NPC2 gene homepage

General information
Gene symbol NPC2
Gene name Niemann-Pick disease, type C2
Chromosome 14
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NG_007117.1
Transcript reference NM_006432.3
Exon/intron information NM_006432.3 exon/intron table
Associated with diseases NPC-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Kirsten McKay and LOVD-team, but with Curator vacancy
Total number of public variants reported 31
Unique public DNA variants reported 20
Individuals with public variants 12
Hidden variants 6
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 April 29, 2010
Date last updated June 24, 2020
Version NPC2:200624

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_006432.3.
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
External URL Orphanet
HGNC 14537
Entrez Gene 10577
PubMed articles NPC2
OMIM - Gene 601015
OMIM - Diseases NPC-2 (Niemann-Pick disease type C2 (NPC-2))
GeneCards NPC2
GeneTests NPC2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000131 14 Niemann-Pick disease, type C2 NM_006432.3 NP_006423.1 31

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.