Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4137
Gene name Gene Name - the full gene name approved by the HGNC.
Microtubule associated protein tau
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAPT
Synonyms (NCBI Gene) Gene synonyms aliases
DDPAC, FTD1, FTDP-17, MAPTL, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU, Tau-PHF6, tau-40
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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 stag
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs63750013 G>A,C Pathogenic Intron variant
rs63750092 A>T Pathogenic, not-provided Non coding transcript variant, missense variant, coding sequence variant
rs63750129 A>C Pathogenic, not-provided Non coding transcript variant, missense variant, coding sequence variant
rs63750162 C>G Likely-pathogenic Intron variant
rs63750308 A>G Pathogenic, not-provided Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT007189 hsa-miR-34c-5p Luciferase reporter assay 23423488
MIRT007189 hsa-miR-34c-5p Luciferase reporter assay 23423488
MIRT723044 hsa-miR-4793-5p HITS-CLIP 19536157
MIRT723043 hsa-miR-1915-5p HITS-CLIP 19536157
MIRT723042 hsa-miR-548q HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0000226 Process Microtubule cytoskeleton organization IDA 1057175
GO:0000226 Process Microtubule cytoskeleton organization NAS 28377597
GO:0001774 Process Microglial cell activation TAS 26363795
GO:0003677 Function DNA binding ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
157140 6893 ENSG00000186868
Protein
UniProt ID P10636
Protein name Microtubule-associated protein tau (Neurofibrillary tangle protein) (Paired helical filament-tau) (PHF-tau)
Protein function Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity (PubMed:21985311). The C-terminus binds axonal microtubules while the N-terminus binds neural plasma membrane components
PDB 1I8H , 2MZ7 , 2ON9 , 3OVL , 4E0M , 4E0N , 4E0O , 4FL5 , 4GLR , 4NP8 , 4TQE , 4Y32 , 4Y3B , 4Y5I , 5DMG , 5E2V , 5E2W , 5HF3 , 5K7N , 5MO3 , 5MP1 , 5MP3 , 5MP5 , 5N5A , 5N5B , 5NVB , 5O3L , 5O3O , 5O3T , 5V5B , 5V5C , 5ZIA , 5ZV3 , 6BB4 , 6CVJ , 6CVN , 6DC8 , 6DC9 , 6DCA , 6FBW , 6FI5 , 6GK7 , 6GK8 , 6GX5 , 6H06 , 6HRE , 6HRF , 6LRA , 6N4P , 6NK4 , 6NWP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00418 Tubulin-binding 561 591 Tau and MAP protein, tubulin-binding repeat Family
PF00418 Tubulin-binding 592 622 Tau and MAP protein, tubulin-binding repeat Family
PF00418 Tubulin-binding 623 653 Tau and MAP protein, tubulin-binding repeat Family
PF00418 Tubulin-binding 654 685 Tau and MAP protein, tubulin-binding repeat Family
Tissue specificity TISSUE SPECIFICITY: Expressed in neurons. Isoform PNS-tau is expressed in the peripheral nervous system while the others are expressed in the central nervous system.
Sequence
MAEPRQEFEVMEDHAGTYGLGDRKDQGGYTMHQDQEGDTDAGLKESPLQTPTEDGSEEPG
SETSDAKSTPTAEDVTAPLVDEGAPGKQAAAQPHTEIPEGTTAEEAGIGDTPSLEDEAAG
HVTQEPESGKVVQEGFLREPGPPGLSHQLMSGMPGAPLLPEGPREATRQPSGTGPEDTEG
GRHAPELLKHQLLGDLHQEGPPLKGAGGKERPGSKEEVDEDRDVDESSPQDSPPSKASPA
QDGRPPQTAAREATSIPGFPAEGAIPLPVDFLSKVSTEIPASEPDGPSVGRAKGQDAPLE
FTFHVEITPNVQKEQAHSEEHLGRAAFPGAPGEGPEARGPSLGEDTKEADLPEPSEKQPA
AAPRGKPVSRVPQLKARMVSKSKDGTGSDDKKAKTSTRSSAKTLKNRPCLSPKHPTPGSS
DPLIQPSSPAVCPEPPSSPKYVSSVTSRTGSSGAKEMKLKGADGKTKIATPRGAAPPGQK
GQANATRIPAKTPPAPKTPPSSGEPPKSGDRSGYSSPGSPGTPGSRSRTPSLPTPPTREP
KKVAVVRTPPKSPSSAKSRLQTAPVPMPDLKNVKSKIGSTENLKHQPGGGKVQIINKKLD
LSNVQSKCGSKDNIKHVPGGGS
VQIVYKPVDLSKVTSKCGSLGNIHHKPGGGQVEVKSEK
LDFKDRVQSKIGSLDNITHVPGGGN
KKIETHKLTFRENAKAKTDHGAEIVYKSPVVSGDT
SPRHLSNVSSTGSIDMVDSPQLATLADEVSASLAKQGL
Sequence length 758
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
Alzheimer disease
Parkinson disease
Pathways of neurodegeneration - multiple diseases
  Caspase-mediated cleavage of cytoskeletal proteins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Frontotemporal dementia frontotemporal dementia rs63750092, rs1598408336, rs1568327531, rs63749974, rs63750570, rs63750568, rs63750756, rs63750013, rs63751165, rs63751394, rs63750512, rs63750308, rs63751438, rs63751011, rs63750912
View all (9 more)
N/A
Parkinson disease parkinson disease, late-onset rs63751392 N/A
alzheimer disease Alzheimer disease rs1568339995 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Biliary Cirrhosis Primary biliary cirrhosis N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Corticobasal Degeneration Corticobasal degeneration N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 14997933, 24112793, 27834776, 29053874, 29435558, 30021611, 31175300, 31495601, 32161412, 32620704, 32808011, 32960680, 33439987, 33443136, 34002449
View all (9 more)
Abnormalities Drug Induced Associate 17712160, 31585367, 37485642, 8919303
Absent radii and thrombocytopenia Associate 40318118
Acquired CJD Associate 16361602
Actin Accumulation Myopathy Associate 12023276
Adenocarcinoma Associate 37010714
Aging Premature Associate 37110517
Agraphia Associate 23121543
Alcohol Amnestic Disorder Associate 34588422
Alzheimer Disease Associate 10037497, 10214944, 10599054, 10805776, 10840038, 11013236, 11303790, 11438574, 11852060, 12023276, 12032355, 12065626, 12414518, 12580546, 12801934
View all (760 more)