitor 2A, isoform 4  
Size: 173 amino acids; 18006 Da
Subunit: Does not interact with cyclins, CDC2, CDK2, CDK4, CDK5 or CDK6. Binds to BCL6, E2F1,
HUWE1, MDM2, MYC, NPM1/B23, TOP1/TOPOI and UBE2I/UBC9. Interacts with TBRG1. Interacts with
CDKN2AIP and E4F1
Subcellular location: Nucleus, nucleolus (By similarity)
Secondary accessions: Q13195 Q13399 Q16360 Q7KZR9
Alternative splicing: 4 isoforms:  Q8N726-1   P42771-1   P42771-2   P42771-3   (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)

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (3 alternative transcripts): 
    NP_000068.1  NP_478102.1  NP_478104.2  


    ENSEMBL proteins: 
    ENSP00000369496 ENSP00000369495 ENSP00000355153 ENSP00000307101 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Sigma-Aldrich Proteins for CDKN2A  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Tumour suppressors, CDKN2A/p14ARF, CDKN2A/p16INK4a )
    Human Recombinant Proteins from Abnova (CDKN2A)
                  OriGene Purified Recombinant Human Protein: CDKN2A 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005654 nucleoplasm IDA17110379
    GO:0005730 nucleolus IDA17110379
    GO:0005737 cytoplasm IDA16243918
    About this table

    Antibodies for CDKN2A: 
    Invitrogen Antibodies for CDKN2A
    Millipore Mono- and Polyclonal Antibodies for the study of CDKN2A
    Sigma-Aldrich Antibody Arrays and Antibodies for CDKN2A
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for CDKN2A  (p16INK4A)
    Antibodies from Abcam (Tumour suppressors, CDKN2A/p14ARF, CDKN2A/p16INK4a ), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (CDKN2A)
    Novus Biologicals Antibodies for CDKN2A

    Assays for CDKN2A: 
    Browse Invitrogen for biochemical assays
    Millipore Kits and Assays for the Analysis of CDKN2A
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for CDKN2A

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro domains/families:
     IPR002110 ANK
     IPR010868 P19Arf_N


       GeneDecks  CDKN2A for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P42771
    Graphical View of Domain Structure for InterPro Entry Q8N726

    ProtoNet protein and cluster: P42771

    UniProtKB/Swiss-Prot: CD2A1_HUMAN, P42771
    Similarity: Belongs to the CDKN2 cyclin-dependent kinase inhibitor family
    Similarity: Contains 4 ANK repeats

    Gene Function
    for CDKN2A

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Browse Invitrogen for RNAi
    Millipore RNAi Products for the Analysis of CDKN2A Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (CDKN2A)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_058195

                  Applied Biosystems Silencer® siRNAs for CDKN2A

                  Sigma-Aldrich siRNA and siRNA Panels for CDKN2A  
                         Sigma-Aldrich shRNA Panels and shRNA for CDKN2A  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000077
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000077
                                     untagged cDNA clones in CMV expression vector (see all 4): BC015960 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_058195

    UniProtKB/Swiss-Prot: CD2A1_HUMAN, P42771
    Function: Acts as a negative regulator of the proliferation of normal cells by interacting strongly
    with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate
    the retinoblastoma protein

    UniProtKB/Swiss-Prot: CD2A2_HUMAN, Q8N726
    Function: Capable of inducing cell cycle arrest in G1 and G2 phases. Acts as a tumor suppressor.
    Binds to MDM2 and blocks its nucleocytoplasmic shuttling by sequestering it in the nucleolus. This
    inhibits the oncogenic action of MDM2 by blocking MDM2-induced degradation of p53 and enhancing
    p53-dependent transactivation and apoptosis. Also induces G2 arrest and apoptosis in a
    p53-independent manner by preventing the activation of cyclin B1/CDC2 complexes. Binds to BCL6 and
    down-regulates BCL6-induced transcriptional repression. Binds to E2F1 and MYC and blocks their
    transcriptional activator activity but has no effect on MYC transcriptional repression. Binds to
    TOP1/TOPOI and stimulates its activity. This complex binds to rRNA gene promoters and may play a
    role in rRNA transcription and/or maturation. Interacts with NPM1/B23 and promotes its
    polyubiquitination and degradation, thus inhibiting rRNA processing. Interacts with UBE2I/UBC9 and
    enhances sumoylation of a number of its binding partners including MDM2 and E2F1. Binds to HUWE1
    and represses its ubiquitin ligase activity. May play a role in controlling cell proliferation and
    apoptosis during mammary gland development

