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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6009
Gene name	Ras homolog, mTORC1 binding
Gene symbol	RHEB
Synonyms (NCBI Gene)	RHEB2
Chromosome	7
Chromosome location	7q36.1
Summary	This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519949	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519950	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1554438588	T>A	Likely-pathogenic	Coding sequence variant, missense variant

292

Show/Hide all (292)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001505	hsa-miR-155-5p	pSILAC	18668040
MIRT001505	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT001505	hsa-miR-155-5p	Proteomics	18668040
MIRT049778	hsa-miR-92a-3p	CLASH	23622248
MIRT040755	hsa-miR-18a-3p	CLASH	23622248
MIRT037399	hsa-miR-744-5p	CLASH	23622248
MIRT001505	hsa-miR-155-5p	Microarray	23807165
MIRT736012	hsa-miR-1301-3p	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)qRT-PCRIn situ hybridization	32547198
MIRT1305021	hsa-miR-1184	CLIP-seq
MIRT1305022	hsa-miR-1205	CLIP-seq
MIRT1305023	hsa-miR-1244	CLIP-seq
MIRT1305024	hsa-miR-1273d	CLIP-seq
MIRT1305025	hsa-miR-1289	CLIP-seq
MIRT1305026	hsa-miR-1301	CLIP-seq
MIRT1305027	hsa-miR-1321	CLIP-seq
MIRT1305028	hsa-miR-141	CLIP-seq
MIRT1305029	hsa-miR-142-3p	CLIP-seq
MIRT1305030	hsa-miR-194	CLIP-seq
MIRT1305031	hsa-miR-1972	CLIP-seq
MIRT1305032	hsa-miR-200a	CLIP-seq
MIRT1305033	hsa-miR-214	CLIP-seq
MIRT1305034	hsa-miR-3143	CLIP-seq
MIRT1305035	hsa-miR-3145-5p	CLIP-seq
MIRT1305036	hsa-miR-3158-5p	CLIP-seq
MIRT1305037	hsa-miR-3179	CLIP-seq
MIRT1305038	hsa-miR-323-3p	CLIP-seq
MIRT1305039	hsa-miR-338-5p	CLIP-seq
MIRT1305040	hsa-miR-3619-5p	CLIP-seq
MIRT1305041	hsa-miR-3682-3p	CLIP-seq
MIRT1305042	hsa-miR-3691-3p	CLIP-seq
MIRT1305043	hsa-miR-3927	CLIP-seq
MIRT1305044	hsa-miR-3938	CLIP-seq
MIRT1305045	hsa-miR-3977	CLIP-seq
MIRT1305046	hsa-miR-4252	CLIP-seq
MIRT1305047	hsa-miR-4256	CLIP-seq
MIRT1305048	hsa-miR-4270	CLIP-seq
MIRT1305049	hsa-miR-4280	CLIP-seq
MIRT1305050	hsa-miR-4291	CLIP-seq
MIRT1305051	hsa-miR-4300	CLIP-seq
MIRT1305052	hsa-miR-4323	CLIP-seq
MIRT1305053	hsa-miR-4424	CLIP-seq
MIRT1305054	hsa-miR-4428	CLIP-seq
MIRT1305055	hsa-miR-4441	CLIP-seq
MIRT1305056	hsa-miR-4464	CLIP-seq
MIRT1305057	hsa-miR-4650-3p	CLIP-seq
MIRT1305058	hsa-miR-4660	CLIP-seq
MIRT1305059	hsa-miR-4691-3p	CLIP-seq
MIRT1305060	hsa-miR-4699-3p	CLIP-seq
MIRT1305061	hsa-miR-4711-5p	CLIP-seq
MIRT1305062	hsa-miR-4717-5p	CLIP-seq
MIRT1305063	hsa-miR-4724-5p	CLIP-seq
MIRT1305064	hsa-miR-4728-5p	CLIP-seq
MIRT1305065	hsa-miR-4739	CLIP-seq
MIRT1305066	hsa-miR-4740-5p	CLIP-seq
MIRT1305067	hsa-miR-4748	CLIP-seq
MIRT1305068	hsa-miR-4756-5p	CLIP-seq
MIRT1305069	hsa-miR-4778-3p	CLIP-seq
MIRT1305070	hsa-miR-4786-3p	CLIP-seq
MIRT1305071	hsa-miR-4803	CLIP-seq
MIRT1305072	hsa-miR-5047	CLIP-seq
MIRT1305073	hsa-miR-548ag	CLIP-seq
MIRT1305074	hsa-miR-548ai	CLIP-seq
MIRT1305075	hsa-miR-586	CLIP-seq
MIRT1305076	hsa-miR-600	CLIP-seq
MIRT1305077	hsa-miR-624	CLIP-seq
MIRT1305078	hsa-miR-759	CLIP-seq
MIRT1305079	hsa-miR-761	CLIP-seq
MIRT1305080	hsa-miR-767-3p	CLIP-seq
MIRT1305081	hsa-miR-920	CLIP-seq
MIRT1305082	hsa-miR-922	CLIP-seq
MIRT1305083	hsa-miR-939	CLIP-seq
MIRT1305069	hsa-miR-4778-3p	CLIP-seq
MIRT2090302	hsa-miR-1197	CLIP-seq
MIRT1305026	hsa-miR-1301	CLIP-seq
MIRT2090303	hsa-miR-1976	CLIP-seq
MIRT2090304	hsa-miR-199a-5p	CLIP-seq
MIRT2090305	hsa-miR-199b-5p	CLIP-seq
MIRT1305033	hsa-miR-214	CLIP-seq
MIRT2090306	hsa-miR-3120-5p	CLIP-seq
MIRT2090307	hsa-miR-3155	CLIP-seq
MIRT2090308	hsa-miR-3155b	CLIP-seq
MIRT1305040	hsa-miR-3619-5p	CLIP-seq
MIRT2090309	hsa-miR-4268	CLIP-seq
MIRT1305050	hsa-miR-4291	CLIP-seq
MIRT2090310	hsa-miR-4421	CLIP-seq
MIRT1305058	hsa-miR-4660	CLIP-seq
MIRT2090311	hsa-miR-4685-5p	CLIP-seq
MIRT2090312	hsa-miR-4708-3p	CLIP-seq
MIRT2090313	hsa-miR-4742-5p	CLIP-seq
MIRT2090314	hsa-miR-484	CLIP-seq
MIRT1305072	hsa-miR-5047	CLIP-seq
MIRT2090315	hsa-miR-542-3p	CLIP-seq
MIRT2090316	hsa-miR-646	CLIP-seq
MIRT1305079	hsa-miR-761	CLIP-seq
MIRT1305082	hsa-miR-922	CLIP-seq
MIRT2315163	hsa-miR-103a	CLIP-seq
MIRT2315164	hsa-miR-107	CLIP-seq
MIRT1305023	hsa-miR-1244	CLIP-seq
MIRT2315165	hsa-miR-1297	CLIP-seq
MIRT1305026	hsa-miR-1301	CLIP-seq
MIRT1305028	hsa-miR-141	CLIP-seq
MIRT1305029	hsa-miR-142-3p	CLIP-seq
MIRT1305030	hsa-miR-194	CLIP-seq
MIRT2090304	hsa-miR-199a-5p	CLIP-seq
MIRT2090305	hsa-miR-199b-5p	CLIP-seq
MIRT1305032	hsa-miR-200a	CLIP-seq
MIRT1305033	hsa-miR-214	CLIP-seq
MIRT2315166	hsa-miR-26a	CLIP-seq
MIRT2315167	hsa-miR-26b	CLIP-seq
MIRT2090307	hsa-miR-3155	CLIP-seq
MIRT2090308	hsa-miR-3155b	CLIP-seq
MIRT1305039	hsa-miR-338-5p	CLIP-seq
MIRT1305040	hsa-miR-3619-5p	CLIP-seq
MIRT2315168	hsa-miR-3909	CLIP-seq
MIRT1305043	hsa-miR-3927	CLIP-seq
MIRT1305044	hsa-miR-3938	CLIP-seq
MIRT1305045	hsa-miR-3977	CLIP-seq
MIRT2090309	hsa-miR-4268	CLIP-seq
MIRT1305049	hsa-miR-4280	CLIP-seq
MIRT2315169	hsa-miR-4282	CLIP-seq
MIRT1305050	hsa-miR-4291	CLIP-seq
MIRT1305054	hsa-miR-4428	CLIP-seq
MIRT2315170	hsa-miR-4465	CLIP-seq
MIRT1305057	hsa-miR-4650-3p	CLIP-seq
MIRT1305058	hsa-miR-4660	CLIP-seq
MIRT1305063	hsa-miR-4724-5p	CLIP-seq
MIRT1305069	hsa-miR-4778-3p	CLIP-seq
MIRT1305070	hsa-miR-4786-3p	CLIP-seq
MIRT2090314	hsa-miR-484	CLIP-seq
MIRT2315171	hsa-miR-488	CLIP-seq
MIRT1305072	hsa-miR-5047	CLIP-seq
MIRT2315172	hsa-miR-556-5p	CLIP-seq
MIRT2315173	hsa-miR-633	CLIP-seq
MIRT2090316	hsa-miR-646	CLIP-seq
MIRT1305079	hsa-miR-761	CLIP-seq
