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Aliases for MAPT Gene

Aliases for MAPT Gene

  • Microtubule Associated Protein Tau 2 3 5
  • G Protein Beta1/Gamma2 Subunit-Interacting Factor 1 2 3
  • Protein Phosphatase 1, Regulatory Subunit 103 2 3
  • Neurofibrillary Tangle Protein 3 4
  • Paired Helical Filament-Tau 3 4
  • PHF-Tau 3 4
  • MAPTL 3 4
  • MTBT1 3 4
  • TAU 3 4
  • Microtubule-Associated Protein Tau, Isoform 4 2
  • Microtubule-Associated Protein Tau 3
  • PPP1R103 3
  • FTDP-17 3
  • MTBT2 3
  • DDPAC 3
  • MSTD 3
  • PPND 3

External Ids for MAPT Gene

Previous HGNC Symbols for MAPT Gene

  • DDPAC
  • MAPTL

Previous GeneCards Identifiers for MAPT Gene

  • GC17P043566
  • GC17P046217
  • GC17P043982
  • GC17P044447
  • GC17P041327
  • GC17P039635
  • GC17P043971

Summaries for MAPT Gene

Entrez Gene Summary for MAPT 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 stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAPT Gene

MAPT (Microtubule Associated Protein Tau) is a Protein Coding gene. Diseases associated with MAPT include Frontotemporal Dementia and Supranuclear Palsy, Progressive, 1. Among its related pathways are Reelin Pathway (Cajal-Retzius cells) and Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include protein kinase binding and microtubule binding. An important paralog of this gene is MAP2.

UniProtKB/Swiss-Prot for MAPT Gene

  • Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. 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. 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 isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization.

Gene Wiki entry for MAPT Gene

Additional gene information for MAPT Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAPT Gene

Genomics for MAPT Gene

GeneHancer (GH) Regulatory Elements for MAPT Gene

Promoters and enhancers for MAPT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J045893 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.9 866 2.9 HDGF ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF213 ZNF143 GC17P045896 MAPT MAPT-AS1 MAPT-IT1 LINC02210 MAPK8IP1P1 ENSG00000262372 KANSL1 ARL17A ARL17B
GH17J045951 Promoter 1 EPDnew 650.2 +57.6 57616 0.1 MEIS2 ATF1 ARNT TAL1 CC2D1A TCF12 NCOR1 EGR1 CBFA2T2 TRIM24 MAPT LOC105371800 GC17P045970 PIRC95
GH17J045962 Promoter 0.5 EPDnew 650.2 +67.8 67845 0.1 MAPT GC17P045970 LOC105371800 PIRC95
GH17J045948 Enhancer 1.4 Ensembl ENCODE dbSUPER 39.2 +54.5 54491 1.5 HDGF ARNT ARID4B DMAP1 ZNF143 FOS SP5 MXD4 REST ZNF592 LINC02210 MAPT LOC105371800 GC17P045970 PIRC95
GH17J045941 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 46.1 +47.9 47889 0.9 FOXA2 MAX RAD21 YY1 ZNF366 EGR1 HNF4G RXRA REST FOXA1 LINC02210 MAPT STH CRHR1 LOC105371800 GC17P045970 PIRC95
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAPT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAPT gene promoter:
  • ATF-2
  • CREB

Genomic Locations for MAPT Gene

Genomic Locations for MAPT Gene
chr17:45,894,382-46,028,334
(GRCh38/hg38)
Size:
133,953 bases
Orientation:
Plus strand
chr17:43,971,748-44,105,700
(GRCh37/hg19)
Size:
133,953 bases
Orientation:
Plus strand

Genomic View for MAPT Gene

Genes around MAPT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAPT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAPT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAPT Gene

Proteins for MAPT Gene

  • Protein details for MAPT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10636-TAU_HUMAN
    Recommended name:
    Microtubule-associated protein tau
    Protein Accession:
    P10636
    Secondary Accessions:
    • P18518
    • Q14799
    • Q15549
    • Q15550
    • Q15551
    • Q1RMF6
    • Q53YB1
    • Q5CZI7
    • Q5XWF0
    • Q6QT54
    • Q9UDJ3
    • Q9UMH0
    • Q9UQ96

    Protein attributes for MAPT Gene

    Size:
    758 amino acids
    Molecular mass:
    78928 Da
    Quaternary structure:
    • Interacts with PSMC2 through SQSTM1 (By similarity). Interacts with SQSTM1 when polyubiquitinated (PubMed:15953362). Interacts with FKBP4 (By similarity). Binds to CSNK1D (PubMed:14761950). Interacts with SGK1 (PubMed:16982696). Interacts with EPM2A; the interaction dephosphorylates MAPT at Ser-396 (PubMed:19542233).

