Gene
ALS2
alsin Rho guanine nucleotide exchange factor ALS2
- HGNC 443(opens in a new tab)
- Ensembl gene ENSG00000003393(opens in a new tab)
- NCBI Gene 57679(opens in a new tab)
Summary
- Cytogenetic location
- 2q33.1
- Coordinates
- Chromosome 2: 201,700,267–201,780,933 (GRCh38)
- Exons
- 34 exons across 80.7 kb
- Protein
- 1,657 amino acids
- Previous symbols
- ALS2CR6
- MANE Select transcript
- ENST00000264276.11NM_020919.4
- 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.
- 1 GenCC submitter rates 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 ALS2 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 6.7 kb of the gene's 80.7 kb; 4,974 of those bases code for the protein.
How a genome test reads ALS2
94
positions in ALS2 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 80.7 kb of ALS2, introns included, not only the 6.7 kb of exons.
Traits linked to ALS2
The Human Phenotype Ontology lists these as features of the rare conditions ALS2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Babinski sign
- Increased reflexes
- Loss of articulate speech
- Abnormal pyramidal sign
- Abnormal shape of upper motor neuron
- Abnormality of balance
- Difficulty articulating speech
- Lou Gehrig's disease
Show 32 more traits
- Paralysis of all four limbs
- Pseudobulbar affect
- Abnormal gait
- Abnormal speech pattern
- Arm dystonia
- Ataxia
- Brisk reflexes
- Bulbar signs
- Clonus
- CNS hypomyelination
- Decreased compound muscle action potential amplitude
- Delayed ability to walk
- Dystonia
- Generalized dystonia
- Global developmental delay
- Head titubation
- Inability to walk
- Loss of ability to walk
- Loss of speech
- Toe walking
- Abnormality of the cerebellum
- Axial dystonia
- Behavioral abnormality
- Chorea
- Cognitive impairment
- Damage to nerves that sense feeling
- Oromandibular dystonia
- Parkinsonism
- Abnormal corticospinal tract morphology
- Abnormal lower motor neuron morphology
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Motor delay
Abnormality of the musculoskeletal system
- Appendicular spasticity
- Involuntary muscle stiffness, contraction, or spasm
- Muscle weakness
- Spastic paraplegia
- Spastic tetraparesis
- Spastic tetraplegia
- Distal muscle wasting
- Lower limb spasticity
Show 18 more traits
- Muscle degeneration
- Spastic walk
- Uncontrollable movement in upper arms
- Distal lower limb amyotrophy
- Limb contractures
- Lower-limb joint contracture
- Muscle fiber degeneration
- Opisthotonus
- Proximal neurogenic muscle weakness
- Scoliosis
- Spastic diplegia
- Spastic dysarthria
- Spasticity and rigidity of muscles
- Upper-limb joint contracture
- Weakness of outermost muscles
- Neck flexion weakness
- EMG: chronic denervation signs
- Spasticity of pharyngeal 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.). ALS2 gene: alsin Rho guanine nucleotide exchange factor ALS2. Retrieved 16 October 2026, from https://dantelabs.com/genes/als2
Dante Labs. ALS2 gene: alsin Rho guanine nucleotide exchange factor ALS2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/als2
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