MAPT microtubule associated protein tau
Gene ID: 4137, updated on 14-Nov-2024Gene type: protein coding
Also known as: TAU; FTD1; MSTD; PPND; DDPAC; MAPTL; MTBT1; MTBT2; tau-40; FTDP-17; PPP1R103; Tau-PHF6
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- Go to complete Gene record for MAPT
- Go to Variation Viewer for MAPT variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. GeneReviews: Not available | |
| Common variants at 12q15 and 12q24 are associated with infant head circumference. GeneReviews: Not available | |
| Common variants at 6q22 and 17q21 are associated with intracranial volume. GeneReviews: Not available | |
| Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. GeneReviews: Not available | |
| Frontotemporal dementia | See labs |
| Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. GeneReviews: Not available | |
| Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. GeneReviews: Not available | |
| Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. GeneReviews: Not available | |
| Genome-wide association study reveals genetic risk underlying Parkinson's disease. GeneReviews: Not available | |
| Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Identification of a novel Parkinson's disease locus via stratified genome-wide association study. GeneReviews: Not available | |
| Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. GeneReviews: Not available | |
| Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. GeneReviews: Not available | |
| Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. GeneReviews: Not available | |
| Parkinson disease, late-onset | See labs |
| Pick disease | See labs |
| Progressive supranuclear palsy-parkinsonism syndrome | See labs |
| Supranuclear palsy, progressive, 1 | See labs |
| Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-05-08) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-05-08) ClinGen Genome Curation Page |
Genomic context
- Location:
- 17q21.31
- Sequence:
- Chromosome: 17; NC_000017.11 (45894554..46028334)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MAPT variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/MAPT genetic mutations
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MAPT database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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