MIRT1305082	hsa-miR-922	CLIP-seq
MIRT2315165	hsa-miR-1297	CLIP-seq
MIRT1305026	hsa-miR-1301	CLIP-seq
MIRT2315166	hsa-miR-26a	CLIP-seq
MIRT2315167	hsa-miR-26b	CLIP-seq
MIRT2393709	hsa-miR-4462	CLIP-seq
MIRT1305056	hsa-miR-4464	CLIP-seq
MIRT2315170	hsa-miR-4465	CLIP-seq
MIRT2393710	hsa-miR-4520a-3p	CLIP-seq
MIRT2393711	hsa-miR-4520b-3p	CLIP-seq
MIRT1305058	hsa-miR-4660	CLIP-seq
MIRT1305060	hsa-miR-4699-3p	CLIP-seq
MIRT1305067	hsa-miR-4748	CLIP-seq
MIRT1305069	hsa-miR-4778-3p	CLIP-seq
MIRT1305072	hsa-miR-5047	CLIP-seq
MIRT2315172	hsa-miR-556-5p	CLIP-seq
MIRT2393712	hsa-miR-562	CLIP-seq
MIRT2393713	hsa-miR-610	CLIP-seq
MIRT1305078	hsa-miR-759	CLIP-seq
MIRT2432720	hsa-miR-155	CLIP-seq
MIRT2432721	hsa-miR-3163	CLIP-seq
MIRT2432722	hsa-miR-365	CLIP-seq
MIRT2315169	hsa-miR-4282	CLIP-seq
MIRT1305025	hsa-miR-1289	CLIP-seq
MIRT1305033	hsa-miR-214	CLIP-seq
MIRT1305040	hsa-miR-3619-5p	CLIP-seq
MIRT1305050	hsa-miR-4291	CLIP-seq
MIRT1305059	hsa-miR-4691-3p	CLIP-seq
MIRT1305079	hsa-miR-761	CLIP-seq
MIRT1305082	hsa-miR-922	CLIP-seq
MIRT1305025	hsa-miR-1289	CLIP-seq
MIRT1305033	hsa-miR-214	CLIP-seq
MIRT1305040	hsa-miR-3619-5p	CLIP-seq
MIRT1305050	hsa-miR-4291	CLIP-seq
MIRT1305059	hsa-miR-4691-3p	CLIP-seq
MIRT1305079	hsa-miR-761	CLIP-seq
MIRT1305082	hsa-miR-922	CLIP-seq
MIRT2315163	hsa-miR-103a	CLIP-seq
MIRT2315164	hsa-miR-107	CLIP-seq
MIRT1305023	hsa-miR-1244	CLIP-seq
MIRT1305025	hsa-miR-1289	CLIP-seq
MIRT1305026	hsa-miR-1301	CLIP-seq
MIRT1305027	hsa-miR-1321	CLIP-seq
MIRT1305029	hsa-miR-142-3p	CLIP-seq
MIRT2432720	hsa-miR-155	CLIP-seq
MIRT1305030	hsa-miR-194	CLIP-seq
MIRT2090304	hsa-miR-199a-5p	CLIP-seq
MIRT2090305	hsa-miR-199b-5p	CLIP-seq
MIRT1305033	hsa-miR-214	CLIP-seq
MIRT2611456	hsa-miR-3065-3p	CLIP-seq
MIRT2611457	hsa-miR-3065-5p	CLIP-seq
MIRT1305034	hsa-miR-3143	CLIP-seq
MIRT2090307	hsa-miR-3155	CLIP-seq
MIRT2090308	hsa-miR-3155b	CLIP-seq
MIRT2432721	hsa-miR-3163	CLIP-seq
MIRT1305037	hsa-miR-3179	CLIP-seq
MIRT1305038	hsa-miR-323-3p	CLIP-seq
MIRT1305039	hsa-miR-338-5p	CLIP-seq
MIRT1305040	hsa-miR-3619-5p	CLIP-seq
MIRT2611458	hsa-miR-3647-3p	CLIP-seq
MIRT2432722	hsa-miR-365	CLIP-seq
MIRT2611459	hsa-miR-3653	CLIP-seq
MIRT2611460	hsa-miR-3658	CLIP-seq
MIRT1305041	hsa-miR-3682-3p	CLIP-seq
MIRT2315168	hsa-miR-3909	CLIP-seq
MIRT1305043	hsa-miR-3927	CLIP-seq
MIRT1305044	hsa-miR-3938	CLIP-seq
MIRT1305045	hsa-miR-3977	CLIP-seq
MIRT2611461	hsa-miR-410	CLIP-seq
MIRT1305047	hsa-miR-4256	CLIP-seq
MIRT2090309	hsa-miR-4268	CLIP-seq
MIRT1305049	hsa-miR-4280	CLIP-seq
MIRT2315169	hsa-miR-4282	CLIP-seq
MIRT1305050	hsa-miR-4291	CLIP-seq
MIRT1305051	hsa-miR-4300	CLIP-seq
MIRT1305053	hsa-miR-4424	CLIP-seq
MIRT1305054	hsa-miR-4428	CLIP-seq
MIRT2393709	hsa-miR-4462	CLIP-seq
MIRT2611462	hsa-miR-4477a	CLIP-seq
