CDK5RAP2 gene homepage

General information
Gene symbol CDK5RAP2
Gene name CDK5 regulatory subunit associated protein 2
Chromosome 9
Chromosomal band q33.3
Imprinted Unknown
Genomic reference NG_008999.1
Transcript reference NM_018249.4
Associated with diseases ID, MCPH-3
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 102
Unique public DNA variants reported 84
Individuals with public variants 33
Hidden variants 10
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created May 01, 2012
Date last updated September 15, 2020
Version CDK5RAP2:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 18672
Entrez Gene 55755
PubMed articles CDK5RAP2
OMIM - Gene 608201
OMIM - Diseases MCPH-3 (microcephaly, type 3, autosomal recessive (MCPH-3))
GeneCards CDK5RAP2
GeneTests CDK5RAP2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000074 9 CDK5 regulatory subunit associated protein 2, transcript variant 1 NM_018249.4 NP_060719.4 102

Copyright & disclaimer
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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.