    Three dimensional structures from OCA and Proteopedia for MAPT Gene

    Alternative splice isoforms for MAPT Gene

neXtProt entry for MAPT Gene

Post-translational modifications for MAPT Gene

  • Phosphorylation at serine and threonine residues in S-P or T-P motifs by proline-directed protein kinases (PDPK1: CDK1, CDK5, GSK3, MAPK) (only 2-3 sites per protein in interphase, seven-fold increase in mitosis, and in the form associated with paired helical filaments (PHF-tau)), and at serine residues in K-X-G-S motifs by MAP/microtubule affinity-regulating kinase (MARK1 or MARK2), causing detachment from microtubules, and their disassembly. Phosphorylation decreases with age. Phosphorylation within tau/MAPs repeat domain or in flanking regions seems to reduce tau/MAPs interaction with, respectively, microtubules or plasma membrane components. Phosphorylation on Ser-610, Ser-622, Ser-641 and Ser-673 in several isoforms during mitosis. Phosphorylation at Ser-548 by GSK3B reduces ability to bind and stabilize microtubules. Phosphorylation at Ser-579 by BRSK1 and BRSK2 in neurons affects ability to bind microtubules and plays a role in neuron polarization. Phosphorylated at Ser-554, Ser-579, Ser-602, Ser-606 and Ser-669 by PHK. Phosphorylation at Ser-214 by SGK1 mediates microtubule depolymerization and neurite formation in hippocampal neurons. There is a reciprocal down-regulation of phosphorylation and O-GlcNAcylation. Phosphorylation on Ser-717 completely abolishes the O-GlcNAcylation on this site, while phosphorylation on Ser-713 and Ser-721 reduces glycosylation by a factor of 2 and 4 respectively. Phosphorylation on Ser-721 is reduced by about 41.5% by GlcNAcylation on Ser-717. Dephosphorylated at several serine and threonine residues by the serine/threonine phosphatase PPP5C.
  • Polyubiquitinated. Requires functional TRAF6 and may provoke SQSTM1-dependent degradation by the proteasome (By similarity). PHF-tau can be modified by three different forms of polyubiquitination. Lys-48-linked polyubiquitination is the major form, Lys-6-linked and Lys-11-linked polyubiquitination also occur.
  • O-glycosylated. O-GlcNAcylation content is around 8.2%. There is reciprocal down-regulation of phosphorylation and O-GlcNAcylation. Phosphorylation on Ser-717 completely abolishes the O-GlcNAcylation on this site, while phosphorylation on Ser-713 and Ser-721 reduces O-GlcNAcylation by a factor of 2 and 4 respectively. O-GlcNAcylation on Ser-717 decreases the phosphorylation on Ser-721 by about 41.5%.
  • Glycation of PHF-tau, but not normal brain TAU/MAPT. Glycation is a non-enzymatic post-translational modification that involves a covalent linkage between a sugar and an amino group of a protein molecule forming ketoamine. Subsequent oxidation, fragmentation and/or cross-linking of ketoamine leads to the production of advanced glycation endproducts (AGES). Glycation may play a role in stabilizing PHF aggregation leading to tangle formation in AD.
  • Glycosylation at isoforms=2, 3, 4, 5, 6, 7, 8, 9717, posLast=686686, isoforms=2, 3, 4, 5, 6, 7, 8, 9670, posLast=664664, isoforms=6, 7, 8, 9598, posLast=597597, isoforms=2, 3, 4, 5, 6, 7, 8, 9576, isoforms=2, 3, 4, 5, 6, 7, 8, 9555, posLast=551551, isoforms=2, 3, 4, 5, 6, 7, 8, 9542, isoforms=2, 3, 4, 5, 6, 7, 8, 9525, posLast=491491, posLast=480480, posLast=467467, posLast=383383, and posLast=8787
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for MAPT Gene

Domains & Families for MAPT Gene

Gene Families for MAPT Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MAPT Gene

Suggested Antigen Peptide Sequences for MAPT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P10636

UniProtKB/Swiss-Prot:

TAU_HUMAN :
  • The tau/MAP repeat binds to tubulin. Type I isoforms contain 3 repeats while type II isoforms contain 4 repeats.
Domain:
  • The tau/MAP repeat binds to tubulin. Type I isoforms contain 3 repeats while type II isoforms contain 4 repeats.
genes like me logo Genes that share domains with MAPT: view

