RUBCN (rubicon autophagy regulator)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9711
Gene name Rubicon autophagy regulator
Gene symbol RUBCN
Synonyms (NCBI Gene)
KIAA0226RUBICONSCAR15
Chromosome 3
Chromosome location 3q29
Summary 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 invo
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs115638090 C>T Conflicting-interpretations-of-pathogenicity 5 prime UTR variant, missense variant, coding sequence variant
rs587777235 G>- Pathogenic Coding sequence variant, frameshift variant
rs767982852 T>C Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs1114167292 C>T Pathogenic, uncertain-significance Missense variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
25
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
miRTarBase ID miRNA Experiments Reference
MIRT474834 hsa-miR-15b-5p PAR-CLIP 23592263
MIRT474833 hsa-miR-497-5p PAR-CLIP 23592263
MIRT474832 hsa-miR-195-5p PAR-CLIP 23592263
MIRT474831 hsa-miR-16-5p PAR-CLIP 23592263
MIRT474830 hsa-miR-6838-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 19270696, 20562859, 21062745, 22493499, 23954414, 24034250, 25594178, 32296183, 33961781, 34386498, 35271311, 35512704
GO:0005654 Component Nucleoplasm IDA
GO:0005764 Component Lysosome IEA
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613516 28991 ENSG00000145016
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92622
Protein name Run domain Beclin-1-interacting and cysteine-rich domain-containing protein (Rubicon) (Beclin-1 associated RUN domain containing protein) (Baron)
Protein function Inhibits PIK3C3 activity; under basal conditions negatively regulates PI3K complex II (PI3KC3-C2) function in autophagy. Negatively regulates endosome maturation and degradative endocytic trafficking and impairs autophagosome maturation process.
PDB 6WCW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02759 RUN 56 → 181 RUN domain Family
PF13901 zf-RING_9 737 → 937 Putative zinc-RING and/or ribbon Domain
Sequence 
MRPEGAGMELGGGEERLPEESRREHWQLLGNLKTTVEGLVSTNSPNVWSKYGGLERLCRD
MQSILYHGLIRDQACRRQTDYWQFVKDIRWLSPHSALHVEKFISVHENDQSSADGASERA
VAELWLQHSLQYHCLSAQLRPLLGDRQYIRKFYTDAAFLLSDAHVTAMLQCLEAVEQNNP
RLLAQIDASMFARKHESPLLVTKSQSLTALPSSTYTPPNSYAQHSYFGSFSSLHQSVPNN
GSERRSTSFPLSGPPRKPQESRGHVSPAEDQTIQAPPVSVSALARDSPLTPNEMSSSTLT
SPIEASWVSSQNDSPGDASEGPEYLAIGNLDPRGRTASCQSHSSNAESSSSNLFSSSSSQ
KPDSAASSLGDQEGGGESQLSSVLRRSSFSEGQTLTVTSGAKKSHIRSHSDTSIASRGAP
ESCNDKAKLRGPLPYSGQSSEVSTPSSLYMEYEGGRYLCSGEGMFRRPSEGQSLISYLSE
QDFGSCADLEKENAHFSISESLIAAIELMKCNMMSQCLEEEEVEEEDSDREIQELKQKIR
LRRQQIRTKNLLPMYQEAEHGSFRVTSSSSQFSSRDSAQLSDSGSADEVDEFEIQDADIR
RNTASSSKSFVSSQSFSHCFLHSTSAEAVAMGLLKQFEGMQLPAASELEWLVPEHDAPQK
LLPIPDSLPISPDDGQHADIYKLRIRVRGNLEWAPPRPQIIFNVHPAPTRKIAVAKQNYR
CAGCGIRTDPDYIKRLRYCEYLGKYFCQCCHENAQMAIPSRVLRKWDFSKYYVSNFSKDL
LIKIWNDPLFNVQDINSALYRKVKLLNQVRLLRVQLCHMKNMFKTCRLAKELLDSFDTVP
GHLTEDLHLYSLNDLTATRKGELGPRLAELTRAGATHVERCMLCQAKGFICEFCQNEDDI
IFPFELHKCRTCEECKACYHKACFKSGSCPRCERLQARREALARQSLESYLSDYEEEPAE
ALALEAAVLEAT
Sequence length 972
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Autophagy - animal  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive spinocerebellar ataxia 15 Pathogenic; Likely pathogenic rs587777235, rs2474191525, rs375400873 RCV000106316
RCV003234625
RCV003584026
Spinocerebellar ataxia type 15/16 Likely pathogenic rs746764220 RCV004515772
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
RUBCN-related disorder Likely benign; Benign rs921946429, rs375842322, rs200274445, rs183738683, rs369069485, rs61746462, rs1262622403, rs61743909, rs191663566, rs369723761, rs374081741 RCV003912085
RCV003977050
RCV003897278
RCV003941742
RCV003941981
RCV003937348
RCV003937069
RCV003930496
RCV003910766
RCV003902931
RCV003902928
Sarcoma Conflicting classifications of pathogenicity rs201343662 RCV005912258
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Albuminuria Stimulate 36476132
Atrophy Associate 32450808
Carcinoma Hepatocellular Associate 33650674
Carcinoma Non Small Cell Lung Associate 34932879
Carcinoma Renal Cell Associate 37898101
Cholestasis Associate 32001325
Diabetes Mellitus Stimulate 36476132
Diabetic Nephropathies Associate 36476132
Gait Ataxia Associate 32450808
Hepatitis B Stimulate 28392573