Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9711
Gene name Gene Name - the full gene name approved by the HGNC.	Rubicon autophagy regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RUBCN
Synonyms (NCBI Gene) Gene synonyms aliases	KIAA0226, RUBICON, SCAR15
Disease Acronyms (UniProt) Disease acronyms from UniProt database	SCAR15
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q29
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

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
MIRT474829	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT474828	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT474827	hsa-miR-6768-3p	PAR-CLIP	23592263
MIRT474826	hsa-miR-6165	PAR-CLIP	23592263
MIRT474825	hsa-miR-922	PAR-CLIP	23592263
MIRT474824	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT474823	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT474822	hsa-miR-761	PAR-CLIP	23592263
MIRT474821	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT474820	hsa-miR-539-5p	PAR-CLIP	23592263
MIRT474819	hsa-miR-6134	PAR-CLIP	23592263
MIRT474818	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT474817	hsa-miR-876-3p	PAR-CLIP	23592263
MIRT474816	hsa-miR-380-5p	PAR-CLIP	23592263
MIRT474815	hsa-miR-563	PAR-CLIP	23592263
MIRT474814	hsa-miR-1273g-5p	PAR-CLIP	23592263
MIRT474813	hsa-miR-4291	PAR-CLIP	23592263
MIRT474812	hsa-miR-580-3p	PAR-CLIP	23592263
MIRT440396	hsa-miR-543	HITS-CLIP	24374217
MIRT440396	hsa-miR-543	HITS-CLIP	24374217

Show/Hide all(25)

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
GO:0005654	Component	Nucleoplasm	IDA
GO:0005764	Component	Lysosome	IEA
GO:0005769	Component	Early endosome	IBA	21873635
GO:0005769	Component	Early endosome	IDA	19270696
GO:0005770	Component	Late endosome	IBA	21873635
GO:0005770	Component	Late endosome	IDA	19270696
GO:0005794	Component	Golgi apparatus	IDA	19270696
GO:0005829	Component	Cytosol	IDA
GO:0006897	Process	Endocytosis	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0006914	Process	Autophagy	IEA
GO:0010507	Process	Negative regulation of autophagy	IMP	19270696
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043553	Process	Negative regulation of phosphatidylinositol 3-kinase activity	IBA	21873635
GO:0043553	Process	Negative regulation of phosphatidylinositol 3-kinase activity	IDA	21062745
GO:0045806	Process	Negative regulation of endocytosis	IBA	21873635
GO:0045806	Process	Negative regulation of endocytosis	IMP	19270696
GO:0071985	Process	Multivesicular body sorting pathway	TAS	21118109
GO:1901097	Process	Negative regulation of autophagosome maturation	IBA	21873635
GO:1901097	Process	Negative regulation of autophagosome maturation	IMP	21062745
GO:1901097	Process	Negative regulation of autophagosome maturation	TAS	21118109
GO:1901981	Function	Phosphatidylinositol phosphate binding	IBA	21873635

MIM	HGNC	e!Ensembl
613516	28991	ENSG00000145016

Protein

UniProt ID

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

	KEGG
	Autophagy - animal

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Spinocerebellar ataxia	Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926 View all (203 more)	20826435, 23728897
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Spinocerebellar Ataxia	autosomal recessive spinocerebellar ataxia 15			GenCC

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Kidney Neoplasms	Associate	37898101
Liver Diseases	Associate	32001325
Spinocerebellar Ataxias	Associate	32450808
Virus Diseases	Associate	28392573

RUBCN (rubicon autophagy regulator)