Gene: MAPT

Alternate names for this Gene: DDPAC|FTDP-17|MAPTL|MSTD|MTBT1|MTBT2|PPND|PPP1R103|TAU

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.31

Description of this Gene: microtubule associated protein tau

Type of Gene: protein-coding

rs112385572 in MAPT gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs919462 in MAPT gene and Alopecia, Androgenetic, 1 PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs919462 in MAPT gene and Alopecia, Androgenetic, 2 PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs919462 in MAPT gene and Alopecia, Androgenetic, 3 PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs10445371 in MAPT gene and Alopecia, Male Pattern PMID 22693459 2012 Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.

PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs919462 in MAPT gene and Androgenetic Alopecia PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs2435210 in MAPT gene and Anxiety PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs242557 in MAPT gene and Atrial Fibrillation PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

rs1864325 in MAPT gene and Bone Density PMID 22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

rs1864325 in MAPT gene and Bone Mineral Density Test PMID 22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.

rs62061734 in MAPT gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs141455452 in MAPT gene and Child Development Disorders, Pervasive PMID 30804558 2019 Identification of common genetic risk variants for autism spectrum disorder.

rs10445337 in MAPT gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs547116051 in MAPT gene and Degenerative polyarthritis PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs1052553 in MAPT gene and Diabetes Mellitus, Insulin-Dependent PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

rs1991556 in MAPT gene and Duration of sleep PMID 30531941 2018 GWAS identifies 14 loci for device-measured physical activity and sleep duration.

PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

rs62061733 in MAPT gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs63750092 in MAPT gene and Frontotemporal dementia PMID 11921059 2002 Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.

PMID 9736786 1998 Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

PMID 9641683 1998 Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.

PMID 12509859 2003 A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.

PMID 16240366 2005 Phenotypic heterogeneity within a new family with the MAPT p301s mutation.

PMID 12473774 2002 Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).

PMID 11889249 2002 Early-onset, rapidly progressive familial tauopathy with R406W mutation.

PMID 15883319 2005 A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.

PMID 11585254 2001 Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells.

PMID 10214944 1999 Accelerated filament formation from tau protein with specific FTDP-17 missense mutations.

PMID 14517953 2003 Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe.

PMID 10374757 1999 Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

PMID 10208578 1999 A distinct familial presenile dementia with a novel missense mutation in the tau gene.

PMID 11906000 2002 Functional effects of tau gene mutations deltaN296 and N296H.

PMID 10802785 2000 Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.

PMID 11071507 2000 A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.

PMID 10489057 1999 A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.

PMID 11117541 2000 Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.

PMID 11278002 2001 Effects of FTDP-17 mutations on the in vitro phosphorylation of tau by glycogen synthase kinase 3beta identified by mass spectrometry demonstrate certain mutations exert long-range conformational changes.

PMID 10553987 1999 FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 12509859 2003 A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.

PMID 11585254 2001 Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells.

PMID 10214944 1999 Here, we present evidence that frontotemporal dementia and Parkinsonism linked to chromosome 17 missense mutations, P301L, V337M and R406W, cause an accelerated aggregation of tau into filaments.

PMID 11117541 2000 We report on a 55-year old woman with frontotemporal dementia and a family history of FTDP-17 in whom we found a novel E12 (Glu342Val) tau gene mutation, prominent frontotemporal neuron loss, intracytoplasmic tau aggregates, paired helical tau filaments, increased 4R tau messenger RNA, increased 4R tau without E2 or E3 inserts, decreased 4R tau with these inserts, and a 4R:3R tau ratio greater than 1 in gray and white matter.

PMID 16219306 2005 Transgenic mice expressing mutant (N279K) human tau show mutation dependent cognitive deficits without neurofibrillary tangle formation.

PMID 26373282 2015 Consistently, the levels of intracellular/luminal vesicle and exosome marker flotillin-1 were significantly increased in frontal and temporal cortices of PPND/FTDP-17 patients with the N279K tau mutation, events that were not seen in the occipital cortex which is the most spared cortical region in the patients.

