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	51715
Gene name	RAB23, member RAS oncogene family
Gene symbol	RAB23
Synonyms (NCBI Gene)	HSPC137
Chromosome	6
Chromosome location	6p12.1-p11.2
Summary	This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The enco

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121908171	A>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs765443042	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, non coding transcript variant
rs1060505026	C>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1438138090	->A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1593223800	->T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1593223920	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

317

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001513	hsa-miR-155-5p	pSILAC	18668040
MIRT001513	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT024924	hsa-miR-215-5p	Microarray	19074876
MIRT026693	hsa-miR-192-5p	Microarray	19074876
MIRT027149	hsa-miR-103a-3p	Sequencing	20371350
MIRT029882	hsa-miR-26b-5p	Microarray	19088304
MIRT031315	hsa-miR-18a-5p	Sequencing	20371350
MIRT031846	hsa-miR-16-5p	Sequencing	20371350
MIRT050809	hsa-miR-17-5p	CLASH	23622248
MIRT050809	hsa-miR-17-5p	CLASH	23622248
MIRT040385	hsa-miR-615-3p	CLASH	23622248
MIRT054886	hsa-miR-200b-3p	Luciferase reporter assayqRT-PCRWestern blot	24477653
MIRT647839	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT647838	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT647837	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT647836	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT647835	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT647834	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT647833	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT647832	hsa-miR-1468-3p	HITS-CLIP	23824327
MIRT647831	hsa-miR-548aw	HITS-CLIP	23824327
MIRT647830	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT647829	hsa-miR-527	HITS-CLIP	23824327
MIRT555036	hsa-miR-548p	PAR-CLIP	21572407
MIRT555035	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT555034	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT031846	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT555033	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT555032	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT555031	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT555030	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT555029	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT555028	hsa-miR-5190	PAR-CLIP	21572407
MIRT555027	hsa-miR-4797-3p	PAR-CLIP	21572407
MIRT555026	hsa-miR-4264	PAR-CLIP	21572407
MIRT555025	hsa-miR-4468	PAR-CLIP	21572407
MIRT555024	hsa-miR-7112-3p	PAR-CLIP	21572407
MIRT555023	hsa-miR-4711-5p	PAR-CLIP	21572407
