AR gene homepage

General information
Gene symbol AR
Gene name androgen receptor
Chromosome X
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_009014.2
Transcript reference NM_000044.3
Exon/intron information NM_000044.3 exon/intron table
Associated with diseases AIS, HYSP-1, MAIS, PAIS, SMAX-1, cancer, prostate
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Carolina Lemos and Bruce Gottlieb
Total number of public variants reported 1445
Unique public DNA variants reported 622
Individuals with public variants 1807
Hidden variants 98
Download all this gene's data Download all data
Notes Establishment of this database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated January 06, 2018
Version AR:180106

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_000044.3.
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
Androgen Receptor Gene Mutations Database
HGNC 644
Entrez Gene 367
PubMed articles AR
OMIM - Gene 313700
OMIM - Diseases AIS (syndrome, insensitivity, androgen (AIS))
HYSP-1 (hypospadias, type 1, X-linked (HYSP-1))
PAIS (syndrome, insensitivity, androgen, partial, with or without breast cancer (PAIS, Reifenstein syndrome))
cancer, prostate
GeneCards AR
GeneTests AR

Active transcripts




NCBI ID     

NCBI Protein ID     

00002740 X transcript variant 1 NM_000044.3 NP_000035.2 1445

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 © 2009-2018. 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.