    Genatlas biochemistry entry for CDKN2A:
    cyclin dependent kinases 4 and 6 (CDK4/CDK6) inhibitor p16 (p16INK4A),blocking them from
    phosphorylating RB1 and preventing exit from G1 phase of the cell cycle, encoding for an
    alternative reading frame p14ARF,homolog to murine p19ARF,putatively inducing G1 and G2 phase
    arrest,inactivated (LOH) in preneoplastic pancreatic duct lesions in head and neck cancer in
    progression and inactivated by hypermethylation in childhood lymphoblastic leukemia (see TSG9A)

    15/20 MGI mutant phenotypes (inferred from 17 alleles) (MGI details for Cdkn2a) (see all 20 ):

    cellulardigestive/alimentaryendocrine/exocrine glandgrowth/sizehematopoietic system
    homeostasis/metabolismimmune systemlethality-prenatal/perinatallife span-post-weaning/agingliver/biliary system
    musclenervous systemno phenotypic analysisnormalother

    5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677 DNA binding IEA--
    GO:0004861 cyclin-dependent protein kinase inhibitor activity IDA8259215
    GO:0005515 protein binding IPI11278317 12740913 15989956 17274640 17909018 18583933
    GO:0019901 protein kinase binding IPI8259215
    GO:0051059 NF-kappaB binding IDA10353611
    About this table

    Pathways & Interactions
    for CDKN2A

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    3 Invitrogen iPath™ Online BioAtlas - Pathways for CDKN2A (Maps provided by GeneGo):
     Regulatory cascade of cyclin gene expression
     Regulation of G1-S transition
     p53-dependent apoptosis

       GeneDecks  CDKN2A for the pathways selected above  
    About GeneDecksing

    2 Millipore Pathways for CDKN2A
     Cell cycle Regulation of G1/S transition (part 1)
     Transcription P53 signaling pathway

       GeneDecks  CDKN2A for the pathways selected above  
    About GeneDecksing

    5/12 Sigma-Aldrich "Your Favorite Gene" Pathways for  CDKN2A  (Your Favorite Gene powered by Ingenuity) (see all 12 ) 
     Chronic Myeloid Leukemia Signaling
     Wnt/&beta
     Aryl Hydrocarbon Receptor Signaling
     p53 Signaling
     Bladder Cancer Signaling

       GeneDecks  CDKN2A for the pathways selected above  
    About GeneDecksing

    1 Cell Signaling Technology (CST) Pathway for CDKN2A: 
     Cell Cycle Control: G1/S Checkpoint

       GeneDecks  CDKN2A for the pathways selected above  
    About GeneDecksing

    5/9 Kegg Pathways  (Kegg details for CDKN2A) (see all 9 ):
     hsa04110 Cell cycle
     hsa04115 p53 signaling pathway
     hsa05200 Pathways in cancer
     hsa05212 Pancreatic cancer
     hsa05214 Glioma

       GeneDecks  CDKN2A for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  CDKN2A 


    5/177 Interacting proteins for CDKN2A (ENSP000003551533 Q8N7261, 2 P427711, 2) via UniProtKB, MINT, and/or STRING (see all 177 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDK4P118021STRING (score=.999) EBI-375053, EBI-295644
    MCM10Q7L5901STRING (score=.998) EBI-375053, EBI-374912
    MCM2P497361STRING (score=.998) EBI-375053, EBI-374819
    MCM5P339921STRING (score=.999) EBI-375053, EBI-359410
    ORC4LO439291STRING (score=.998) EBI-375053, EBI-374889
    About this table

    5/26 Gene Ontology (GO) biological process terms (links to tree view) (see all 26 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075 cell cycle checkpoint IMP16243918
    GO:0000082 G1/S transition of mitotic cell cycle IDA10208428
    GO:0001953 negative regulation of cell-matrix adhesion IMP10205165
    GO:0006309 DNA fragmentation during apoptosis IMP12082630
    GO:0006350 transcription IEA--
    About this table

