MAPT |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MAPT (HGNC:6893) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- microtubule associated protein tau
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DDPAC, MAPTL
- Alias symbols
- MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103, tau-40, Tau-PHF6
- %HI
- 2.65(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.72(Read more about gnomAD LOEUF score)
- Cytoband
- 17q21.31
- Genomic Coordinates
-
GRCh37/hg19: chr17:43971920-44105700 NCBI Ensembl UCSC GRCh38/hg38: chr17:45894554-46028334 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001377265.1 ENST00000262410.10 (Read more about MANE Select)
- 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, suggesting that tau functions as a linker protein between both (PubMed:21985311, PubMed:32961270). Axonal polarity is predetermined by TAU/MAPT localization (in the neuronal cell) in the domain of the cell body defined by the centrosome. The short isofo... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-12143
ClinGen Curation ID:
CCID:007435
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Related Links:
Last Evaluated:
05/08/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Kitsiou-Tzeli et al. (2012) report a de novo 248kb deletion involving a portion of MAPT and KIAA1267 in a patient with ASD and no speech. The patient also had a maternally inherited 168kb deletion of chrX including PCDH11X. (PMID: 22037486). The involvement of KIAA1267(KANSL1) is noteworthy in light of a recent paper (PMID:22544367) associating haploinsufficiency of KANSL1, and not MAPT, with the 17q21.31 microdeletion synrdome.
Rare mutations in the gene encoding for tau (MAPT) have been associated with frontotemporal dementia-spectrum disorders (MIM:600274).
PMID:19263483: A heterozygous genomic deletion removing exons 6 to 9 of the microtubule associated protein tau (MAPT) gene, predicting to result into a truncated protein lacking the first microtubule binding domain, was detected in a patient with frontotemporal dementia (FTD).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)