The 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_001123067.3, NM_001203251.1, NM_001203252.1, NM_005910.5, NM_016834.4, NM_016835.4, NM_016841.4, XM_005257362.1, XM_005257363.1, XM_005257364.1, XM_005257365.1, XM_005257366.1, XM_005257367.1, XM_005257368.1, XM_005257369.1, XM_005257370.1, XM_005257371.1, XM_005257372.1
Associated with diseases FTD, PARK, Picks, PSNP-1, Parkinson-dementia syndrome
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 171
Unique public DNA variants reported 29
Individuals with public variants 35
Hidden variants 443
Date created October 29, 2013
Date last updated September 28, 2016
Version MAPT:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:6893
Entrez Gene 4137
PubMed articles MAPT
OMIM - Gene 157140
OMIM - Diseases FTD (dementia, frontotemporal (FTD))
PARK (Parkinson disease (PARK))
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     
00004549 17 transcript variant 6 NM_001123066.3 NP_001116538.2 171
00017958 17 Manually created transcript. NM_016835.4 - 160
00017957 17 Manually created transcript. NM_005910.5 - 105
00017955 17 Manually created transcript. NM_001123067.3 - 101
00004547 17 transcript variant 8 NM_001203252.1 NP_001190181.1 99
00004546 17 transcript variant 3 NM_016834.4 NP_058518.1 98
00017956 17 Manually created transcript. (removed from reference sequence) NM_001203251.1 - 95
00004548 17 transcript variant 4 NM_016841.4 NP_058525.1 92
00038590 17 transcript variant X9 XM_005257370.1 XP_005257427.1 -
00038591 17 transcript variant X6 XM_005257367.1 XP_005257424.1 -
00038592 17 transcript variant X10 XM_005257371.1 XP_005257428.1 -
00038593 17 transcript variant X8 XM_005257369.1 XP_005257426.1 -
00038594 17 transcript variant X11 XM_005257372.1 XP_005257429.1 -
00038595 17 transcript variant X3 XM_005257364.1 XP_005257421.1 -
00038596 17 transcript variant X5 XM_005257366.1 XP_005257423.1 -
00038597 17 transcript variant X7 XM_005257368.1 XP_005257425.1 -
00038598 17 transcript variant X4 XM_005257365.1 XP_005257422.1 -
00038599 17 transcript variant X2 XM_005257363.1 XP_005257420.1 -
00038600 17 transcript variant X1 XM_005257362.1 XP_005257419.1 -


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