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 264
Unique public DNA variants reported 113
Individuals with public variants 568
Hidden variants 1
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 https://www.LOVD.nl/MAPT
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
HGMD MAPT
GeneCards MAPT
GeneTests MAPT


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025253 17 transcript variant 6 NM_001123066.3 NP_001116538.2 253
00011803 17 transcript variant 1 NM_016835.4 NP_058519.3 101


Copyright & disclaimer
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