MAPT gene homepage

General information
Gene symbol MAPT
Gene name microtubule-associated protein tau
Chromosome 17
Chromosomal band q21
Imprinted Unknown
Genomic reference NG_007398.1
Transcript reference NM_001123066.3, NM_016835.4
Exon/intron information NM_016835.4 exon/intron table
Associated with diseases FTD, PD, Picks, PSNP-1, Parkinson-dementia syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 305
Unique public DNA variants reported 137
Individuals with public variants 568
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated April 26, 2019
Version MAPT:190426

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_016835.4.
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
External URL Orphanet
Alzheimer Disease & Frontotemporal Dementia Mutation Database
HGNC 6893
Entrez Gene 4137
PubMed articles MAPT
OMIM - Gene 157140
OMIM - Diseases FTD (dementia, frontotemporal (FTD))
PD (Parkinson disease (PD))
Picks (Pick's disease of brain)
PSNP-1 (ophthalmoplegia, supranuclear, progressive (PSNP-1))
Parkinson-dementia syndrome
GeneCards MAPT
GeneTests MAPT

Active transcripts




NCBI ID     

NCBI Protein ID     

00025253 17 transcript variant 6 NM_001123066.3 NP_001116538.2 294
00011803 17 transcript variant 1 NM_016835.4 NP_058519.3 142

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 © 2010-2019. 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.

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.