The CENPJ gene homepage

General information
Gene symbol CENPJ
Gene name centromere protein J
Chromosome 13
Chromosomal band q12.12
Imprinted Unknown
Genomic reference NG_009165.2
Transcript reference NM_018451.3
Exon/intron information NM_018451.3 exon/intron table
Associated with diseases ID, MCPH6, SCKL1, SCKL4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 118
Unique public DNA variants reported 97
Individuals with public variants 58
Hidden variants 17
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created May 01, 2012
Date last updated May 09, 2022
Version CENPJ:220509

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_018451.3.
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
HGNC 17272
Entrez Gene 55835
PubMed articles CENPJ
OMIM - Gene 609279
OMIM - Diseases MCPH6 (microcephaly, type 6, primary, autosomal recessive (MCPH-6))
SCKL1 (Seckel syndrome (SCKL))
SCKL4 (Seckel syndrome, type 4 (SCKL-4))
GeneCards CENPJ
GeneTests CENPJ
Orphanet CENPJ

Active transcripts




NCBI ID     

NCBI Protein ID     

00000108 13 centromere protein J NM_018451.3 NP_060921.3 118

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2012-2022. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.