Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:TDP-43
gptkb:TDP43 gptkb:TARDBP |
| gptkbp:associatedWith |
amyotrophic lateral sclerosis
frontotemporal dementia |
| gptkbp:discoveredBy |
K. A. Ou et al.
|
| gptkbp:discoveredIn |
1995
|
| gptkbp:encodes |
TDP-43 protein
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000120948
23435 |
| gptkbp:expressedIn |
gptkb:spinal_cord
brain |
| gptkbp:function |
RNA binding
regulation of transcription splicing regulation |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:11574
|
| https://www.w3.org/2000/01/rdf-schema#label |
TARDBP gene
|
| gptkbp:length |
6 exons
|
| gptkbp:locatedOnChromosome |
gptkb:1p36.22
chromosome 1 |
| gptkbp:mutationAssociatedWith |
neurodegeneration
protein aggregation |
| gptkbp:OMIM |
605078
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Tardbp
|
| gptkbp:product |
gptkb:TAR_DNA-binding_protein_43
|
| gptkbp:referenceGenome |
gptkb:NM_007375
|
| gptkbp:UniProtID |
gptkb:Q13148
|
| gptkbp:bfsParent |
gptkb:TAR_DNA-binding_protein_43
gptkb:TDP-43 gptkb:TDP43 |
| gptkbp:bfsLayer |
6
|