RUBCN Chromosome 3
Rubicon autophagy regulator
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What This Gene Does
The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
"PIK3C3 complex subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
3q29
Ensembl
ENSG00000145016
Associated Conditions (3)
Autosomal recessive spinocerebellar ataxia 15
Sarcoma
Spinocerebellar ataxia type 15/16
Key Variants
RS115638090
Conflicting classifications of pathogenicity
Health Risk
RS141198920
Conflicting classifications of pathogenicity
Health Risk
RS145980033
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15
Health Risk
RS200532942
Conflicting classifications of pathogenicity
Health Risk
RS201343662
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 15, Sarcoma, Autosomal recessive spinocerebellar ataxia 15
Health Risk
RS201413387
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15
Health Risk
RS201775281
Conflicting classifications of pathogenicity
Health Risk
RS2474191525
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15
Health Risk
RS746764220
Likely pathogenic
Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 15/16
Health Risk
RS375400873
Pathogenic
Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15
Health Risk
RS587777235
Pathogenic
Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115638090 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141198920 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145980033 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15 |
| RS200532942 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201343662 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 15, Sarcoma, Autosomal recessive spinocerebellar ataxia 15 |
| RS201413387 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15 |
| RS201775281 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2474191525 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15 |
| RS746764220 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 15/16 |
| RS375400873 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15 |
| RS587777235 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15 |