MAPT (microtubule associated protein tau)

2003-11-01  

Identity

HGNC
LOCATION
17q21.31
LOCUSID
ALIAS
DDPAC,FTDP-17,MAPTL,MSTD,MTBT1,MTBT2,PPND,PPP1R103,TAU,tau-40
FUSION GENES

Other Information

Locus ID:

NCBI: 4137
MIM: 157140
HGNC: 6893
Ensembl: ENSG00000186868

Variants:

dbSNP: 4137
ClinVar: 4137
TCGA: ENSG00000186868
COSMIC: MAPT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186868ENST00000262410P10636
ENSG00000186868ENST00000262410A0A024R9Y1
ENSG00000186868ENST00000334239P10636
ENSG00000186868ENST00000340799P10636
ENSG00000186868ENST00000344290P10636
ENSG00000186868ENST00000351559P10636
ENSG00000186868ENST00000351559A0A024RA17
ENSG00000186868ENST00000415613P10636
ENSG00000186868ENST00000420682P10636
ENSG00000186868ENST00000431008P10636
ENSG00000186868ENST00000446361P10636
ENSG00000186868ENST00000446361A0A024R9Y0
ENSG00000186868ENST00000535772P10636
ENSG00000186868ENST00000571311I3L2Z2
ENSG00000186868ENST00000571987P10636
ENSG00000186868ENST00000571987A0A024R9Y1
ENSG00000186868ENST00000574436P10636
ENSG00000186868ENST00000574436A0A024RA17

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Alzheimer's diseaseKEGGko05010
MAPK signaling pathwayKEGGhsa04010
Alzheimer's diseaseKEGGhsa05010
Programmed Cell DeathREACTOMER-HSA-5357801
ApoptosisREACTOMER-HSA-109581
Apoptotic execution phaseREACTOMER-HSA-75153
Apoptotic cleavage of cellular proteinsREACTOMER-HSA-111465
Caspase-mediated cleavage of cytoskeletal proteinsREACTOMER-HSA-264870

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
170848152006TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.713
199155752009Genome-wide association study reveals genetic risk underlying Parkinson's disease.697
160207372005Tau suppression in a neurodegenerative mouse model improves memory function.640
223124442012Trans-synaptic spread of tau pathology in vivo.389
220572752012Exosome-associated tau is secreted in tauopathy models and is selectively phosphorylated in cerebrospinal fluid in early Alzheimer disease.285
248570202014Distinct tau prion strains propagate in cells and mice and define different tauopathies.285
236840852013Tau pathology and neurodegeneration.277
244934632014Amyloid-β and tau: the trigger and bullet in Alzheimer disease pathogenesis.270
286787752017Cryo-EM structures of tau filaments from Alzheimer's disease.270
207111772010Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.266

Citation

Dessen P

MAPT (microtubule associated protein tau)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41299/mapt-(microtubule-associated-protein-tau)