The 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 LRG_868
Transcript reference NM_213599.2
Exon/intron information NM_213599.2 exon/intron table
Associated with diseases GDD, LGMD-2L, dystrophy, muscular, Miyoshi, type 3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Bernard Brais, Johan den Dunnen, and Marie-Josée Dicaire
Total number of public variants reported 991
Unique public DNA variants reported 293
Individuals with public variants 819
Hidden variants 21
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 and Talita Conte as a curator of the ANO5 database.
Date created February 10, 2010
Date last updated November 28, 2021
Version ANO5:211128

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_213599.2.
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 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
GeneCards ANO5
GeneTests ANO5
Orphanet ANO5

Active transcripts




NCBI ID     

NCBI Protein ID     

00002584 11 transcript variant 1 NM_213599.2 NP_998764.1 991

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 © 2010-2021. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.