The PCNT gene homepage

General information
Gene symbol PCNT
Gene name pericentrin
Chromosome 21
Chromosomal band q22.3
Imprinted Unknown
Genomic reference NG_008961.1
Transcript reference NM_006031.5
Exon/intron information NM_006031.5 exon/intron table
Associated with diseases ID, MOPD, MOPD-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 403
Unique public DNA variants reported 322
Individuals with public variants 366
Hidden variants 74
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 31, 2010
Date last updated November 09, 2021
Version PCNT:211109

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_006031.5.
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 16068
Entrez Gene 5116
PubMed articles PCNT
OMIM - Gene 605925
OMIM - Diseases MOPD-2 (dwarfism, primordial, osteodysplastic, microcephalic type II (MOPD-2))
GeneCards PCNT
GeneTests PCNT
Orphanet PCNT

Active transcripts




NCBI ID     

NCBI Protein ID     

00015829 21 pericentrin NM_006031.5 NP_006022.3 403

Copyright & disclaimer
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