Gene
VPS13C
vacuolar protein sorting 13 homolog C
- HGNC 23594↗(opens in a new tab)
- Ensembl gene ENSG00000129003↗(opens in a new tab)
- NCBI Gene 54832↗(opens in a new tab)
Summary
- Cytogenetic location
- 15q22.2
- Coordinates
- Chromosome 15: 61,852,389–62,060,447 (GRCh38)
- Exons
- 85 exons across 208.1 kb
- Protein
- 3,753 amino acids
- Also known as
- FLJ20136, FLJ10381, KIAA1421, BLTP5C, PARK23
- MANE Select transcript
- ENST00000644861.2NM_020821.3
- Locus type
- gene with protein product
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
Parkinson Disease
A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
LRRK2 kinase inhibitor trials, substrate reduction therapy for GBA variants, α-synuclein-targeted approaches, dopaminergic medications, levodopa
How VPS13C 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 13.4 kb of the gene's 208.1 kb; 11,262 of those bases code for the protein.
How a genome test reads VPS13C
37
positions in VPS13C 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 208.1 kb of VPS13C, introns included, not only the 13.4 kb of exons.
Genes linked to the same conditions
- ATP13A2ATPase cation transporting 13A2Shares 1 condition
- CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2Shares 1 condition
- DNAJC6DnaJ heat shock protein family (Hsp40) member C6Shares 1 condition
- FBXO7F-box protein 7Shares 1 condition
- GBA1glucosylceramidase beta 1Shares 1 condition
- LRRK2leucine rich repeat kinase 2Shares 1 condition
- MAPTmicrotubule associated protein tauShares 1 condition
- PARK7Parkinsonism associated deglycaseShares 1 condition
- PINK1PTEN induced kinase 1Shares 1 condition
- PLA2G6phospholipase A2 group VIShares 1 condition
- PRKNparkin RBR E3 ubiquitin protein ligaseShares 1 condition
- SNCAsynuclein alphaShares 1 condition
Traits linked to VPS13C
The Human Phenotype Ontology lists these as features of the rare conditions VPS13C can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Akinesia
- Dementia
- Lewy bodies
- Loss of ability to walk
- Loss of brain cells
- Mental deterioration
- Neurofibrillary tangles
- Parkinsonism with favorable response to dopaminergic medication
Show 29 more traits
- Resting tremor
- Slurred speech
- Abnormal autonomic nervous system physiology
- Abnormal pyramidal sign
- Balance impairment
- Confusion
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Depression
- Disorder of involuntary muscle movements
- Falls
- Freezing of gait
- Hallucinations
- Increased reflexes
- Lack of feeling, emotion, interest
- Limb dystonia
- Tremor
- Abnormality of balance
- Anxiety
- Cognitive impairment
- Difficulty staying or falling asleep
- Dystonia
- Panic attack
- Poor social interactions
- Short attention span
- Slow movements
- Willis-Ekbom disease
- Agitation
- Frontal lobe dementia
- Impulsivity
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.). VPS13C gene: vacuolar protein sorting 13 homolog C. Retrieved 17 October 2026, from https://dantelabs.com/genes/vps13c
Dante Labs. VPS13C gene: vacuolar protein sorting 13 homolog C [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/vps13c
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