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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TARDBP
TAR DNA binding protein
Chromosome 1 Β· 1p36.22
NCBI Gene: 23435Ensembl: ENSG00000120948.20HGNC: HGNC:11571UniProt: Q13148
1,097PubMed Papers
21Diseases
0Drugs
23Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of cell cycle3'-UTR-mediated mRNA stabilizationnuclear inner membrane organizationamyloid fibril formationamyotrophic lateral sclerosisfamilial amyotrophic lateral sclerosisfrontotemporal dementia with motor neuron diseasefrontotemporal dementia
✦AI Summary

TARDBP encodes TAR DNA-binding protein 43 kDa (TDP-43), a multifunctional RNA-binding protein primarily localized to the nucleus. TDP-43 regulates RNA biogenesis through its two RNA recognition motifs (RRM1 and RRM2), which preferentially bind GU-rich sequences in long introns and 3' untranslated regions (3'UTRs) 1. It controls splicing of diverse RNAs including neuronal survival factors and represses nonconserved cryptic exons, maintaining intron integrity 2. TDP-43 also regulates mRNA stability by recruiting deadenylase complexes and participates in stress granule formation during oxidative stress 3. Additionally, it maintains mitochondrial homeostasis and supports muscle regeneration 4. TDP-43 dysfunction is central to multiple neurodegenerative diseases. Cytoplasmic aggregation with nuclear clearance characterizes amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), and appears in up to 57% of Alzheimer's disease cases 5. TARDBP mutations are among the most common genetic causes of ALS 6. Nuclear-to-cytoplasmic mislocalization precedes aggregation and drives pathology through both loss of normal RNA regulatory function and gain-of-function toxicity, including altered splicing, increased DNA damage, and mitochondrial dysfunction 7. TDP-43 aggregation induced by oxidative stress sequesters microRNAs and mitochondrial proteins, creating a stress-aggregation cycle 8. Understanding TDP-43 mislocalization mechanisms offers therapeutic targets for these neurodegenerative conditions.

Sources cited
1
TDP-43 binds GU-repeats via RRM1 and RRM2 motifs in introns and 3'UTRs to regulate RNA biogenesis
PMID: 23519609
2
TDP-43 represses splicing of nonconserved cryptic exons; this function is compromised in ALS-FTD
PMID: 26250685
3
TDP-43 associates with stalled ribosomes in stress granules in response to oxidative stress
PMID: 19765185
4
TDP-43 maintains mitochondrial homeostasis by regulating mitochondrial transcript processing
PMID: 28794432
5
TDP-43 pathology occurs in up to 57% of Alzheimer's disease cases and is associated with increased cognitive impairment severity
PMID: 34930382
6
TARDBP is among the most common ALS genes; effective gene silencing therapies are emerging
PMID: 38967083
7
TDP-43 mislocalization from nucleus to cytoplasm drives ALS pathology through altered splicing and increased DNA damage
PMID: 32799899
8
TDP-43 aggregation sequesters microRNAs and mitochondrial proteins, creating oxidative stress and mitochondrial imbalance
PMID: 33398173
Disease Associationsβ“˜21
amyotrophic lateral sclerosisOpen Targets
0.82Strong
familial amyotrophic lateral sclerosisOpen Targets
0.75Strong
frontotemporal dementia with motor neuron diseaseOpen Targets
0.70Strong
frontotemporal dementiaOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
motor neuron diseaseOpen Targets
0.44Moderate
amyotrophic lateral sclerosis, dominantOpen Targets
0.41Moderate
genetic disorderOpen Targets
0.19Weak
immunodeficiency due to MASP-2 deficiencyOpen Targets
0.19Weak
Parkinson diseaseOpen Targets
0.13Weak
Pick diseaseOpen Targets
0.13Weak
Alzheimer diseaseOpen Targets
0.12Weak
parkinsonian disorderOpen Targets
0.12Weak
Huntington diseaseOpen Targets
0.11Weak
proteostasis deficienciesOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
inclusion body myositisOpen Targets
0.10Suggestive
infectionOpen Targets
0.09Suggestive
subarachnoid hemorrhageOpen Targets
0.09Suggestive
gliomaOpen Targets
0.09Suggestive
Amyotrophic lateral sclerosis 10UniProt
Pathogenic Variants23
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)Pathogenic
Amyotrophic lateral sclerosis type 10|not provided|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|TARDBP-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 352
NM_007375.4(TARDBP):c.931A>G (p.Met311Val)Likely pathogenic
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|not provided|Amyotrophic lateral sclerosis type 10|TARDBP-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 311
