TARDBP Chromosome 1
TAR DNA binding protein
Upload your DNA to see your personal genotypes for variants in TARDBP.
What This Gene Does
HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
RNA binding motif containing
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000120948
Associated Conditions (10)
Motor neuron disease
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
TARDBP-RELATED
Amyotrophic lateral sclerosis type 10
Inborn genetic diseases
TARDBP-related disorder
Parkinsonian disorder
Frontotemporal dementia
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS
See cases
Key Variants
RS147795017
Conflicting classifications of pathogenicity
Motor neuron disease, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Health Risk
RS149517613
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Health Risk
RS1553159719
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Health Risk
RS1643653768
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Health Risk
RS201693535
Conflicting classifications of pathogenicity
Inborn genetic diseases, Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
Health Risk
RS532319219
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Health Risk
RS547979470
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Health Risk
RS565091566
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Health Risk
RS797044594
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Health Risk
RS80356715
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Health Risk
RS80356718
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Health Risk
RS80356723
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147795017 | Health Risk | Conflicting classifications of pathogenicity | Motor neuron disease, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS149517613 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS1553159719 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS1643653768 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS201693535 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS532319219 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS547979470 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS565091566 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS797044594 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS80356715 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS80356718 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS80356723 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS80356741 | Health Risk | Conflicting classifications of pathogenicity | TARDBP-related disorder, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS80356742 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS1304706298 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS1553159739 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10 |
| RS1557660662 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS1570725499 | Health Risk | Likely pathogenic | Frontotemporal dementia, Frontotemporal dementia |
| RS1643659556 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10 |
| RS80356725 | Health Risk | Likely pathogenic | FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED, Amyotrophic lateral sclerosis type 10 |
| RS1131690782 | Health Risk | Pathogenic | Motor neuron disease, Motor neuron disease |
| RS267607102 | Health Risk | Pathogenic | FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED, FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS |
| RS766196255 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS80356717 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10 |
| RS80356726 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS80356727 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10 |
| RS80356731 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10 |
| RS80356732 | Health Risk | Pathogenic | FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED, Amyotrophic lateral sclerosis type 10 |
| RS367543041 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS4884357 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS80356719 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 10, Motor neuron disease, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS |
| RS80356730 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS80356733 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS80356734 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |
| RS80356740 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED |