Details for Gene TARDBP

GENE NAME TARDBP
CHROMOSOME 1
ENSEMBL ID None
ENTREZ ID ENSG00000120948
UNIPROT ACCESSION NUMBER Q13148
GO MOLECULAR FUNCTION ['RNA polymerase II cis-regulatory region sequence-specific DNA binding', "mRNA 3'-UTR binding", 'pre-mRNA intronic binding', 'double-stranded DNA binding', 'protein binding', 'RNA binding', 'identical protein binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa03013; hsa03015; hsa05014; hsa05022; hsa03013; hsa03015; hsa05014; hsa05022; hsa03013; hsa03015; hsa05014; hsa05022
16 combinations linked to TARDBP OLI1310; OLI279; OLI659; OLI1309; OLI1312; OLI1620; OLI1638; OLI1588; OLI1459; OLI1702; OLI437; OLI770; OLI765; OLI1636; OLI404; OLI1458
12 variants linked to TARDBP TARDBP:c.859G>A, p.Gly287Ser; TARDBP:c.1169A>G, p.Asn390Ser; TARDBP:c.943G>A, p.Ala315Thr; TARDBP:p.Gly294Val; TARDBP:p.Asn352Ser; TARDBP:p.Ala321Val; TARDBP:p.Gly294Ala; TARDBP:c.881G>T, p.Gly294Val; TARDBP:c.859G>A, p.Gly287Ser; TARDBP:c.881G>T, p.Gly294Val; TARDBP:c.1243_*3delinsATCGATG, ; TARDBP:p.Gly298Val
4 diseases linked to TARDBP NON RARE IN EUROPE: Alzheimer disease; Frontotemporal dementia; Amyotrophic lateral sclerosis; Facial onset sensory and motor neuronopathy
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