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)Pathogenic
Amyotrophic lateral sclerosis type 10|not provided|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|See cases|TARDBP-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 383
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)Pathogenic
Amyotrophic lateral sclerosis type 10|not provided|Motor neuron disease|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|TARDBP-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 287
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)Pathogenic
Amyotrophic lateral sclerosis type 10|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 337
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)Pathogenic
Amyotrophic lateral sclerosis type 10|not provided|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|TARDBP-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 298
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)Pathogenic
Amyotrophic lateral sclerosis type 10|FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED|not provided|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|TARDBP-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 382
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr)Pathogenic
Amyotrophic lateral sclerosis type 10|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 315
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)Pathogenic
Amyotrophic lateral sclerosis type 10|not provided|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10
β˜…β˜…β˜†β˜†2024β†’ Residue 348
NM_007375.4(TARDBP):c.1123A>G (p.Ser375Gly)Pathogenic
Amyotrophic lateral sclerosis type 10;FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
β˜…β˜†β˜†β˜†2025β†’ Residue 375
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser)Pathogenic
Amyotrophic lateral sclerosis type 10|FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10
β˜…β˜†β˜†β˜†2025β†’ Residue 295
NM_007375.4(TARDBP):c.962C>G (p.Ala321Gly)Likely pathogenic
Amyotrophic lateral sclerosis type 10;FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
β˜…β˜†β˜†β˜†2025β†’ Residue 321
NM_007375.4(TARDBP):c.1132A>G (p.Asn378Asp)Likely pathogenic
Amyotrophic lateral sclerosis type 10;FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
β˜…β˜†β˜†β˜†2025β†’ Residue 378
NM_007375.4(TARDBP):c.1035C>A (p.Asn345Lys)Pathogenic
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED;Amyotrophic lateral sclerosis type 10
β˜…β˜†β˜†β˜†2022β†’ Residue 345
NM_007375.4(TARDBP):c.962C>A (p.Ala321Asp)Likely pathogenic
Amyotrophic lateral sclerosis type 10;FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
β˜…β˜†β˜†β˜†2022β†’ Residue 321
NM_007375.4(TARDBP):c.1060C>G (p.Gln354Glu)Likely pathogenic
Amyotrophic lateral sclerosis type 10
β˜…β˜†β˜†β˜†2020β†’ Residue 354
NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro)Likely pathogenic
Frontotemporal dementia
β˜…β˜†β˜†β˜†2019β†’ Residue 377
NM_007375.4(TARDBP):c.1043G>T (p.Gly348Val)Pathogenic
Motor neuron disease
β˜…β˜†β˜†β˜†2016β†’ Residue 348
NM_007375.4(TARDBP):c.1133A>G (p.Asn378Ser)Likely pathogenic
Amyotrophic lateral sclerosis type 10
β˜…β˜†β˜†β˜†β†’ Residue 378
NM_007375.4(TARDBP):c.787A>G (p.Lys263Glu)Pathogenic
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
β˜†β˜†β˜†β˜†2009β†’ Residue 263
View on ClinVar β†—
Related Genes
SNCAProtein interaction99%DROSHAProtein interaction99%PRKNProtein interaction98%G3BP1Protein interaction98%HDAC6Protein interaction98%DICER1Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Brain
94%
Ovary
89%
Bone Marrow
79%
Lung
75%
Heart
68%
Gene Interaction Network
Click a node to explore
TARDBPSNCADROSHAPRKNG3BP1HDAC6DICER1
PROTEIN STRUCTURE
Preparing viewer…
PDB6CF4 Β· 0.75 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.23Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.10 [0.05–0.23]
RankingsWhere TARDBP stands among ~20K protein-coding genes
  • #140of 20,598
    Most Researched1,097 Β· top 1%
  • #2,031of 5,498
    Most Pathogenic Variants23
  • #631of 17,882
    Most Constrained (LOEUF)0.23 Β· top 5%
Genes detectedTARDBP
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
TDP-43 Pathology in Alzheimer's Disease.
PMID: 34930382
Mol Neurodegener Β· 2021
1.00
2
The genetics of amyotrophic lateral sclerosis.
PMID: 38967083
Curr Opin Neurol Β· 2024
0.90
3
Intra-condensate demixing of TDP-43 inside stress granules generates pathological aggregates.
PMID: 40412392
Cell Β· 2025
0.80
4
FUS and TDP-43 Phases in Health and Disease.
PMID: 33446423
Trends Biochem Sci Β· 2021
0.80
5
Frontotemporal dementia.
PMID: 29478591
Handb Clin Neurol Β· 2018
0.78