MIRT2611463	hsa-miR-4517	CLIP-seq
MIRT1305057	hsa-miR-4650-3p	CLIP-seq
MIRT1305058	hsa-miR-4660	CLIP-seq
MIRT2611464	hsa-miR-4666-3p	CLIP-seq
MIRT1305059	hsa-miR-4691-3p	CLIP-seq
MIRT2611465	hsa-miR-4704-3p	CLIP-seq
MIRT1305061	hsa-miR-4711-5p	CLIP-seq
MIRT1305064	hsa-miR-4728-5p	CLIP-seq
MIRT1305065	hsa-miR-4739	CLIP-seq
MIRT1305068	hsa-miR-4756-5p	CLIP-seq
MIRT2611466	hsa-miR-4761-5p	CLIP-seq
MIRT1305069	hsa-miR-4778-3p	CLIP-seq
MIRT1305070	hsa-miR-4786-3p	CLIP-seq
MIRT1305071	hsa-miR-4803	CLIP-seq
MIRT2090314	hsa-miR-484	CLIP-seq
MIRT2611467	hsa-miR-495	CLIP-seq
MIRT1305072	hsa-miR-5047	CLIP-seq
MIRT2315172	hsa-miR-556-5p	CLIP-seq
MIRT1305075	hsa-miR-586	CLIP-seq
MIRT2393713	hsa-miR-610	CLIP-seq
MIRT2315173	hsa-miR-633	CLIP-seq
MIRT2090316	hsa-miR-646	CLIP-seq
MIRT1305078	hsa-miR-759	CLIP-seq
MIRT1305079	hsa-miR-761	CLIP-seq
MIRT1305081	hsa-miR-920	CLIP-seq
MIRT1305082	hsa-miR-922	CLIP-seq
MIRT1305083	hsa-miR-939	CLIP-seq
MIRT1305023	hsa-miR-1244	CLIP-seq
MIRT1305025	hsa-miR-1289	CLIP-seq
MIRT1305027	hsa-miR-1321	CLIP-seq
MIRT1305029	hsa-miR-142-3p	CLIP-seq
MIRT2432720	hsa-miR-155	CLIP-seq
MIRT1305030	hsa-miR-194	CLIP-seq
MIRT2090304	hsa-miR-199a-5p	CLIP-seq
MIRT2090305	hsa-miR-199b-5p	CLIP-seq
MIRT1305033	hsa-miR-214	CLIP-seq
MIRT1305034	hsa-miR-3143	CLIP-seq
MIRT2090307	hsa-miR-3155	CLIP-seq
MIRT2090308	hsa-miR-3155b	CLIP-seq
MIRT2432721	hsa-miR-3163	CLIP-seq
MIRT1305037	hsa-miR-3179	CLIP-seq
MIRT1305039	hsa-miR-338-5p	CLIP-seq
MIRT1305040	hsa-miR-3619-5p	CLIP-seq
MIRT2432722	hsa-miR-365	CLIP-seq
MIRT2611459	hsa-miR-3653	CLIP-seq
MIRT2611460	hsa-miR-3658	CLIP-seq
MIRT1305041	hsa-miR-3682-3p	CLIP-seq
MIRT1305043	hsa-miR-3927	CLIP-seq
MIRT1305044	hsa-miR-3938	CLIP-seq
MIRT1305045	hsa-miR-3977	CLIP-seq
MIRT2090309	hsa-miR-4268	CLIP-seq
MIRT1305049	hsa-miR-4280	CLIP-seq
MIRT2315169	hsa-miR-4282	CLIP-seq
MIRT1305050	hsa-miR-4291	CLIP-seq
MIRT1305053	hsa-miR-4424	CLIP-seq
MIRT1305054	hsa-miR-4428	CLIP-seq
MIRT2393709	hsa-miR-4462	CLIP-seq
MIRT2611462	hsa-miR-4477a	CLIP-seq
MIRT1305057	hsa-miR-4650-3p	CLIP-seq
MIRT1305058	hsa-miR-4660	CLIP-seq
MIRT2611464	hsa-miR-4666-3p	CLIP-seq
MIRT1305059	hsa-miR-4691-3p	CLIP-seq
MIRT1305061	hsa-miR-4711-5p	CLIP-seq
MIRT1305064	hsa-miR-4728-5p	CLIP-seq
MIRT1305065	hsa-miR-4739	CLIP-seq
MIRT1305068	hsa-miR-4756-5p	CLIP-seq
MIRT1305069	hsa-miR-4778-3p	CLIP-seq
MIRT1305070	hsa-miR-4786-3p	CLIP-seq
MIRT1305071	hsa-miR-4803	CLIP-seq
MIRT2090314	hsa-miR-484	CLIP-seq
MIRT2315172	hsa-miR-556-5p	CLIP-seq
MIRT1305075	hsa-miR-586	CLIP-seq
MIRT2393713	hsa-miR-610	CLIP-seq
MIRT2315173	hsa-miR-633	CLIP-seq
MIRT2090316	hsa-miR-646	CLIP-seq
MIRT1305078	hsa-miR-759	CLIP-seq
MIRT1305079	hsa-miR-761	CLIP-seq
MIRT1305082	hsa-miR-922	CLIP-seq

