ANO5 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
General information
Gene symbol ANO5
Gene name anoctamin 5
Chromosome 11
Chromosomal band p15.1
Imprinted Unknown
Genomic reference NG_015844.1
Transcript reference NM_213599.2
Associated with diseases GDD, LGMD-2L, dystrophy, muscular, Miyoshi, type 3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Bernard Brais, Talita Conte and Johan den Dunnen
Total number of public variants reported 407
Unique public DNA variants reported 128
Individuals with public variants 196
Hidden variants 2
Download all this gene's data Download all data
Notes Alias GDD1, TMEM16E.
This database is one of the gene variant databases from the:
We gratefully acknowledge the previous work of Veronique Bolduc as a curator of the ANO5 database.
Date created February 10, 2010
Date last updated August 10, 2018
Version ANO5:180810

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 http://www.LOVD.nl/ANO5
HGNC 27337
Entrez Gene 203859
PubMed articles ANO5
OMIM - Gene 608662
OMIM - Diseases GDD (dysplasia, gnathodiaphyseal (GDD))
LGMD-2L (dystrophy, muscular, limb-girdle, type 2L (LGMD-2L))
dystrophy, muscular, Miyoshi, type 3
HGMD ANO5
GeneCards ANO5
GeneTests ANO5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002584 11 transcript variant 1 NM_213599.2 NP_998764.1 407


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 © 2010-2018. 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.

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.