PMID 19498037 2009 Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing.

PMID 27082848 2017 GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.

PMID 26220942 2015 Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.

PMID 26143746 2015 Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein.

PMID 17715352 2007 The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model.

PMID 10802785 2000 The N279K mutation is a causative genetic defect for pallidopontonigral degeneration in an American kindred that presents with frontotemporal dementia (FTD) and parkinsonism.

PMID 14568818 2003 A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene.

PMID 10412802 1999 A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.

PMID 19766248 2009 Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation.

PMID 19786698 2009 Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations.

PMID 20045477 2010 Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations.

PMID 28097206 2016 [18F]AV-1451 PET in behavioral variant frontotemporal dementia due to MAPT mutation.

PMID 23680655 2013 Neurodegenerative disorder FTDP-17-related tau intron 10 +16C → T mutation increases tau exon 10 splicing and causes tauopathy in transgenic mice.

PMID 19365643 2009 Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration.

PMID 17923640 2007 Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease.

PMID 11971081 2002 Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation.

PMID 11708988 2001 The genetic and pathological classification of familial frontotemporal dementia.

PMID 11912108 2002 Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.

PMID 27439681 2016 We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.

PMID 11756436 2002 Functional characterization of FTDP-17 tau gene mutations through their effects on Xenopus oocyte maturation.

PMID 25592136 2015 Investigating degeneration of the retina in young and aged tau P301L mice.

PMID 22723997 2012 Genotype-specific differences between mouse CNS stem cell lines expressing frontotemporal dementia mutant or wild type human tau.

PMID 22022446 2011 Age-related impairment of ultrasonic vocalization in Tau.P301L mice: possible implication for progressive language disorders.

PMID 26519432 2016 Hyperactivity with Agitative-Like Behavior in a Mouse Tauopathy Model.

PMID 26269332 2015 The Human Tau Interactome: Binding to the Ribonucleoproteome, and Impaired Binding of the Proline-to-Leucine Mutant at Position 301 (P301L) to Chaperones and the Proteasome.

rs17563986 in MAPT gene and Intelligence PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs17563986 in MAPT gene and Lung Diseases, Interstitial PMID 23583980 2013 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

rs1560312 in MAPT gene and Major Depressive Disorder PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs1560312 in MAPT gene and Mood Disorders PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs62063281 in MAPT gene and Osteoarthritis of hip PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs919462 in MAPT gene and Other alopecia PMID 29146897 2017 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk.

rs10445337 in MAPT gene and Parkinson Disease PMID 22438815 2012 Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

PMID 19915575 2009 Genome-wide association study reveals genetic risk underlying Parkinson's disease.

PMID 21738487 2011 Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

PMID 24842889 2014 Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.

PMID 25064009 2014 Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.

PMID 28892059 2017 A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.

PMID 21044948 2011 Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

rs63750129 in MAPT gene and Pick Disease of the Brain PMID 10604746 1999 Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits.

PMID 11117542 2000 Pick's disease is associated with mutations in the tau gene.

PMID 11089577 2000 Taken together, the present findings indicate that the K257T mutation in Tau can cause a dementing condition similar to Pick's disease.

PMID 11601501 2001 Pick's disease associated with the novel Tau gene mutation K369I.

PMID 11891833 2002 A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.

PMID 11089577 2000 Tau gene mutation K257T causes a tauopathy similar to Pick's disease.

PMID 10604746 1999 Taken together, the present findings indicate that the G389R mutation in Tau can cause a dementing condition that closely resembles Pick's disease.

PMID 11891833 2002 A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.

rs10445337 in MAPT gene and Primary biliary cirrhosis PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

rs242557 in MAPT gene and Progressive supranuclear palsy PMID 21685912 2011 Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

PMID 31059154 2019 Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.

rs242562 in MAPT gene and QRS complex feature PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.

rs58879558 in MAPT gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3785880 in MAPT gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1991556 in MAPT gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17651507 in MAPT gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.