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MAPT - ENSG00000186868

microtubule associated protein tau

Also known as: MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103

Location: chr17:43,971,748-44,105,700

Gene Type: protein coding

More information
NCBI Gene
4137
HUGO
HGNC:6893
Ensembl
ENSG00000186868
VEGA
OTTHUMG00000168833
OMIM
157140
UniProtKB
P10636

Genomic Context

The genome browser snapshot is fully interactive. Mouse over track elements for more information. Click and drag to move tracks. Click and drag on top positional guide to zoom to a sub-region.

To add tracks, use the provided link to switch to the full genome browser view.

Gene-based Trait Associations

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ADSP WES: Alzheimer's Disease ADSP

Results from gene-level rare and functional variant aggregation tests for association to AD supported by significane of p < 0.5 / #genes.

Individual score test statistics for rare, predicted functional, and loss of function variants colocated with the gene were aggregated to compute gene level p-values.

See NIAGADS Accession NG00065 for more information.

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Accession Population N SNPs p-value Sign. Level rho CMAF CMAC Covariates Variant Filter Caveats
NG00065 Meta 66 0.019 N/A 0 0.070 1525.2 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Meta 66 0.030 N/A 0 0.070 1525.2 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 European 62 0.049 N/A 0 0.068 1413.2 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Meta 66 0.060 N/A 0 0.070 1525.2 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 62 0.064 N/A 1 0.068 1413.2 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 European 62 0.135 N/A 0 0.068 1413.2 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 4 0.318 N/A 0 2.9e-04 6.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes LOF
NG00065 European 4 0.318 N/A 1 2.9e-04 6.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH
NG00065 European 4 0.323 N/A 0 2.9e-04 6.0 PCs and sequencing center LOF
NG00065 European 4 0.323 N/A 0 2.9e-04 6.0 PCs and sequencing center VEP HIGH
NG00065 European 4 0.450 N/A 0 2.9e-04 6.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH
NG00065 European 4 0.450 N/A 0 2.9e-04 6.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF
NG00065 Caribbean Hispanic 10 0.523 N/A 0 0.087 69.1 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 10 0.537 N/A 0 0.087 69.1 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 10 0.553 N/A 0 0.087 69.1 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the MAPT gene.

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The MAPT gene contains 7,791 variants records (corresponding to 7,404 unique genomic positions).

The following variants, contained within ±100kb of MAPT, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of MAPT that have genome-wide significance in a NIAGADS Alzheimer's Disease GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

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Relative Position Variant ADSP? Allele p-Value Track Accession
in gene N/A 8.5e-17 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 1) NG00065
in gene N/A 8.5e-17 ADSP Single-Variant Risk Association: meta analysis (Model 1) NG00065
in gene N/A 8.5e-17 ADSP Single-Variant Risk Association: European (Model 1) NG00065
in gene N/A 1.2e-14 ADSP Single-Variant Risk Association: European (Model 2) NG00065
in gene N/A 1.2e-14 ADSP Single-Variant Risk Association: Caribbean Hispanic (Model 2) NG00065
in gene N/A 1.2e-14 ADSP Single-Variant Risk Association: meta analysis (Model 2) NG00065

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of MAPT that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of MAPT, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of MAPT that have genome-wide significance in a NIAGADS GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Other Traits (incl. related neuropathologies and AD biomarkers)

Variants contained within ±100kb of MAPT that are associated with a trait in the NHGRI GWAS Catalog.

Functional Genomics

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Explore all functional genomics annotations within the region of the MAPT gene (chr17:43971748-44105700)

Transcription Factor Binding Site Overlap in Gene Promoter Region (ENCODE ChIP-SEQ)

ChIP-Seq sites for transcription factor binding (from selected brain-relevant ENCODE tracks) within the promoter region of this gene. See methods for more information.

Functional Annotation

Gene Ontology

Functional annotations were obtained from UniProt-GOA gene association files.

Click on a term accession number to view term details at the Gene Ontology Consortium.

KEGG Pathways

Click on a pathway accession number to view term details at KEGG.

Click on the number in the Find Similar column to get a list of genes annotated by the associated pathway.

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Pathway KEGG Accession Graph
Alzheimer's disease hsa05010
MAPK signaling pathway hsa04010