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 2
TDP-43 2
TARDBP canonical 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 TAR DNA-binding protein 43 ⓘ
linked to: TARDBP

TDP-43 ⓘ
linked to: TARDBP

transactive response DNA-binding protein 43 kDa ⓘ
linked to: TARDBP
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 (6)

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

ALS → associatedWithGene → TARDBP ⓘ
TARDBP → encodes → TDP-43 ⓘ
linked to: TARDBP
TARDBP → encodes → TAR DNA-binding protein 43 ⓘ
linked to: TARDBP
TARDBP → encodes → transactive response DNA-binding protein 43 kDa ⓘ
linked to: TARDBP
TDP-43 proteinopathy → hasAssociatedProtein → TAR DNA-binding protein 43 ⓘ
linked to: TARDBP
TDP-43 proteinopathy → abbreviationOfAssociatedProtein → TDP-43 ⓘ
linked to: TARDBP