MAPT (GeneID: 4137) | Homo sapiens
Description: microtubule associated protein tau [Source:HGNC Symbol;Acc:HGNC:6893]
Synonyms: PND, MSTD, DDPAC, TAU, MTBT2, MAPTL, PPP1R103, MTBT1, FTDP-17
Other ID(s): ENSG00000277956, ENSG00000276155, HGNC:6893, ENSG00000186868
Protein Accession Numbers: ENST00000550769, NP_001116538, NP_005901, ENST00000334239, ENST00000446361, ENST00000549053, ENST00000571987, NP_001364195, ENST00000415613, ENST00000552974, NP_001190180, NP_058519, ENST00000344290, ENST00000535772, ENST00000550493, ENST00000576518, NP_001364197, ENST00000262410, ENST00000431008, ENST00000547239, ENST00000571311, NP_001364194, ENST00000351559, ENST00000552530, NP_001116539, NP_058518, ENST00000340799, ENST00000447599, ENST00000549598, ENST00000574436, NP_001364196, ENST00000420682, ENST00000546644, ENST00000553101, NP_001190181, NP_058525, ENST00000347967
Statistics: ClinVar(112) gnomAD(335) COSMIC(902) PTM(67)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000262410 ENST00000334239 ENST00000340799 You are here now! ENST00000344290 ENST00000347967 ENST00000351559 ENST00000415613 ENST00000420682 You are here now! ENST00000431008 ENST00000446361 ENST00000447599 ENST00000535772 ENST00000546644 You are here now! ENST00000547239 ENST00000549053 ENST00000549598 ENST00000550493 ENST00000550769 ENST00000552530 ENST00000552974 ENST00000553101 ENST00000571311 ENST00000571987 ENST00000574436 ENST00000576518


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00418 Tubulin-binding Tau and MAP protein, tubulin-binding repeat 592-622 Homo sapiens
PF00418 Tubulin-binding Tau and MAP protein, tubulin-binding repeat 654-685 Homo sapiens
PF00418 Tubulin-binding Tau and MAP protein, tubulin-binding repeat 623-653 Homo sapiens
PF00418 Tubulin-binding Tau and MAP protein, tubulin-binding repeat 560-591 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.492 0.724
Bipolar Disorder Mental Disorders ; 0.492 0.724
Cognition Disorders Mental Disorders ; 0.492 0.724
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.492 0.724
Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.492 0.724
Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.492 0.724
Parkinson Disease Nervous System Diseases ; 0.492 0.724
Respiratory Insufficiency Respiratory Tract Diseases ; 0.492 0.724
Splenomegaly Pathological Conditions, Signs and Symptoms ; 0.492 0.724
Progressive supranuclear palsy Nervous System Diseases ; Eye Diseases ; Pathological Conditions, Signs and Symptoms ; 0.492 0.724
Weight Gain Pathological Conditions, Signs and Symptoms ; 0.492 0.724
Memory impairment Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.492 0.724
Respiratory Depression Respiratory Tract Diseases ; 0.492 0.724
Pick Disease of the Brain Nervous System Diseases ; Mental Disorders ; 0.492 0.724
Parkinsonian Disorders Nervous System Diseases ; 0.492 0.724
Ramsay Hunt Paralysis Syndrome Nervous System Diseases ; 0.492 0.724
Degenerative Diseases, Central Nervous System Nervous System Diseases ; 0.492 0.724
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.492 0.724
Frontotemporal dementia Nervous System Diseases ; Nutritional and Metabolic Diseases ; Mental Disorders ; 0.492 0.724
Semantic Dementia Nervous System Diseases ; Nutritional and Metabolic Diseases ; Mental Disorders ; 0.492 0.724
Senile Paranoid Dementia Nervous System Diseases ; Mental Disorders ; 0.492 0.724
Akathisia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.492 0.724
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.492 0.724
Dementia Nervous System Diseases ; Mental Disorders ; 0.492 0.724
Pallidopontonigral degeneration Nervous System Diseases ; Nutritional and Metabolic Diseases ; Mental Disorders ; 0.492 0.724
Neurodegenerative Disorders Nervous System Diseases ; 0.492 0.724
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.492 0.724
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.492 0.724
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.492 0.724
Familial Dementia Nervous System Diseases ; Mental Disorders ; 0.492 0.724
Adult Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.492 0.724
Learning Disturbance Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.492 0.724
Learning Disabilities Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.492 0.724
Age-Related Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.492 0.724
Memory Disorder, Semantic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.492 0.724
Memory Disorder, Spatial Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.492 0.724
Memory Loss Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.492 0.724
Primary Progressive Nonfluent Aphasia Nervous System Diseases ; Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.492 0.724
Degenerative Diseases, Spinal Cord Nervous System Diseases ; 0.492 0.724
Autosomal Dominant Juvenile Parkinson Disease Nervous System Diseases ; 0.492 0.724
Autosomal Dominant Parkinsonism Nervous System Diseases ; 0.492 0.724
Autosomal Recessive Parkinsonism Nervous System Diseases ; 0.492 0.724
Parkinsonism, Experimental Nervous System Diseases ; 0.492 0.724
Familial Juvenile Parkinsonism Nervous System Diseases ; 0.492 0.724
Parkinsonism, Juvenile Nervous System Diseases ; 0.492 0.724
Tauopathies Nervous System Diseases ; 0.492 0.724
Respiratory Failure Respiratory Tract Diseases ; 0.492 0.724
Weight decreased Pathological Conditions, Signs and Symptoms ; 0.492 0.724
Developmental Academic Disorder Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.492 0.724
Pick Complex Nervous System Diseases ; Nutritional and Metabolic Diseases ; Mental Disorders ; 0.492 0.724
Supranuclear Palsy, Progressive, 1, Atypical Nervous System Diseases ; Eye Diseases ; Pathological Conditions, Signs and Symptoms ; 0.492 0.724
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE Nervous System Diseases ; 0.492 0.724
PARKINSON DISEASE, LATE-ONSET N/A 0.492 0.724
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.492 0.724
Psychomotor Agitation Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.492 0.724
Behavioral variant of frontotemporal dementia N/A 0.492 0.724
NO RESULT FOUND
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