Function for MAPT Gene

Molecular function for MAPT Gene

UniProtKB/Swiss-Prot Function:
Promotes microtubule assembly and stability, and might be involved in the establishment and maintenance of neuronal polarity. 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. 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 isoforms allow plasticity of the cytoskeleton whereas the longer isoforms may preferentially play a role in its stabilization.
GENATLAS Biochemistry:
microtubule (beta) associated protein tau 1,primary component of paired helical filaments with six alternatively spliced forms in normal adult brain,regulating the transport of vesicles or organelles along microtubules,phosphorylated by CDK5 and other kinases with decrease of affinity for microtubules,forming tangles of paired helical filaments (PHF) consisting of hyperphosphorylated tau protein observed in Alzheimer disease (triplet PHF-tau),overexpressed in extraskeletal myxoid chondrosarcoma and chordoma

Phenotypes From GWAS Catalog for MAPT Gene

Gene Ontology (GO) - Molecular Function for MAPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 28386764
GO:0003680 AT DNA binding TAS 28386764
GO:0003690 double-stranded DNA binding TAS 28386764
GO:0003697 single-stranded DNA binding TAS 28386764
GO:0003723 RNA binding TAS 28386764
genes like me logo Genes that share ontologies with MAPT: view
genes like me logo Genes that share phenotypes with MAPT: view

Human Phenotype Ontology for MAPT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAPT Gene

MGI Knock Outs for MAPT:
  • Mapt Mapt<tm1b(EUCOMM)Hmgu>
  • Mapt Mapt<tm1(Mecp2)Jae>
  • Mapt Mapt<tm1Hnd>
  • Mapt Mapt<tm1(EGFP)Klt>
  • Mapt Mapt<tm1(MAPT)Vln>
  • Mapt Mapt<tm1Noh>
  • Mapt Mapt<tm1Aha>

Animal Model Products

Clone Products

  • Addgene plasmids for MAPT

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MAPT Gene

Localization for MAPT Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAPT Gene

Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell projection, axon. Note=Mostly found in the axons of neurons, in the cytosol and in association with plasma membrane components.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAPT gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS 28386764
GO:0005622 intracellular TAS 26996940
GO:0005634 nucleus TAS 28386764
GO:0005737 cytoplasm ISS,IDA --
GO:0005739 mitochondrion TAS 28386764
genes like me logo Genes that share ontologies with MAPT: view

Pathways & Interactions for MAPT Gene

genes like me logo Genes that share pathways with MAPT: view

SIGNOR curated interactions for MAPT Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MAPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization NAS 28377597
GO:0001774 microglial cell activation TAS 26363795
GO:0006475 internal protein amino acid acetylation TAS 28386764
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS 26363795
GO:0007267 cell-cell signaling NAS 28386764
genes like me logo Genes that share ontologies with MAPT: view

Drugs & Compounds for MAPT Gene

(69) Drugs for MAPT Gene - From: DrugBank, DGIdb, FDA Approved Drugs, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved, Investigational Pharma Target Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2040
Paclitaxel Approved, Vet_approved Pharma Target Tubulin and Bcl2 inhibitor, Taxanes 3027
Astemizole Approved, Withdrawn Pharma Pore Blocker, Inhibitor, Target 0
Lansoprazole Approved, Investigational Pharma Target H+,K+-ATPase inhibitor 225
Abraxane Approved October 2012 Pharma Taxanes 0

(40) Additional Compounds for MAPT Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MAPT: view

Transcripts for MAPT Gene

Unigene Clusters for MAPT Gene

Microtubule-associated protein tau:
Representative Sequences:

Clone Products

  • Addgene plasmids for MAPT

Alternative Splicing Database (ASD) splice patterns (SP) for MAPT Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b
SP1: -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - -
SP6: -
SP7: - -

Relevant External Links for MAPT Gene

GeneLoc Exon Structure for
MAPT
ECgene alternative splicing isoforms for
MAPT

Expression for MAPT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAPT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAPT Gene

This gene is overexpressed in Brain - Cortex (x5.6), Brain - Frontal Cortex (BA9) (x4.7), and Brain - Anterior cingulate cortex (BA24) (x4.4).

Protein differential expression in normal tissues from HIPED for MAPT Gene

This gene is overexpressed in Frontal cortex (25.6), Fetal Brain (19.3), and Brain (17.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAPT Gene



Protein tissue co-expression partners for MAPT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAPT Gene:

MAPT

SOURCE GeneReport for Unigene cluster for MAPT Gene:

Hs.101174

mRNA Expression by UniProt/SwissProt for MAPT Gene:

P10636-TAU_HUMAN
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.

