|
Gene id |
4137 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
MAPT Gene UCSC Ensembl |
|
Aliases |
DDPAC, FTDP-17, MAPTL, MSTD, MTBT1, MTBT2, PPND, PPP1R103, TAU |
|
Gene name |
microtubule associated protein tau |
|
Alternate names |
microtubule-associated protein tau, G protein beta1/gamma2 subunit-interacting factor 1, PHF-tau, neurofibrillary tangle protein, paired helical filament-tau, protein phosphatase 1, regulatory subunit 103, |
|
Gene location |
17q21.31 (45894381: 46028333) Exons: 15 NC_000001.11
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
157140 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
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| Associated diseases |
References |
| Frontotemporal lobar degeneration | KEGG: H00078 |
| Alzheimer's disease | GAD: 10643798 |
| Parkinson disease | GAD: 10665497 |
| Amyotrophic lateral sclerosis (ALS) | KEGG: H00058 |
| Dementia | GAD: 12756133 |
| Jakob-Creutzfeldt disease | GAD: 12212558 |
| Pick's disease | GAD: 11166961 |
| Primary progressive aphasia | GAD: 12629248 |
| Deacetylation of microtubules in mouse spermatogenic cells during meiosis | MIK: 24768523 |
| Progressive supranuclear palsy | KEGG: H00077 |
| Deacetylation of microtubules in mouse spermatogenic cells during meiosis | MIK: 24768523 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
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|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 24768523 |
Deacetylat
ion of mic
rotubules
in mouse s
permatogen
ic cells d
uring meio
sis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
28 men with az
oospermia
|
Male infertility |
Microarray
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|