    Drugs & Compounds
    for CDKN2A

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Sigma-Aldrich Small Molecules for CDKN2A:
    Inhibitor

    Browse Tocris compounds for CDKN2A
    10/50 Novoseek chemical compound relationships for CDKN2A gene (see all 50 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    mtsi 68.64 4 8703847 (1), 7591954 (1), 7542912 (1)
    crcs 57.77 23 17451198 (2), 15492985 (2), 12973852 (2), 14719111 (2) (see all 11)
    o6-methylguanine 54.05 20 16258509 (2), 16203797 (1), 19047896 (1), 14633667 (1) (see all 11)
    5-methylcytosine 45.05 5 9808523 (1), 12154064 (1), 11751682 (1)
    fascaplysin 44.55 2 16936279 (1), 15309028 (1)
    zebularine 44.25 5 14729971 (2), 12618505 (1), 19006382 (1)
    hpvs 42.84 7 9846965 (2), 14501820 (1), 14767609 (1), 15608419 (1)
    cytosine 34.53 7 9659578 (1), 10753192 (1), 17723697 (1), 18327804 (1)
    ifn-alpha 24.36 3 9009086 (1), 9484941 (1)
    rpa 2 19.40 1 16467079 (1)
    About this table


    Transcripts
    for CDKN2A

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Browse Invitrogen for RNAi
    Millipore RNAi Products for the Analysis of CDKN2A Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (CDKN2A)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_058195

                  Sigma-Aldrich siRNA and siRNA Panels for CDKN2A  
                         Sigma-Aldrich shRNA Panels and shRNA for CDKN2A  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000077  NM_058195  NM_058197  

    REFSEQ mRNAs for CDKN2A gene (3 alternative transcripts): 

    NM_000077.3   NM_058195.2   NM_058197.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000077  NM_058195  NM_058197  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000077
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000077
                                     untagged cDNA clones in CMV expression vector (see all 4): BC015960 

    Additional cDNA sequence: 

    AF115544.1 AF211119.1 AJ844636.1 BC015960.2 BC021998.2 BT007020.1 CR604976.1 DQ318021.1 
    L27211.1 S78535.1 U26727.1 U38945.1 

    16 DOTS entries:

    DT.444664  DT.95191891  DT.95191893  DT.95191887  DT.95191892  DT.305596  DT.91754325  DT.92027925 
    DT.97784050  DT.99962274  DT.102833213  DT.104796  DT.91754320  DT.91908765  DT.121147160  DT.95191889 

    24/264 AceView cDNA sequences (see all 264 ):

    AA826886 BF000057 BM055160 AF488409 BM701855 CR536529 BM475019 NM_078487 
    BM843979 AI160044 AU279609 BC014469 AW328497 BM126144 CK904818 CR604976 
    AF488410 AI859893 NM_004936 BX502404 BM719878 AF488731 BQ441101 CB160611 

    highest scoring ESTs for CDKN2A:

    U26727 AA055721 AA076327 AA314017 AA314567 AI363262 AI817709 AL582909 AW328496 AW954853 

    Unigene Cluster for CDKN2A:

    Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
    Hs.512599  [show with all ESTs]
    Unigene Representative Sequence: BQ945397


    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CDKN2A (see all 8 )

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d
    SP1:                    -     -           -     -     -     -     -     -           -                           
    SP2:                                                        -     -     -           -                           
    SP3:                                                              -     -           -                           
    SP4:                    -     -     -     -     -     -     -     -     -           -                           
    SP5:                    -                                                                                       

    About this scheme

    ECgene alternative splicing isoforms for CDKN2A

    4 Ensembl transcripts including schematic representations:
    ENST00000380151  ENST00000380150  ENST00000361570  ENST00000304494  

    Expression
    for CDKN2A

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    CDKN2A expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for CDKN2A

    1 / 2 / 3

    8 probe-sets matching CDKN2A gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    		1713_s_at2, 3 U95-A 1 1.00 1.00 0.41 0.14 U26727 1.00 0.90 0.95 1

    		73132_r_at2, 3 U95-E 6 0.81 0.44 1.00 1.00 AA909181 0.60 0.67 0.63 1

    		207039_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000077 0.60 0.83 0.73 1

