Gene
DCTN1
dynactin subunit 1
- HGNC 2711(opens in a new tab)
- Ensembl gene ENSG00000204843(opens in a new tab)
- NCBI Gene 1639(opens in a new tab)
Summary
- Cytogenetic location
- 2p13.1
- Coordinates
- Chromosome 2: 74,361,155–74,380,311 (GRCh38)
- Exons
- 32 exons across 19.2 kb
- Protein
- 1,278 amino acids
- MANE Select transcript
- ENST00000628224.3NM_004082.5
- 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 reports 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 moderate
- 2 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
Charcot-Marie-Tooth Disease
- Distal Hereditary Motor Neuropathy
Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.
- 3 GenCC submitters rate it definitive or strong
Spinal Muscular Atrophy
A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care
How DCTN1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 4.5 kb of the gene's 19.2 kb; 3,837 of those bases code for the protein.
How a genome test reads DCTN1
11
positions in DCTN1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 19.2 kb of DCTN1, introns included, not only the 4.5 kb of exons.
Traits linked to DCTN1
The Human Phenotype Ontology lists these as features of the rare conditions DCTN1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Akinesia
- Lou Gehrig's disease
- Parkinsonism
- Primitive reflex
- Abnormality of extrapyramidal motor function
- Depression
- Difficulty sleeping
- Lack of feeling, emotion, interest
Show 32 more traits
- Motor neuron atrophy
- Ongoing loss of nerve cells
- Tremor
- Anxiety
- Babinski sign
- Behavioral abnormality
- Can't control feelings
- Cognitive impairment
- Difficulty articulating speech
- Disinhibition
- Hoffmann sign
- Hyperorality
- Increased reflexes
- Muscle twitch
- Paralysis
- Dementia
- Dystonia
- Frontotemporal dementia
- High stepping
- Jaw hyperreflexia
- Language impairment
- Personality changes
- Suicidal ideation
- Abnormal lower motor neuron morphology
- Degeneration of anterior horn cells
- Degeneration of the lateral corticospinal tracts
- Difficulty staying or falling asleep
- Inability to move vocal cords
- Inappropriate behavior
- Pauses in breathing while sleeping
- Short stepped shuffling walk
- Slow movements
Abnormality of the respiratory system
- Central hypoventilation
- Abnormality on pulmonary function testing
- Breathing cessation
- Breathing difficulty
- Respiratory failure
- Slow breathing
- Orthopnea
- Laryngospasm
Show 1 more trait
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.). DCTN1 gene: dynactin subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/dctn1
Dante Labs. DCTN1 gene: dynactin subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dctn1
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