Evidence on tissue expression from TISSUES for MAPT Gene

  • Nervous system(5)
  • Liver(4.3)
  • Lung(3.7)
  • Eye(3.4)
  • Muscle(3.1)
  • Kidney(2.5)
  • Heart(2.4)
  • Blood(2.2)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAPT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
Thorax:
  • chest wall
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • stomach
Pelvis:
  • pelvis
  • prostate
  • urinary bladder
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with MAPT: view

Orthologs for MAPT Gene

This gene was present in the common ancestor of animals.

Orthologs for MAPT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAPT 34 33
  • 99.48 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAPT 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAPT 34 33
  • 90.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MAPT 34 33
  • 87.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mapt 16 34 33
  • 84.92 (n)
rat
(Rattus norvegicus)
Mammalia Mapt 33
  • 83.87 (n)
oppossum
(Monodelphis domestica)
Mammalia MAPT 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAPT 34 33
  • 78.37 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAPT 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mapt 33
  • 72.99 (n)
zebrafish
(Danio rerio)
Actinopterygii mapta 34
  • 44 (a)
OneToMany
maptb 34
  • 27 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta tau 34
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ptl-1 34
  • 16 (a)
OneToMany
Species where no ortholog for MAPT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAPT Gene

ENSEMBL:
Gene Tree for MAPT (if available)
TreeFam:
Gene Tree for MAPT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAPT: view image

Paralogs for MAPT Gene

Paralogs for MAPT Gene

(3) SIMAP similar genes for MAPT Gene using alignment to 4 proteins:

  • TAU_HUMAN
  • I3L170_HUMAN
  • I3L2Z2_HUMAN
  • T1SGS4_HUMAN
genes like me logo Genes that share paralogs with MAPT: view

Variants for MAPT Gene

Sequence variations from dbSNP and Humsavar for MAPT Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1019760885 uncertain-significance, MAPT-Related Spectrum Disorders 45,894,678(+) G/T 5_prime_UTR_variant
rs1024033154 uncertain-significance, MAPT-Related Spectrum Disorders 46,027,028(+) G/A 3_prime_UTR_variant
rs1041617701 uncertain-significance, MAPT-Related Spectrum Disorders 46,026,422(+) C/T 3_prime_UTR_variant
rs10445337 not-provided, benign, not provided, not specified 45,990,034(+) T/C coding_sequence_variant, intron_variant, missense_variant
rs1044833240 uncertain-significance, MAPT-Related Spectrum Disorders 45,894,390(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MAPT Gene

Variant ID Type Subtype PubMed ID
dgv127e55 CNV gain 17911159
dgv128e55 CNV gain 17911159
dgv3178n100 CNV gain 25217958
dgv935e212 CNV loss 25503493
esv2676042 CNV deletion 23128226
esv2715976 CNV deletion 23290073
esv2751686 CNV gain 17911159
esv2758692 CNV gain+loss 17122850
esv2762433 CNV gain+loss 21179565
esv3554475 CNV deletion 23714750
esv3582707 CNV loss 25503493
esv6819 CNV gain 19470904
nsv1071390 CNV deletion 25765185
nsv1072740 CNV deletion 25765185
nsv1138547 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv2068 CNV insertion 18451855
nsv469537 CNV gain+loss 16826518
nsv469705 CNV loss 16826518
nsv471698 CNV gain+loss 15918152
nsv478992 CNV novel sequence insertion 20440878
nsv510714 CNV deletion 20534489
nsv575142 CNV loss 21841781

Variation tolerance for MAPT Gene

Residual Variation Intolerance Score: 76.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.06; 95.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAPT Gene

Human Gene Mutation Database (HGMD)
MAPT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAPT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAPT Gene