    		211156_at2, 3 U133-A 1 1.00 1.00 -- -- AF115544 0.60 0.83 0.73 1

    		209644_x_at2, 3 U133-A 3 1.00 0.91 -- -- U38945 0.80 0.88 0.84 1

    		207039_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		211156_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		209644_x_at2 U133Plus2 3 1.00 0.91 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CCCGCATAGA

    SOURCE GeneReport for Unigene cluster: Hs.512599

    Expression variation in blood from EXPOLDB for CDKN2A

    UniProtKB/Swiss-Prot: CD2A1_HUMAN, P42771
    Tissue specificity: Widely expressed but not detected in brain or skeletal muscle. Isoform 3 is
    pancreas-specific

    Orthologs
    for CDKN2A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for CDKN2A gene from 5 species
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 CDKN2A1   -- cyclin-dependent kinase inhibitor 2A (melanoma, p16, more 91.97(n)
    92.77(a)    		 481563  XM_538685.2  XP_538685.2 
    chimpanzee
    (Pan troglodytes)    		 CDKN2A1   -- cyclin-dependent kinase inhibitor 2A (melanoma, p16, more 99.15(n)
    99.36(a)    		 465021  XM_520513.2  XP_520513.1 
    cow
    (Bos taurus)    		 CDKN2A1   -- cyclin-dependent kinase inhibitor 2A (melanoma, p16, more 85.91(n)
    83.89(a)    		 616369  XM_868375.2  XP_873468.2 
    rat
    (Rattus norvegicus)    		 Cdkn2a1   -- cyclin-dependent kinase inhibitor 2A 76.96(n)
    78.05(a)    		 25163  NM_031550.1  NP_113738.1 
    mouse
    (Mus musculus)    		 Cdkn2a1, 5 4 (42.70 cM)5
    		 cyclin-dependent kinase inhibitor 2A1, 5 75.47(n)1
    74.4(a)1    		 125781  NM_001040654.11  NP_001035744.11 
     AB2216385  AF0045885  (see all 34)
    About this table        Species with no ortholog for CDKN2A

    ENSEMBL Gene Tree for CDKN2A

    Paralogs
    for CDKN2A

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    		  --

    SNPs/Variants
    for CDKN2A

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section

    		UniProtKB/Swiss-Prot: CD2A2_HUMAN, Q8N726
    Polymorphism: Genetic variations in CDKN2A may underlie susceptibility to uveal melanoma
    [MIM:155720]. Uveal melanoma is the most common type of ocular malignant tumor, consisting of
    overgrowth of uveal melanocytes and often preceded by a uveal nevus


    10/188 NCBI SNPs in CDKN2A are shown (see all 188 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 83)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 9 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    --
    rs64134631,2
    		C,F,H21960989(-) GGCCAT/ACGCGA 3 Q/H mis1 ut31 ese39Minor allele frequency- A:0.01MN CSAM EA EU WA 780
    rs37312361,2
    		C,F,H21966976(-) TTATCC/TAGTAG 3 -- int1 ng315Minor allele frequency- T:0.01NS EU EA WA 598
    rs37312381,2
    		C,F,H21965561(-) GGAAGG/AAGAGA 3 -- int1 ng31 trp32Minor allele frequency- A:0.02NS EU 300
    rs37312491,2
    		C,F,H21960916(-) ATGCCG/ACGGAA 3 T/A mis1 ut31 ese316Minor allele frequency- A:0.02NS MN EA WA CSAM 1714
    --
    rs362045941,2
    		F21961179(-) AGTGGC/TGGAGC 3 A/V G/G mis1 syn1 ut311Minor allele frequency- T:0.00MN 7458
    --
    rs38149601,2
    		C21965017(+) GACGCA/C/G/T 
                GTGAG     		3 -- ut51 int1 ese30--------
    --
    rs362042731,2
    		F21961185(-) CGCCCG/AAGTGG 3 P/P Q/R syn1 mis1 ut311Minor allele frequency- A:0.00MN 7458
    --
    rs115528221,2
    		C21961108(-) TGCACG/TACGCT 3 R/L D/Y mis1 ut31 ese35Minor allele frequency- T:0.00MN CSAM EA 404
    --
    rs349682761,2
    		F21961109(-) GTGCAC/AGACGC 3 R/R Q/H syn1 mis1 ut311Minor allele frequency- A:0.00MN 7458
    --
    rs341707271,2
    		F21960988(-) GCCATC/TGCGAT 3 R/C mis1 ut311Minor allele frequency- T:0.00MN 7458
    About this table

