MAPT
microtubule associated protein tau
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
Biological Domains
APP Metabolism, Apoptosis, Autophagy, DNA Repair, Epigenetic, Immune Response, Lipid Metabolism, Mitochondrial Metabolism, Oxidative Stress, Proteostasis, Structural Stabilization, Synapse, Tau Homeostasis
Pharos Class
Tclin
Also known as
ENSG00000186868 (Ensembl Release 115)
UNIPROTKB P10636
DDPAC, FTD1, FTDP-17, MAPTL, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, Tau-PHF6, tau-40
Summary of Evidence
This tab shows an overview of how the selected gene is associated with AD.
Genetic Association with LOAD
Indicates whether or not this gene shows significant genetic association with Late Onset AD (LOAD) based on evidence from multiple studies compiled by the ADSP Gene Verification CommitteeFalseBrain eQTL
Indicates whether or not this gene locus has a significant expression Quantitative Trait Locus (eQTL) based on an AMP-AD consortium studyTrueRNA Expression Change in AD Brain
Indicates whether or not this gene shows significant differential expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.TrueProtein Expression Change in AD Brain
Indicates whether or not this gene shows significant differential protein expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.TrueNominated Target
Indicates whether or not this gene has been submitted as a nominated target to Agora.False
AD Risk Scores
About AD Risk Scores
The TREAT-AD Center at Emory-Sage-SGC has developed a Target Risk Score (TRS) to objectively rank the potential involvement of specific genes in AD. The TRS is derived by summing two component risk scores, the Genetic Risk Score and the Multi-omic Risk Score, each of which is derived from a meta-analysis of multiple harmonized data sets. More information about the methodology used to define these risk scores is available here.
AD Risk Scores for MAPT
The TRS for MAPT, along with the component Genetic and Multi-omic Risk Scores, is shown here. The scores for MAPT are superimposed on the genome-wide score distributions. If No Data is Currently Available is displayed for a score, that score was not calculated for MAPT.
Biological Domain Classification
About Biological Domains
A biological domain represents a standardized area of biology defined by a set of discrete, biologically coherent GO terms. The TREAT-AD Center at Emory-Sage-SGC has defined nineteen biological domains associated with AD, and objectively mapped genes to those biological domains using GO term annotations. More information about the methodology used to define AD biological domains, and to generate genome-wide biological domain mappings, is available here.
Biological Domains for MAPT
Select a biological domain on the left to see the list of GO terms that link MAPT to it on the right. The percentage value displayed next to the currently selected biological domain indicates the proportion of MAPT's total unique GO terms that map to the biological domain. The ratio displayed on the right indicates how many of the biological domain's total GO terms MAPT is annotated with.