MIRT555022	hsa-miR-4694-5p	PAR-CLIP	21572407
MIRT555021	hsa-miR-597-3p	PAR-CLIP	21572407
MIRT555020	hsa-miR-3152-3p	PAR-CLIP	21572407
MIRT555019	hsa-miR-4276	PAR-CLIP	21572407
MIRT555021	hsa-miR-597-3p	Luciferase reporter assayWestern blottingqRT-PCR	32856288
MIRT647839	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT647838	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT647837	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT647836	hsa-miR-548aj-5p	HITS-CLIP	23824327
MIRT647835	hsa-miR-548f-5p	HITS-CLIP	23824327
MIRT647834	hsa-miR-548g-5p	HITS-CLIP	23824327
MIRT647833	hsa-miR-548x-5p	HITS-CLIP	23824327
MIRT647832	hsa-miR-1468-3p	HITS-CLIP	23824327
MIRT647831	hsa-miR-548aw	HITS-CLIP	23824327
MIRT647830	hsa-miR-518a-5p	HITS-CLIP	23824327
MIRT647829	hsa-miR-527	HITS-CLIP	23824327
MIRT555036	hsa-miR-548p	PAR-CLIP	21572407
MIRT555035	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT555034	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT031846	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT555033	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT555032	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT555031	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT555030	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT555029	hsa-miR-545-3p	PAR-CLIP	21572407
MIRT555028	hsa-miR-5190	PAR-CLIP	21572407
MIRT555027	hsa-miR-4797-3p	PAR-CLIP	21572407
MIRT555026	hsa-miR-4264	PAR-CLIP	21572407
MIRT555025	hsa-miR-4468	PAR-CLIP	21572407
MIRT555024	hsa-miR-7112-3p	PAR-CLIP	21572407
MIRT555023	hsa-miR-4711-5p	PAR-CLIP	21572407
MIRT555022	hsa-miR-4694-5p	PAR-CLIP	21572407
MIRT555021	hsa-miR-597-3p	PAR-CLIP	21572407
MIRT555020	hsa-miR-3152-3p	PAR-CLIP	21572407
MIRT555019	hsa-miR-4276	PAR-CLIP	21572407
MIRT1282872	hsa-miR-1197	CLIP-seq
MIRT1282873	hsa-miR-15a	CLIP-seq
MIRT1282874	hsa-miR-15b	CLIP-seq
MIRT1282875	hsa-miR-16	CLIP-seq
MIRT1282876	hsa-miR-195	CLIP-seq
MIRT1282877	hsa-miR-200b	CLIP-seq
MIRT1282878	hsa-miR-200c	CLIP-seq
MIRT1282879	hsa-miR-217	CLIP-seq
MIRT1282880	hsa-miR-25	CLIP-seq
MIRT1282881	hsa-miR-32	CLIP-seq
MIRT1282882	hsa-miR-323-3p	CLIP-seq
MIRT1282883	hsa-miR-329	CLIP-seq
MIRT1282884	hsa-miR-362-3p	CLIP-seq
MIRT1282885	hsa-miR-363	CLIP-seq
MIRT1282886	hsa-miR-3647-3p	CLIP-seq
MIRT1282887	hsa-miR-3662	CLIP-seq
MIRT1282888	hsa-miR-367	CLIP-seq
MIRT1282889	hsa-miR-3919	CLIP-seq
MIRT1282890	hsa-miR-3925-5p	CLIP-seq
MIRT1282891	hsa-miR-3941	CLIP-seq
MIRT1282892	hsa-miR-3942-3p	CLIP-seq
MIRT1282893	hsa-miR-424	CLIP-seq
MIRT1282894	hsa-miR-4266	CLIP-seq
MIRT1282895	hsa-miR-429	CLIP-seq
MIRT1282896	hsa-miR-4311	CLIP-seq
MIRT1282897	hsa-miR-4328	CLIP-seq
MIRT1282898	hsa-miR-4418	CLIP-seq
MIRT1282899	hsa-miR-4470	CLIP-seq
MIRT1282900	hsa-miR-466	CLIP-seq
MIRT1282901	hsa-miR-4672	CLIP-seq
MIRT1282902	hsa-miR-4699-3p	CLIP-seq
