The INPP5E gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol INPP5E
Gene name inositol polyphosphate-5-phosphatase, 72 kDa
Chromosome 9
Chromosomal band q34.3
Imprinted Unknown
Genomic reference NG_016126.1
Transcript reference NM_019892.4
Exon/intron information NM_019892.4 exon/intron table
Associated with diseases ID, JBTS1, MORMS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 165
Unique public DNA variants reported 105
Individuals with public variants 54
Hidden variants 12
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created July 16, 2012
Date last updated August 10, 2022
Version INPP5E:220810

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_019892.4.
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 21474
Entrez Gene 56623
PubMed articles INPP5E
OMIM - Gene 613037
OMIM - Diseases JBTS1 (Joubert syndrome, type 1 (JBTS1))
MORMS (mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome (MORMS))
GeneCards INPP5E
GeneTests INPP5E
Orphanet INPP5E

Active transcripts




NCBI ID     

NCBI Protein ID     

00010055 9 inositol polyphosphate-5-phosphatase, 72 kDa NM_019892.4 NP_063945.2 165

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.

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