Gene Gene information from NCBI Gene database.
Entrez ID 4137
Gene name Microtubule associated protein tau
Gene symbol MAPT
Synonyms (NCBI Gene)
DDPACFTD1FTDP-17MAPTLMSTDMTBT1MTBT2PPNDPPP1R103TAUTau-PHF6tau-40
Chromosome 17
Chromosome location 17q21.31
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 stag
SNPs SNP information provided by dbSNP.
35
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.
386
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
146
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
157140 6893 ENSG00000186868
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
84
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Alzheimer disease Likely pathogenic rs1568339995 RCV000736259
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dementia Pathogenic rs63751011 RCV000626752
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal dementia Pathogenic; Likely pathogenic rs63749974, rs63750568, rs63750013, rs63751394, rs63750308, rs63751011, rs63750095, rs1598408336, rs63751273, rs63750376, rs63750424, rs63750972, rs1568327531, rs63750570, rs63750756
View all (9 more)
RCV002513906
RCV000989937
RCV005089559
RCV000015333
RCV000015318
View all (21 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MAPT-related disorder Pathogenic rs63751011, rs63751273, rs63750424 RCV003415858
RCV003407335
RCV004742226
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATAXIA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abulia Abulia HPO_DG
★☆☆☆☆
Found in Text Mining only
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 12852432, 14517953, 15750215, 20157255, 21715663, 25352456, 27117003
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 19467705
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 11836553
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 19467705
★☆☆☆☆
Found in Text Mining only
Adult Learning Disorders Learning Disorders CTD_human_DG 22430071, 24556215
★☆☆☆☆
Found in Text Mining only
Age-Related Memory Disorders Age-Related Memory Disorders CTD_human_DG 12368474, 22430071, 24556215, 29203278, 29860433
★☆☆☆☆
Found in Text Mining only
Akinesia Akinesia HPO_DG
★☆☆☆☆
Found in Text Mining only
Alexia Alexia HPO_DG
★☆☆☆☆
Found in Text Mining only