Disorders for MAPT Gene

MalaCards: The human disease database

(68) MalaCards diseases for MAPT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
frontotemporal dementia
  • ftd
supranuclear palsy, progressive, 1
  • psnp1
pick disease of brain
  • lobar atrophy of brain
parkinson-dementia syndrome
  • supranuclear palsy, progressive atypical
dementia
  • presenile dementia
- elite association - COSMIC cancer census association via MalaCards
Search MAPT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TAU_HUMAN
  • Note=In Alzheimer disease, the neuronal cytoskeleton in the brain is progressively disrupted and replaced by tangles of paired helical filaments (PHF) and straight filaments, mainly composed of hyperphosphorylated forms of TAU (PHF-TAU or AD P-TAU). O-GlcNAcylation is greatly reduced in Alzheimer disease brain cerebral cortex leading to an increase in TAU/MAPT phosphorylations. {ECO:0000269 PubMed:14517953, ECO:0000269 PubMed:26086902}.
  • Frontotemporal dementia (FTD) [MIM:600274]: A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. In some cases, parkinsonian symptoms are prominent. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, amygdala. In most cases, protein tau deposits are found in glial cells and/or neurons. {ECO:0000269 PubMed:10208578, ECO:0000269 PubMed:10214944, ECO:0000269 PubMed:10374757, ECO:0000269 PubMed:10489057, ECO:0000269 PubMed:10553987, ECO:0000269 PubMed:10802785, ECO:0000269 PubMed:11071507, ECO:0000269 PubMed:11117541, ECO:0000269 PubMed:11278002, ECO:0000269 PubMed:11585254, ECO:0000269 PubMed:11889249, ECO:0000269 PubMed:11906000, ECO:0000269 PubMed:11921059, ECO:0000269 PubMed:12473774, ECO:0000269 PubMed:12509859, ECO:0000269 PubMed:14517953, ECO:0000269 PubMed:15883319, ECO:0000269 PubMed:16240366, ECO:0000269 PubMed:26086902, ECO:0000269 PubMed:9629852, ECO:0000269 PubMed:9641683, ECO:0000269 PubMed:9736786, ECO:0000269 PubMed:9789048, ECO:0000269 PubMed:9973279}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pick disease of the brain (PIDB) [MIM:172700]: A rare form of dementia pathologically defined by severe atrophy, neuronal loss and gliosis. It is characterized by the occurrence of tau-positive inclusions, swollen neurons (Pick cells) and argentophilic neuronal inclusions known as Pick bodies that disproportionally affect the frontal and temporal cortical regions. Clinical features include aphasia, apraxia, confusion, anomia, memory loss and personality deterioration. {ECO:0000269 PubMed:10604746, ECO:0000269 PubMed:11089577, ECO:0000269 PubMed:11117542, ECO:0000269 PubMed:11601501, ECO:0000269 PubMed:11891833}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in MAPT are a cause of corticobasal degeneration (CBD). It is marked by extrapyramidal signs and apraxia and can be associated with memory loss. Neuropathologic features may overlap Alzheimer disease, progressive supranuclear palsy, and Parkinson disease.
  • Progressive supranuclear palsy 1 (PSNP1) [MIM:601104]: Characterized by akinetic-rigid syndrome, supranuclear gaze palsy, pyramidal tract dysfunction, pseudobulbar signs and cognitive capacities deterioration. Neurofibrillary tangles and gliosis but no amyloid plaques are found in diseased brains. Most cases appear to be sporadic, with a significant association with a common haplotype including the MAPT gene and the flanking regions. Familial cases show an autosomal dominant pattern of transmission with incomplete penetrance; genetic analysis of a few cases showed the occurrence of tau mutations, including a deletion of Asn-613. {ECO:0000269 PubMed:10534245, ECO:0000269 PubMed:11220749, ECO:0000269 PubMed:12325083, ECO:0000269 PubMed:14991828, ECO:0000269 PubMed:14991829, ECO:0000269 PubMed:16157753}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Parkinson-dementia syndrome (PARDE) [MIM:260540]: A syndrome characterized by parkinsonism, tremor, rigidity, dementia, ophthalmoparesis and pyramidal signs. Neurofibrillary degeneration occurs in the hippocampus, basal ganglia and brainstem nuclei. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MAPT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for MAPT Gene

  1. Glycogen synthase kinase-3beta and tau genes interact in Alzheimer's disease. (PMID: 18991351) Kwok JB … Schofield PR (Annals of neurology 2008) 3 22 44 58
  2. Association of the tau haplotype H2 with age at onset and functional alterations of glucose utilization in frontotemporal dementia. (PMID: 17898350) Laws SM … Riemenschneider M (The American journal of psychiatry 2007) 3 22 44 58
  3. The role of tau (MAPT) in frontotemporal dementia and related tauopathies. (PMID: 15365985) Rademakers R … van Broeckhoven C (Human mutation 2004) 3 4 22 58
  4. A polymorphism within intron 11 of the tau gene is not increased in frequency in patients with sporadic Alzheimer's disease, nor does it influence the extent of tau pathology in the brain. (PMID: 11988340) Green EK … Mann DM (Neuroscience letters 2002) 3 22 44 58
  5. Pick's disease associated with the novel Tau gene mutation K369I. (PMID: 11601501) Neumann M … Kretzschmar HA (Annals of neurology 2001) 3 4 22 58

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