Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

TARDBP

contributors: shn/mct - updated : 12-01-2022

HGNC name	TAR DNA binding protein
HGNC id	11571

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ALS10

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   component of cytoplasmic inclusions in frontotemporal degeneration and amyotrophic lateral sclerosis (aggregation of TARDBP C-terminal fragments, found in cytoplasmic inclusions is regulated by phosphorylation events and both the autophagy and proteasome-mediated degradation pathways) constitutional     --over   enhancing exon 7 inclusion during the survival of motor neuron pre-mRNA splicing constitutional       loss of function may induce neuronal degeneration probably through dysregulation of Rho family GTPases constitutional       gain of function in motor neurons of sporadic ALS patients constitutional       gain of function in some FTLD-U patients constitutional     --other   inclusions have been found in Alzheimer's disease (AD) cases, most often in a limbic distribution, with or without hippocampal sclerosis

Susceptibility

to sporadic amyotrophic lateral sclerosis to Ewing sarcoma

Variant & Polymorphism SNP , other	P363A and A382P missense mutations may predispose to ALS in approximately 2 p100 of the individuals
	rs9430161 associated with susceptibility to Ewing sarcoma

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular laterale amyotrophy sclerosis   TARDBP–ATXN2 interaction may be a promising target for therapeutic intervention in ALS and other TARDBP proteinopathies neuromuscular neuropathy   TARDBP–ATXN2 interaction may be a promising target for therapeutic intervention in ALS and other TARDBP proteinopathies neurology neurodegenerative   reduced insulin/IGF-1 signaling could ameliorate TARDBP toxicity by decreasing its aggregation in neurons neurology neurodegenerative   targeting of TARDBP mitochondrial localization is a promising therapeutic approach for neurodegeneration

ANIMAL & CELL MODELS

	postnatal deletion of Tardbp in mice caused dramatic loss of body fat followed by rapid death
	aberrant Tdp-43- and FUS/TLS-positive nuclear inclusions, abnormal accumulation of mitochondria in motor neurons, immature neuromuscular junctions, and atrophy of skeletal muscle in Tdp-43 mice
	In SH-SY5Y human neuroblastoma cells, knockdown of TDP-43 caused altered splicing of about 200 transcripts (
	autophagy activation is an effective route for therapy of Tdp-43 Tg mice with FTLD-U phenotypes