MIRT1282903	hsa-miR-4724-3p	CLIP-seq
MIRT1282904	hsa-miR-4756-3p	CLIP-seq
MIRT1282905	hsa-miR-4797-5p	CLIP-seq
MIRT1282906	hsa-miR-497	CLIP-seq
MIRT1282907	hsa-miR-509-3-5p	CLIP-seq
MIRT1282908	hsa-miR-509-5p	CLIP-seq
MIRT1282909	hsa-miR-545	CLIP-seq
MIRT1282910	hsa-miR-548ac	CLIP-seq
MIRT1282911	hsa-miR-548ae	CLIP-seq
MIRT1282912	hsa-miR-548aj	CLIP-seq
MIRT1282913	hsa-miR-548am	CLIP-seq
MIRT1282914	hsa-miR-548d-3p	CLIP-seq
MIRT1282915	hsa-miR-548x	CLIP-seq
MIRT1282916	hsa-miR-548z	CLIP-seq
MIRT1282917	hsa-miR-579	CLIP-seq
MIRT1282918	hsa-miR-668	CLIP-seq
MIRT1282919	hsa-miR-92a	CLIP-seq
MIRT1282920	hsa-miR-92b	CLIP-seq
MIRT1282921	hsa-miR-1193	CLIP-seq
MIRT1282922	hsa-miR-2392	CLIP-seq
MIRT1282923	hsa-miR-299-5p	CLIP-seq
MIRT1282924	hsa-miR-30a	CLIP-seq
MIRT1282925	hsa-miR-30b	CLIP-seq
MIRT1282926	hsa-miR-30c	CLIP-seq
MIRT1282927	hsa-miR-30d	CLIP-seq
MIRT1282928	hsa-miR-30e	CLIP-seq
MIRT1282929	hsa-miR-3978	CLIP-seq
MIRT1282930	hsa-miR-875-3p	CLIP-seq
MIRT1282921	hsa-miR-1193	CLIP-seq
MIRT2083798	hsa-miR-1207-3p	CLIP-seq
MIRT2083799	hsa-miR-1264	CLIP-seq
MIRT2083800	hsa-miR-1287	CLIP-seq
MIRT2083801	hsa-miR-2277-3p	CLIP-seq
MIRT2083802	hsa-miR-28-5p	CLIP-seq
MIRT2083803	hsa-miR-297	CLIP-seq
MIRT2083804	hsa-miR-299-3p	CLIP-seq
MIRT2083805	hsa-miR-3139	CLIP-seq
MIRT2083806	hsa-miR-3199	CLIP-seq
MIRT2083807	hsa-miR-3660	CLIP-seq
MIRT1282889	hsa-miR-3919	CLIP-seq
MIRT1282892	hsa-miR-3942-3p	CLIP-seq
MIRT1282894	hsa-miR-4266	CLIP-seq
MIRT2083808	hsa-miR-4491	CLIP-seq
MIRT2083809	hsa-miR-450b-5p	CLIP-seq
MIRT2083810	hsa-miR-4513	CLIP-seq
MIRT2083811	hsa-miR-4526	CLIP-seq
MIRT2083812	hsa-miR-4643	CLIP-seq
MIRT2083813	hsa-miR-4648	CLIP-seq
MIRT2083814	hsa-miR-4654	CLIP-seq
MIRT2083815	hsa-miR-4657	CLIP-seq
MIRT2083816	hsa-miR-4740-5p	CLIP-seq
MIRT1282904	hsa-miR-4756-3p	CLIP-seq
MIRT2083817	hsa-miR-4769-5p	CLIP-seq
MIRT2083818	hsa-miR-4775	CLIP-seq
MIRT2083819	hsa-miR-567	CLIP-seq
MIRT2083820	hsa-miR-590-3p	CLIP-seq
MIRT2083821	hsa-miR-629	CLIP-seq
MIRT2083822	hsa-miR-642b	CLIP-seq
MIRT1282918	hsa-miR-668	CLIP-seq
MIRT2083823	hsa-miR-708	CLIP-seq
MIRT2309014	hsa-miR-3692	CLIP-seq
MIRT1282889	hsa-miR-3919	CLIP-seq
MIRT1282892	hsa-miR-3942-3p	CLIP-seq
MIRT2309015	hsa-miR-4257	CLIP-seq
MIRT1282894	hsa-miR-4266	CLIP-seq
MIRT2309016	hsa-miR-4639-3p	CLIP-seq
MIRT1282904	hsa-miR-4756-3p	CLIP-seq
MIRT2083818	hsa-miR-4775	CLIP-seq
MIRT2083820	hsa-miR-590-3p	CLIP-seq
MIRT1282918	hsa-miR-668	CLIP-seq
MIRT2309017	hsa-miR-27a	CLIP-seq
MIRT2309018	hsa-miR-27b	CLIP-seq
MIRT2309019	hsa-miR-4700-3p	CLIP-seq
MIRT2309020	hsa-miR-513a-5p	CLIP-seq
MIRT2393319	hsa-miR-3936	CLIP-seq
MIRT2393320	hsa-miR-488	CLIP-seq
MIRT2393321	hsa-miR-548aa	CLIP-seq
MIRT1282910	hsa-miR-548ac	CLIP-seq
MIRT1282911	hsa-miR-548ae	CLIP-seq
MIRT1282912	hsa-miR-548aj	CLIP-seq