Show/Hide all (65)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IDA	28890335
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IMP	15728574
GO:0002181	Process	Cytoplasmic translation	IDA	8706699, 34314702
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	15340059, 22819219, 29416044, 32470140
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	8206940
GO:0005515	Function	Protein binding	IPI	17301792, 18550814, 23559067, 28514442, 32296183, 32814053
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	IMP	15728574
GO:0005525	Function	GTP binding	ISS
GO:0005525	Function	GTP binding	TAS	8543055
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	24529379, 33157014
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	8661031
GO:0007264	Process	Small GTPase-mediated signal transduction	IBA
GO:0009615	Process	Response to virus	IEA
GO:0010507	Process	Negative regulation of autophagy	IDA	32561715
GO:0012505	Component	Endomembrane system	IDA	22002721
GO:0012505	Component	Endomembrane system	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0014069	Component	Postsynaptic density	EXP	27898073
GO:0014069	Component	Postsynaptic density	IDA	27898073
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8206940
GO:0016241	Process	Regulation of macroautophagy	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0019003	Function	GDP binding	IBA
GO:0019003	Function	GDP binding	IMP	15728574
GO:0019901	Function	Protein kinase binding	IEA
GO:0030295	Function	Protein kinase activator activity	IDA	29236692, 33157014
GO:0031669	Process	Cellular response to nutrient levels	IDA	29750193, 32561715
GO:0031669	Process	Cellular response to nutrient levels	IDA	29236692
GO:0032006	Process	Regulation of TOR signaling	IEA
GO:0032008	Process	Positive regulation of TOR signaling	IEA
GO:0032008	Process	Positive regulation of TOR signaling	IMP	20381137
GO:0038202	Process	TORC1 signaling	IDA	12087098, 29750193
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	15854902, 29236692
GO:0045202	Component	Synapse	IEA
GO:0045947	Process	Negative regulation of translational initiation	IDA	22578813
GO:0045948	Process	Positive regulation of translational initiation	IDA	1922062, 29750193
GO:0046872	Function	Metal ion binding	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA
GO:0051726	Process	Regulation of cell cycle	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	28242620
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	12172553, 12842888, 12906785, 15340059, 22819219, 24529379, 29236692, 29416044, 30514904, 32470140, 33157014
GO:1904263	Process	Positive regulation of TORC1 signaling	IEA
GO:2000074	Process	Regulation of type B pancreatic cell development	IMP	19258434

