MAPT

Chr 17ADMultiAR

microtubule associated protein tau

Also known as: DDPAC, FTD1, FTDP-17, MAPTL, MSTD, MTBT1, MTBT2, PPND

NCBI Gene: 4137ENSG00000186868UniProt: P10636OMIM: 157140

This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Parkinson disease, susceptibility to}MIM #168600
ADMulti
Frontotemporal dementia 1, with or without parkinsonismMIM #600274
AD
Pick diseaseMIM #172700
AD
Supranuclear palsy, progressiveMIM #601104
AD
Supranuclear palsy, progressive atypicalMIM #260540
AR
UniProtPick disease of the brain
UniProtProgressive supranuclear palsy 1
UniProtParkinson-dementia syndrome

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
10
Active trials
408
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.57
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — MAPT
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.57LOEUF
pLI 0.006
Z-score 3.28
OE 0.33 (0.20–0.57)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.52Z-score
OE missense 0.80 (0.74–0.87)
380 obs / 473.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.33 (0.20–0.57)
0≤0.351.4
Missense OE?0.80 (0.74–0.87)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 9 / 27.6Missense obs/exp: 380 / 473.1Syn Z: 0.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MAPT · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Concussion, BrainMild Traumatic Brain Injury

Risk Stratification in Children With Concussion

RECRUITING
NCT05825027Duke UniversityStarted 2023-05-23
Neurodegenerative DiseaseBehavioral Variant Frontotemporal Dementia (bvFTD)Primary Progressive Aphasia(PPA)

Tracking and Predicting How Brain Damage Spreads in Neurodegenerative Diseases

ENROLLING BY INVITATION
NCT07567664Phase NAIRCCS San RaffaeleStarted 2017-06-01
3 Tesla MRI without contrast mediumBlood sample for genetic analysisCerebrospinal fluid sampling (CSF)
Frontotemporal Lobar DegenerationAlzheimer DiseaseCognitively Normal

PET Imaging Tau Accumulation in FTLD and Atypical Alzheimer's Using [18F]-PI-2620

RECRUITING
NCT05456503Phase PHASE3University of PennsylvaniaStarted 2022-09-19
[18F]-PI-2620
Huntington's Disease (HD)

Biology-Driven Cognitive Profiling in Huntington's Disease

ACTIVE NOT RECRUITING
NCT07503743Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant PauStarted 2021-09-01
COVID-19

A Two Year Longitudinal Clinical Study of Neurocognitive and Psychiatric Symptoms in Post COVID-19 Patients

ACTIVE NOT RECRUITING
NCT06298006Region Örebro CountyStarted 2022-02-22
Follow-up
DementiaCognitive DeclineAlzheimer Disease

Investigating Neurocognitive Disorders Epidemiology

RECRUITING
NCT06375213King Chulalongkorn Memorial HospitalStarted 2023-08-24
Plasma tau phosphorylated at Thr217Neurocognitive examination
Frontotemporal Lobar Degeneration (FTLD)Progressive Supranuclear Palsy (PSP)Corticobasal Degeneration (CBD)

ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD)

RECRUITING
NCT04363684Mayo ClinicStarted 2020-03-01
Neurodegenerative DisordersParkinson DiseaseAlzheimer Disease

An Innovative Method in SAliva Samples for the Early Differential Diagnosis of High-impact NeuroDegenerative Diseases Through Raman Spectroscopy

ENROLLING BY INVITATION
NCT06875739Fondazione Don Carlo Gnocchi ETSStarted 2025-02-14
Mild Cognitive Impairment (MCI)AgingOral Microbiome

Elderberry Functional Gum and Cognitive & Oral Health in Older Adults

NOT YET RECRUITING
NCT07054645Phase NABurdur Mehmet Akif Ersoy UniversityStarted 2025-11-01
Elderberry Anthocyanin Chewing GumPlacebo Chewing Gum
Alzheimer DiseaseInactivityPreventive Therapy

The Link Between Physical Activity and Brain Health in Healthy Adults

RECRUITING
NCT07025070Technical University of MadridStarted 2024-11-25

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients