MAPT Chromosome 17
Microtubule associated protein tau
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What This Gene Does
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]
Gene Info
Gene Group
Protein phosphatase 1 regulatory subunits
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000186868
Associated Conditions (18)
Frontotemporal dementia
MAPT-Related Spectrum Disorders
MAPT-related disorder
Inborn genetic diseases
Semantic dementia
Progressive supranuclear palsy-parkinsonism syndrome
Alzheimer disease
Mental deterioration
Memory impairment
Dementia
Adult onset neurodegenerative disorder
Supranuclear palsy
progressive
1
Pick disease
Parkinson disease
late-onset
Progressive supranuclear ophthalmoplegia
Key Variants
RS115492908
Conflicting classifications of pathogenicity
Frontotemporal dementia, MAPT-Related Spectrum Disorders, Frontotemporal dementia
Health Risk
RS1247408229
Conflicting classifications of pathogenicity
Frontotemporal dementia, Frontotemporal dementia
Health Risk
RS138293088
Conflicting classifications of pathogenicity
Frontotemporal dementia, MAPT-Related Spectrum Disorders, Frontotemporal dementia
Health Risk
RS138984221
Conflicting classifications of pathogenicity
MAPT-Related Spectrum Disorders, Frontotemporal dementia, MAPT-Related Spectrum Disorders
Health Risk
RS1401903524
Conflicting classifications of pathogenicity
Health Risk
RS143138715
Conflicting classifications of pathogenicity
Frontotemporal dementia, MAPT-related disorder, Frontotemporal dementia
Health Risk
RS143624519
Conflicting classifications of pathogenicity
MAPT-Related Spectrum Disorders, Frontotemporal dementia, MAPT-Related Spectrum Disorders
Health Risk
RS145897970
Conflicting classifications of pathogenicity
Frontotemporal dementia, Frontotemporal dementia
Health Risk
RS148501218
Conflicting classifications of pathogenicity
MAPT-Related Spectrum Disorders, Frontotemporal dementia, MAPT-Related Spectrum Disorders
Health Risk
RS150420625
Conflicting classifications of pathogenicity
Inborn genetic diseases, Frontotemporal dementia, Inborn genetic diseases
Health Risk
RS1568339821
Conflicting classifications of pathogenicity
Frontotemporal dementia, Frontotemporal dementia
Health Risk
RS199644237
Conflicting classifications of pathogenicity
MAPT-related disorder, MAPT-related disorder
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115492908 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia, MAPT-Related Spectrum Disorders, Frontotemporal dementia |
| RS1247408229 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia, Frontotemporal dementia |
| RS138293088 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia, MAPT-Related Spectrum Disorders, Frontotemporal dementia |
| RS138984221 | Health Risk | Conflicting classifications of pathogenicity | MAPT-Related Spectrum Disorders, Frontotemporal dementia, MAPT-Related Spectrum Disorders |
| RS1401903524 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143138715 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia, MAPT-related disorder, Frontotemporal dementia |
| RS143624519 | Health Risk | Conflicting classifications of pathogenicity | MAPT-Related Spectrum Disorders, Frontotemporal dementia, MAPT-Related Spectrum Disorders |
| RS145897970 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia, Frontotemporal dementia |
| RS148501218 | Health Risk | Conflicting classifications of pathogenicity | MAPT-Related Spectrum Disorders, Frontotemporal dementia, MAPT-Related Spectrum Disorders |
| RS150420625 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Frontotemporal dementia, Inborn genetic diseases |
| RS1568339821 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia, Frontotemporal dementia |
| RS199644237 | Health Risk | Conflicting classifications of pathogenicity | MAPT-related disorder, MAPT-related disorder |
| RS199759929 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia, Frontotemporal dementia |
| RS200099007 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201861969 | Health Risk | Conflicting classifications of pathogenicity | MAPT-related disorder, Semantic dementia, MAPT-related disorder |
| RS368845248 | Health Risk | Conflicting classifications of pathogenicity | MAPT-Related Spectrum Disorders, Frontotemporal dementia, MAPT-Related Spectrum Disorders |
| RS377720312 | Health Risk | Conflicting classifications of pathogenicity | MAPT-Related Spectrum Disorders, Frontotemporal dementia, MAPT-Related Spectrum Disorders |
| RS568067396 | Health Risk | Conflicting classifications of pathogenicity | MAPT-Related Spectrum Disorders, Inborn genetic diseases, MAPT-Related Spectrum Disorders |
| RS63750096 | Health Risk | Conflicting classifications of pathogenicity | MAPT-Related Spectrum Disorders, Frontotemporal dementia, MAPT-related disorder |
| RS63750162 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia, Frontotemporal dementia |
| RS63750688 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia, Frontotemporal dementia |
| RS63750869 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia, MAPT-related disorder, Frontotemporal dementia |
| RS746312281 | Health Risk | Conflicting classifications of pathogenicity | MAPT-Related Spectrum Disorders, Frontotemporal dementia, MAPT-Related Spectrum Disorders |
| RS747178896 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766166210 | Health Risk | Conflicting classifications of pathogenicity | MAPT-Related Spectrum Disorders, Frontotemporal dementia, MAPT-Related Spectrum Disorders |
| RS769331823 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia, Inborn genetic diseases, Frontotemporal dementia |
| RS771662961 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia, Frontotemporal dementia |
| RS776821664 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS979650971 | Health Risk | Conflicting classifications of pathogenicity | MAPT-Related Spectrum Disorders, Frontotemporal dementia, MAPT-related disorder |
| RS1568339995 | Health Risk | Likely pathogenic | Alzheimer disease, Alzheimer disease |
| RS2076339915 | Health Risk | Likely pathogenic | — |
| RS63751011 | Health Risk | Likely pathogenic | Frontotemporal dementia, Mental deterioration, Memory impairment |
| RS63751438 | Health Risk | Likely pathogenic | Frontotemporal dementia, Supranuclear palsy, progressive |
| RS1568327531 | Health Risk | Pathogenic | Frontotemporal dementia, Frontotemporal dementia |
| RS1598408336 | Health Risk | Pathogenic | Frontotemporal dementia, Frontotemporal dementia, Frontotemporal dementia |
| RS63749855 | Health Risk | Pathogenic | — |
| RS63749974 | Health Risk | Pathogenic | Frontotemporal dementia, Frontotemporal dementia |
| RS63750013 | Health Risk | Pathogenic | Frontotemporal dementia, Frontotemporal dementia |
| RS63750092 | Health Risk | Pathogenic | Frontotemporal dementia, Frontotemporal dementia |
| RS63750129 | Health Risk | Pathogenic | Pick disease, Pick disease |
| RS63750308 | Health Risk | Pathogenic | Frontotemporal dementia, Frontotemporal dementia |
| RS63750349 | Health Risk | Pathogenic | Frontotemporal dementia, Frontotemporal dementia |
| RS63750376 | Health Risk | Pathogenic | Frontotemporal dementia, Frontotemporal dementia |
| RS63750424 | Health Risk | Pathogenic | Frontotemporal dementia, MAPT-related disorder, Supranuclear palsy |
| RS63750425 | Health Risk | Pathogenic | Supranuclear palsy, progressive, 1 |
| RS63750570 | Health Risk | Pathogenic | Frontotemporal dementia, Frontotemporal dementia |
| RS63750635 | Health Risk | Pathogenic | Pick disease, Frontotemporal dementia, Pick disease |
| RS63750711 | Health Risk | Pathogenic | Frontotemporal dementia, Frontotemporal dementia |
| RS63750756 | Health Risk | Pathogenic | Frontotemporal dementia, Pick disease, Parkinson disease |
| RS63750912 | Health Risk | Pathogenic | Frontotemporal dementia, Frontotemporal dementia |