Gene
RUBCN
rubicon autophagy regulator
- HGNC 28991(opens in a new tab)
- Ensembl gene ENSG00000145016(opens in a new tab)
- NCBI Gene 9711(opens in a new tab)
Summary
- Cytogenetic location
- 3q29
- Coordinates
- Chromosome 3: 197,668,867–197,736,904 (GRCh38)
- Exons
- 20 exons across 68 kb
- Protein
- 972 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- rubicon, rundataxin
- Previous symbols
- KIAA0226
- MANE Select transcript
- ENST00000296343.10NM_014687.4
- 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 reports relevant to this gene
Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)
- Autosomal Recessive Cerebellar AtaxiaAutosomal recessive
One of 57 genes linked to it
A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.
Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How RUBCN 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 9.3 kb of the gene's 68 kb; 2,919 of those bases code for the protein.
How a genome test reads RUBCN
3
positions in RUBCN 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 68 kb of RUBCN, introns included, not only the 9.3 kb of exons.
Traits linked to RUBCN
The Human Phenotype Ontology lists these as features of the rare conditions RUBCN can cause. Each trait's page lists the other genes linked to it.
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.). RUBCN gene: rubicon autophagy regulator. Retrieved 17 October 2026, from https://dantelabs.com/genes/rubcn
Dante Labs. RUBCN gene: rubicon autophagy regulator [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rubcn
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