Gene
TARDBP
TAR DNA binding protein
- HGNC 11571(opens in a new tab)
- Ensembl gene ENSG00000120948(opens in a new tab)
- NCBI Gene 23435(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.22
- Coordinates
- Chromosome 1: 11,012,654–11,025,492 (GRCh38)
- Exons
- 6 exons across 12.8 kb
- Protein
- 414 amino acids
- Also known as
- TDP-43, ALS10
- MANE Select transcript
- ENST00000240185.8NM_007375.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated report relevant to this gene
Amyotrophic Lateral Sclerosis (ALS)
- Amyotrophic Lateral Sclerosis
A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members
How TARDBP is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.2 kb of the gene's 12.8 kb; 1,245 of those bases code for the protein.
How a genome test reads TARDBP
20
positions in TARDBP where ClinVar classes a change as pathogenic or likely pathogenic
20 of them (100%) fall in regions short reads find hard.
- Low mappability (13 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (20 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 12.8 kb of TARDBP, introns included, not only the 4.2 kb of exons.
Traits linked to TARDBP
The Human Phenotype Ontology lists these as features of the rare conditions TARDBP can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Lou Gehrig's disease
- Abnormal lower motor neuron morphology
- Abnormal shape of upper motor neuron
- Frontotemporal dementia
- Motor neuron atrophy
- Ongoing loss of nerve cells
- Abnormal gait
- Abnormal speech pattern
Show 51 more traits
- Abnormality of extrapyramidal motor function
- Anxiety
- Apraxia
- Arm dystonia
- Babinski sign
- Behavioral abnormality
- Brisk reflexes
- Bulbar signs
- Can't control feelings
- CNS hypomyelination
- Cognitive impairment
- Degeneration of the lateral corticospinal tracts
- Delayed ability to walk
- Depression
- Difficulty articulating speech
- Difficulty making arithmetical calculations
- Dystonia
- Gliosis
- Hallucinations
- Hoffmann sign
- Inability to walk
- Increased reflexes
- Lack of feeling, emotion, interest
- Muscle twitch
- Neuronal loss in the cerebral cortex
- Paralysis
- Parkinsonism
- Partial paralysis of legs
- Progressive cerebellar ataxia
- Tetraparesis
- Weakness due to upper motor neuron dysfunction
- Abnormality of the cerebellum
- Ataxia
- Axial dystonia
- Chorea
- Clonus
- Decreased reflex response
- Difficulty sleeping
- Disinhibition
- Generalized brain degeneration
- Global developmental delay
- Head titubation
- High stepping
- Inability to speak
- Jaw hyperreflexia
- Language impairment
- Loss of articulate speech
- Oromandibular dystonia
- Perseverative thought
- Toe walking
- Repetitive movements
Abnormality of the musculoskeletal system
- Distal muscle wasting
- Generalized muscle weakness
- Lower limb spasticity
- Muscle degeneration
- Muscle weakness
- Uncontrollable movement in upper arms
- Diffuse skeletal muscle wasting
- Fatigable weakness of bulbar muscles
Show 18 more traits
- Fatigable weakness of respiratory muscles
- Fatigable weakness of swallowing muscles
- Involuntary muscle stiffness, contraction, or spasm
- Lower-limb joint contracture
- Muscle fiber degeneration
- Muscle spasm
- Progressive distal muscular atrophy
- Proximal neurogenic muscle weakness
- Spastic diplegia
- Spasticity and rigidity of muscles
- Upper-limb joint contracture
- Weakness of outermost muscles
- Bulbar palsy
- Neck flexion weakness
- Opisthotonus
- Scoliosis
- Spastic paraparesis
- Decreased lung function due to weak breathing muscles
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TARDBP gene: TAR DNA binding protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/tardbp
Dante Labs. TARDBP gene: TAR DNA binding protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tardbp
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