View CENPJ gene homepage

General information
Gene symbol CENPJ
Gene name centromere protein J
Chromosome 13
Chromosomal band q12.12
Imprinted Unknown
Genomic reference NG_009165.1
Transcript reference NM_018451.3
Associated with diseases ID, MCPH-6, SCKL, SCKL-4
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 1
Hidden variants 0
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 July 03, 2016
Version CENPJ:160703

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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 17272
Entrez Gene 55835
PubMed articles CENPJ
OMIM - Gene 609279
OMIM - Diseases MCPH-6 (microcephaly, type 6, primary, autosomal recessive (MCPH-6))
SCKL (Seckel syndrome (SCKL))
SCKL-4 (Seckel syndrome, type 4 (SCKL-4))
GeneCards CENPJ
GeneTests CENPJ

Active transcripts




NCBI ID     

NCBI Protein ID     

00000108 13 centromere protein J NM_018451.3 NP_060921.3 1

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