TARDBP

E133685

TARDBP is a gene encoding the TDP-43 protein, a DNA/RNA-binding protein whose abnormal aggregation is a key pathological feature in amyotrophic lateral sclerosis and related neurodegenerative diseases.

All labels observed (4)

Label Occurrences
TAR DNA-binding protein 43 1
TARDBP canonical 1
TDP-43 1

How this entity was disambiguated

Statements (51)

Predicate Object
instanceOf human gene
protein-coding gene
associatedWithDisease ALS
ALS-FTD spectrum disorders
amyotrophic lateral sclerosis
frontotemporal dementia
frontotemporal lobar degeneration
associatedWithPathology TDP-43 proteinopathy
cytoplasmic TDP-43 inclusions
neuronal TDP-43 aggregates
encodes TARDBP self-linksurface differs
surface form: TAR DNA-binding protein 43

TARDBP self-linksurface differs
surface form: TDP-43

TARDBP self-linksurface differs
surface form: transactive response DNA-binding protein 43 kDa
expressedIn central nervous system
motor neurons
ubiquitous tissues
hasBiologicalProcess RNA metabolism
alternative splicing
axon maintenance
neuronal survival
pre-mRNA splicing
stress granule dynamics
transcriptional repression
hasMolecularFunction DNA binding
RNA binding
RNA splicing regulation
mRNA stability regulation
microRNA biogenesis regulation
transcription regulation
hasProteinFeature RNA recognition motif
RRM1 domain
RRM2 domain
glycine-rich C-terminal domain
nuclear export signal
nuclear localization signal
prion-like domain
involvedIn RNA transport
formation of ribonucleoprotein granules
stress response
locatedOnChromosome chromosome 1
locatedOnChromosomeArm 1p
mutationAssociatedWith familial ALS
sporadic ALS
mutationType frameshift mutation
missense mutation
nonsense mutation
orthologInSpecies mouse Tardbp
zebrafish tardbp
subcellularLocation cytoplasm
nucleus
stress granules

How these facts were elicited

Referenced by (4)

Full triples — surface form annotated when it differs from this entity's canonical label.

ALS associatedWithGene TARDBP
TARDBP encodes TARDBP self-linksurface differs
this entity surface form: TDP-43
TARDBP encodes TARDBP self-linksurface differs
this entity surface form: TAR DNA-binding protein 43
TARDBP encodes TARDBP self-linksurface differs
this entity surface form: transactive response DNA-binding protein 43 kDa