AlphaFold predicted structure
TARDBP · Q13148
Mean pLDDT
65.2/ 100
Low
414 residues
Confidence breakdown
- Very high(≥ 90)1%
- Confident(70–90)51%
- Low(50–70)10%
- Very low(< 50)38%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
TARDBP
Chr 1p36.22TAR DNA binding protein
- Aliases:
- TDP-43, ALS10
- MANE:
- ENST00000240185.8
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAmyotrophic lateral sclerosis/motor neuron disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset dementia (encompassing fronto-temporal dementia and prion disease)
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
amyotrophic lateral sclerosis
0.82frontotemporal dementia with motor neuron disease
0.71familial amyotrophic lateral sclerosis
0.48frontotemporal dementia
0.45neurodegenerative disease
0.45motor neuron disorder
0.45amyotrophic lateral sclerosis, dominant
0.37hereditary disease
0.19immunodeficiency due to MASP-2 deficiency
0.19Parkinson disease
0.15
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
TAR DNA-binding protein 43
RNA-binding protein that is involved in various steps of RNA biogenesis and processing (PubMed:23519609). Preferentially binds, via its two RNA recognition motifs RRM1 and RRM2, to GU-repeats on RNA molecules predominantly localized within long introns and in the 3'UTR of mRNAs (PubMed:23519609, PubMed:24240615, PubMed:24464995). In turn, regulates the splicing of many non-coding and protein-coding RNAs including proteins involved in neuronal survival, as well as mRNAs that encode proteins relevant for neurodegenerative diseases (PubMed:21358640, PubMed:29438978). Plays a role in maintaining mitochondrial homeostasis by regulating the processing of mitochondrial transcripts (PubMed:28794432). Also regulates mRNA stability by recruiting CNOT7/CAF1 deadenylase on mRNA 3'UTR leading to poly(A) tail deadenylation and thus shortening (PubMed:30520513). In response to oxidative insult, associates with stalled ribosomes localized to stress granules (SGs) and contributes to cell survival (PubMed:19765185, PubMed:23398327). Also participates in the normal skeletal muscle formation and regeneration, forming cytoplasmic myo-granules and binding mRNAs that encode sarcomeric proteins (PubMed:30464263). Plays a role in the maintenance of the circadian clock periodicity via stabilization of the CRY1 and CRY2 proteins in a FBXL3-dependent manner (PubMed:27123980). Negatively regulates the expression of CDK6 (PubMed:19760257). Regulates the expression of HDAC6, ATG7 and VCP in a PPIA/CYPA-dependent manner (PubMed:25678563)
Diseases associated with TARDBP
Curated MONDO disease pages that list TARDBP among their top associated genes.