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, SCKL, SCKL-4, Microcephaly 6, primary, autosomal recessive
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 23, 2015
Version CENPJ:150723

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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 SCKL (Seckel syndrome (SCKL))
SCKL-4 (Seckel syndrome, type 4 (SCKL-4))
Microcephaly 6, primary, autosomal recessive
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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