GLI3 gene homepage

General information
Gene symbol GLI3
Gene name GLI family zinc finger 3
Chromosome 7
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_008434.1
Transcript reference NM_000168.5
Exon/intron information NM_000168.5 exon/intron table
Associated with diseases GCPS, ID, PAP-4, PAPA-1, PHS, Hamartoma of hypothalamus
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 210
Unique public DNA variants reported 172
Individuals with public variants 53
Hidden variants 12
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 February 24, 2019
Version GLI3:190224

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_000168.5.
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
HGNC 4319
Entrez Gene 2737
PubMed articles GLI3
OMIM - Gene 165240
OMIM - Diseases GCPS (cephalopolysyndactyly, Greig syndrome (GCPS))
PAP-4 (polydactyly, preaxial, type IV (PAP-4))
PHS (Pallister-Hall syndrome (PHS))
Hamartoma of hypothalamus
GeneCards GLI3
GeneTests GLI3

Active transcripts




NCBI ID     

NCBI Protein ID     

00000184 7 GLI family zinc finger 3 NM_000168.5 NP_000159.3 210

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2012-2019. 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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