TARDBP
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TARDBP (HGNC:11571) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
TAR DNA binding protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
TDP-43, ALS10
%HI
12.94(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.23(Read more about gnomAD LOEUF score)
Cytoband
1p36.22
Genomic Coordinates
GRCh37/hg19: chr1:11072711-11085549 NCBI Ensembl UCSC
GRCh38/hg38: chr1:11012654-11030528 NCBI Ensembl UCSC
MANE Select Transcript
NM_007375.4 ENST00000240185.8 (Read more about MANE Select)
Function
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 relev... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30639
ClinGen Curation ID:
CCID:007970
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
09/25/2018

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 19959528
    Kabashi et al. (2010): TARDBP mutations (A315T, G348C and A382T) were tested in cell lines, primary cultured motor neurons and living zebrafish embryos. Results showed that TARDBP mutations cause motor neuron defects and toxicity, suggesting that both a toxic gain of function as well as a novel loss of function may be involved in the molecular mechanism by which mutant TDP-43 contributes to disease pathogenesis.
  • PUBMED: 18931000
    Daoud et al. (2009): A truncating mutation in the last exon of TARDP was detected in a 63 year old male with sporadic ALS. The same mutation was reported in a young male with missense FUS mutation (PMID:26452761). In that case, the patient had early onset and death. The authors concluded that the more aggressive disease phenotype was due to the combination of mutations.
HI Evidence Comments:
TARDPB mutations occur in about 3% of patients with autosomal dominant familial ALS and in 1.5% of patients with sporadic disease. Almost all disease-causing mutations to date have been missense and in-frame indels. The exception is a recurrent, 3' truncating mutation p.Y374*. The combined data suggest that abnormal TARDPB protein rather than haploinsufficiency, is the primary cause of disease.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)