    HapMap Linkage Disequilibrium images for CDKN2A (up to first 250kb)

    Disorders & Mutations
    for CDKN2A

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 600160

    UniProtKB/Swiss-Prot: CD2A2_HUMAN, Q8N726

  • Defects in CDKN2A are involved in tumor formation in a wide range of tissues
  • Defects in CDKN2A are the cause of cutaneous malignant melanoma 2 (CMM2) [MIM:155601].
    Inheritance is autosomal dominant. Malignant melanoma is a malignant neoplasm of melanocytes,
    arising de novo or from a preexisting benign nevus, which occurs most often in the skin but also
    may involve other sites
  • Defects in CDKN2A are the cause of familial atypical multiple mole melanoma-pancreatic
    carcinoma syndrome (FAMMMPC) [MIM:606719]
  • Defects in CDKN2A are a cause of Li-Fraumeni syndrome (LFS) [MIM:151623]. LFS is a highly
    penetrant familial cancer phenotype usually associated with inherited mutations in TP53
  • Defects in CDKN2A are the cause of melanoma-astrocytoma syndrome [MIM:155755]. The
    melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural
    system tumors, commonly astrocytoma

    • 10/97 Novoseek disease relationships for CDKN2A gene (see all 97 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 88.45 372 16467168 (10), 11914625 (7), 15509364 (4), 18644346 (4) (see all 99)
    tumors 85.44 3799 9101469 (9), 12149144 (8), 12416540 (7), 19047137 (6) (see all 99)
    melanoma 79.62 1357 16331607 (9), 16234564 (9), 11156381 (8), 17091256 (7) (see all 99)
    carcinoma squamous cell 78.45 439 12429789 (6), 15328914 (4), 8705996 (4), 9440786 (4) (see all 99)
    microsatellite instability 78.05 41 10194257 (2), 9917133 (2), 12612901 (2), 10411935 (1) (see all 29)
    cancer 77.46 806 12575612 (6), 9464545 (6), 9508208 (5), 15173226 (4) (see all 99)
    allelic loss 76.72 98 8934532 (5), 17659731 (4), 7849711 (3), 11839561 (3) (see all 49)
    familial atypical multiple mole melanoma 76.02 6 7670475 (1), 10956390 (1), 10400925 (1), 18813118 (1) (see all 5)
    multiple tumors 73.48 58 8821952 (2), 7576105 (2), 7473071 (1), 8957063 (1) (see all 38)
    adenocarcinoma 71.11 337 18410530 (6), 15617840 (6), 16496173 (5), 18346352 (5) (see all 99)
    About this table

    1 PharmGKB disease relationship for CDKN2A gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, T-Cell, AcuteFA  GN  15495191
    About this table

    Human Gene Mutation Database: CDKN2A
    Genetic Association Database: CDKN2A
    Human Genome Epidemiology Navigator: CDKN2A (155 documents)

    Medical News
    for CDKN2A

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    Publications
    for CDKN2A

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/3393 PubMed articles for CDKN2A gene (see all 3393 ):

    Search for CDKN2A

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CDKN2A

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 1029 HGNC: 1787 AceView: CDKN2AandCDKN2B Ensembl:ENSG00000147889 euGenes: HUgn1029
    ECgene: CDKN2A H-InvDB: CDKN2A

    Other Databases showing CDKN2A

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing CDKN2A

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for CDKN2A Genetics and Cytogenetics in Oncology and Haematology
    CDKN2A Databasehttps://biodesktop.uvm.edu/perl/p16
    GeneReviewshttp://www.genetests.org/query?gene=CDKN2A
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cdkn2a/
    Wikipedia http://en.wikipedia.org/wiki/P16INK4a
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cdkn2a/

    Licensable Technologies
    for CDKN2A

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for CDKN2A

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for CDKN2A:
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