MIM	HGNC	e!Ensembl
601293	10011	ENSG00000106615

Q15382

Protein name

GTP-binding protein Rheb (EC 3.6.5.-) (Ras homolog enriched in brain)

Protein function

Small GTPase that acts as an allosteric activator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and g

PDB

1XTQ , 1XTR , 1XTS , 3SEA , 3T5G , 5YXH , 6BCU , 6BSX , 6BT0 , 7BTA , 7BTC , 7BTD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	8 → 169	Ras family	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous (PubMed:8543055). Highest levels observed in skeletal and cardiac muscle (PubMed:8543055). {ECO:0000269|PubMed:8543055}.

Sequence

MPQSKSRKIAILGYRSVGKSSLTIQFVEGQFVDSYDPTIENTFTKLITVNGQEYHLQLVD
TAGQDEYSIFPQTYSIDINGYILVYSVTSIKSFEVIKVIHGKLLDMVGKVQIPIMLVGNK
KDLHMERVISYEEGKALAESWNAAFLESSAKENQTAVDVFRRIILEAEKMDGAASQGKSS
CSVM

Sequence length

184

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hemimegalencephaly	Likely pathogenic	rs1554438588	RCV000656704
Isolated focal cortical dysplasia type II	Pathogenic	rs2536111758	RCV004566491

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Hepatocellular carcinoma	Benign	rs6956899	RCV005915855
Intellectual disability	Conflicting classifications of pathogenicity	rs2536111808	RCV005410964
Neurodevelopmental delay	Uncertain significance	rs1803142082	RCV001725806
RHEB-related disorder	Benign	rs6956899	RCV003980861
Seizure	Uncertain significance	rs1803142082	RCV001725806

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	37440991
Amino Acid Metabolism Inborn Errors	Associate	12906785
Brain Diseases	Associate	33434304
Breast Neoplasms	Associate	27013580
Carcinogenesis	Associate	32348753
Carcinoma Hepatocellular	Associate	24312415, 32807131
Carcinoma Non Small Cell Lung	Associate	35844793
Carcinoma Renal Cell	Associate	26255626
Cardiomyopathy Dilated	Associate	34783037
Drug Related Side Effects and Adverse Reactions	Associate	23996484
Epilepsy	Associate	36631516
Exostoses	Associate	34582124
Focal Cortical Dysplasia	Associate	33434304
Ganglioglioma	Associate	24374956, 36973520
Glycogen Storage Disease 0 Muscle	Stimulate	34783037
Hemimegalencephaly	Associate	31444548, 33434304, 37015817
Insulin Resistance	Stimulate	15380067
Insulin Resistance	Associate	17986714
Leukemia Myeloid Acute	Associate	23996484
Leukoplakia	Associate	32184411
Lymphangioleiomyomatosis	Associate	16575396, 19060845
Lymphoma Non Hodgkin	Associate	38460672
Malformations of Cortical Development	Associate	33434304, 36631516, 37015817
Mammary Neoplasms Animal	Associate	32348753
Muscle Hypotonia	Associate	34582124
Neoplasms	Stimulate	18538015
Neoplasms	Associate	27013580, 29236692, 29320991, 32348753
Nerve Degeneration	Associate	33434304
Neurologic Manifestations	Associate	34582124
Ovarian Neoplasms	Associate	26319900, 35941978
Prostatic Neoplasms	Associate	32264916
Spondylitis Ankylosing	Associate	28848090
Tuberous Sclerosis	Associate	27493206, 32502382, 37015817

RHEB (Ras homolog, mTORC1 binding)