Gene
VAPB
VAMP associated protein B and C
- HGNC 12649↗(opens in a new tab)
- Ensembl gene ENSG00000124164↗(opens in a new tab)
- NCBI Gene 9217↗(opens in a new tab)
Summary
- Cytogenetic location
- 20q13.32
- Coordinates
- Chromosome 20: 58,389,229–58,451,101 (GRCh38)
- Exons
- 6 exons across 61.9 kb
- Protein
- 243 amino acids
- Also known as
- VAP-B, VAP-C, ALS8
- MANE Select transcript
- ENST00000475243.6NM_004738.5
- 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 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
- 3 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 VAPB 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 7.8 kb of the gene's 61.9 kb; 732 of those bases code for the protein.
How a genome test reads VAPB
1
position in VAPB 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 61.9 kb of VAPB, introns included, not only the 7.8 kb of exons.
Genes linked to the same conditions
- ALS2alsin Rho guanine nucleotide exchange factor ALS2Shares 1 condition
- ANGangiogeninShares 1 condition
- ANXA11annexin A11Shares 1 condition
- C9orf72C9orf72-SMCR8 complex subunitShares 1 condition
- CCNFcyclin FShares 1 condition
- CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10Shares 1 condition
- CHMP2Bcharged multivesicular body protein 2BShares 1 condition
- CYLDCYLD lysine 63 deubiquitinaseShares 1 condition
- DCTN1dynactin subunit 1Shares 1 condition
- ERBB4erb-b2 receptor tyrosine kinase 4Shares 1 condition
- FIG4FIG4 phosphoinositide 5-phosphataseShares 1 condition
- FUSFUS RNA binding proteinShares 1 condition
Traits linked to VAPB
The Human Phenotype Ontology lists these as features of the rare conditions VAPB can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Decreased reflex response
- Lou Gehrig's disease
- Muscle twitch
- Postural tremor
- Motor neuron atrophy
- Ongoing loss of nerve cells
- Abnormal pyramidal sign
- Absent reflexes
Show 22 more traits
- Anxiety
- Babinski sign
- Behavioral abnormality
- Bulbar signs
- Can't control feelings
- Cognitive impairment
- Depression
- Difficulty articulating speech
- Hoffmann sign
- Increased reflexes
- Loss of ability to walk
- Paralysis
- Difficulty sleeping
- Frontotemporal dementia
- High stepping
- Jaw hyperreflexia
- Language impairment
- Shuffled walk
- Tremor
- Waddling gait
- Abnormal pyramidal tract morphology
- Loss of brain cells
Abnormality of the musculoskeletal system
- Generalized muscle weakness
- Muscle spasm
- Proximal neurogenic muscle weakness
- Difficulty walking up stairs
- Distal muscle wasting
- EMG: neuropathic changes
- Fatigable weakness of bulbar muscles
- Fatigable weakness of respiratory muscles
Show 12 more traits
- Fatigable weakness of swallowing muscles
- Gowers sign
- Involuntary muscle stiffness, contraction, or spasm
- Muscle degeneration
- Progressive distal muscular atrophy
- Wasting of muscles near the body
- Weakness of outermost muscles
- Joint stiffness
- Myotonia
- Spastic paraparesis
- Progressive muscle weakness
- Spinal muscle degeneration
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.). VAPB gene: VAMP associated protein B and C. Retrieved 17 October 2026, from https://dantelabs.com/genes/vapb
Dante Labs. VAPB gene: VAMP associated protein B and C [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/vapb
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