CDKN2A gene homepage

General information
Gene symbol CDKN2A
Gene name cyclin-dependent kinase inhibitor 2A
Chromosome 9
Chromosomal band p21
Imprinted Unknown
Genomic reference LRG_11
Transcript reference NM_000077.4, NM_058195.3
Exon/intron information NM_000077.4 exon/intron table, NM_058195.3 exon/intron table
Associated with diseases CMM-2, melanoma, syndrome, melanoma astrocytoma, syndrome, melanoma-pancreatic cancer
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Nienke van der Stoep
Total number of public variants reported 439
Unique public DNA variants reported 167
Individuals with public variants 620
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 10, 2007
Date last updated August 12, 2017
Version CDKN2A:170812

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000077.4, NM_058195.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/CDKN2A
External URL Orphanet
HGNC 1787
Entrez Gene 1029
PubMed articles CDKN2A
OMIM - Gene 600160
OMIM - Diseases CMM-2 (melanoma, cutaneous, malignant, susceptibility to, type 2 (CMM-2))
syndrome, melanoma astrocytoma
syndrome, melanoma-pancreatic cancer
HGMD CDKN2A
GeneCards CDKN2A
GeneTests CDKN2A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004876 9 cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4), transcript variant 1 NM_000077.4 NP_000068.1 439
00024207 9 transcript variant 4 NM_058195.3 NP_478102.2 432


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2007-2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.