MIRT1282913	hsa-miR-548am	CLIP-seq
MIRT1282914	hsa-miR-548d-3p	CLIP-seq
MIRT1282915	hsa-miR-548x	CLIP-seq
MIRT1282916	hsa-miR-548z	CLIP-seq
MIRT2432393	hsa-miR-330-3p	CLIP-seq
MIRT2083809	hsa-miR-450b-5p	CLIP-seq
MIRT2432394	hsa-miR-507	CLIP-seq
MIRT2432395	hsa-miR-557	CLIP-seq
MIRT2605847	hsa-miR-106a	CLIP-seq
MIRT2605848	hsa-miR-106b	CLIP-seq
MIRT1282921	hsa-miR-1193	CLIP-seq
MIRT2605849	hsa-miR-1284	CLIP-seq
MIRT2605850	hsa-miR-1303	CLIP-seq
MIRT2605851	hsa-miR-154	CLIP-seq
MIRT1282873	hsa-miR-15a	CLIP-seq
MIRT1282874	hsa-miR-15b	CLIP-seq
MIRT1282875	hsa-miR-16	CLIP-seq
MIRT2605852	hsa-miR-17	CLIP-seq
MIRT2605853	hsa-miR-1909	CLIP-seq
MIRT1282876	hsa-miR-195	CLIP-seq
MIRT2605854	hsa-miR-208a	CLIP-seq
MIRT2605855	hsa-miR-208b	CLIP-seq
MIRT2605856	hsa-miR-20a	CLIP-seq
MIRT2605857	hsa-miR-20b	CLIP-seq
MIRT2083801	hsa-miR-2277-3p	CLIP-seq
MIRT1282922	hsa-miR-2392	CLIP-seq
MIRT1282923	hsa-miR-299-5p	CLIP-seq
MIRT2605858	hsa-miR-300	CLIP-seq
MIRT2605859	hsa-miR-302a	CLIP-seq
MIRT2605860	hsa-miR-302b	CLIP-seq
MIRT2605861	hsa-miR-302c	CLIP-seq
MIRT2605862	hsa-miR-302d	CLIP-seq
MIRT2605863	hsa-miR-302e	CLIP-seq
MIRT1282924	hsa-miR-30a	CLIP-seq
MIRT1282925	hsa-miR-30b	CLIP-seq
MIRT1282926	hsa-miR-30c	CLIP-seq
MIRT1282927	hsa-miR-30d	CLIP-seq
MIRT1282928	hsa-miR-30e	CLIP-seq
MIRT2605864	hsa-miR-3163	CLIP-seq
MIRT2605865	hsa-miR-323b-3p	CLIP-seq
MIRT2605866	hsa-miR-340	CLIP-seq
MIRT2605867	hsa-miR-372	CLIP-seq
MIRT2605868	hsa-miR-373	CLIP-seq
MIRT2605869	hsa-miR-380	CLIP-seq
MIRT2605870	hsa-miR-381	CLIP-seq
MIRT1282893	hsa-miR-424	CLIP-seq
MIRT2605871	hsa-miR-4432	CLIP-seq
MIRT2605872	hsa-miR-4495	CLIP-seq
MIRT2605873	hsa-miR-4528	CLIP-seq
MIRT2083812	hsa-miR-4643	CLIP-seq
MIRT2605874	hsa-miR-4666-3p	CLIP-seq
MIRT2605875	hsa-miR-4761-3p	CLIP-seq
MIRT2083818	hsa-miR-4775	CLIP-seq
MIRT1282906	hsa-miR-497	CLIP-seq
MIRT2605876	hsa-miR-499-5p	CLIP-seq
MIRT2605877	hsa-miR-519d	CLIP-seq
MIRT2605878	hsa-miR-520a-3p	CLIP-seq
MIRT2605879	hsa-miR-520b	CLIP-seq
MIRT2605880	hsa-miR-520c-3p	CLIP-seq
MIRT2605881	hsa-miR-520d-3p	CLIP-seq
MIRT2605882	hsa-miR-520e	CLIP-seq
MIRT2605883	hsa-miR-526b	CLIP-seq
MIRT2605884	hsa-miR-539	CLIP-seq
MIRT1282909	hsa-miR-545	CLIP-seq
MIRT2605885	hsa-miR-548n	CLIP-seq
MIRT2605886	hsa-miR-548t	CLIP-seq
MIRT2605887	hsa-miR-580	CLIP-seq
MIRT2083820	hsa-miR-590-3p	CLIP-seq
MIRT2605888	hsa-miR-624	CLIP-seq
MIRT2083822	hsa-miR-642b	CLIP-seq
MIRT2605889	hsa-miR-93	CLIP-seq
MIRT2605847	hsa-miR-106a	CLIP-seq
MIRT2605848	hsa-miR-106b	CLIP-seq
MIRT1282921	hsa-miR-1193	CLIP-seq
MIRT2605849	hsa-miR-1284	CLIP-seq
MIRT2605850	hsa-miR-1303	CLIP-seq
MIRT1282873	hsa-miR-15a	CLIP-seq
MIRT1282874	hsa-miR-15b	CLIP-seq
MIRT1282875	hsa-miR-16	CLIP-seq
MIRT2605852	hsa-miR-17	CLIP-seq
MIRT2605853	hsa-miR-1909	CLIP-seq
MIRT1282876	hsa-miR-195	CLIP-seq
MIRT2605854	hsa-miR-208a	CLIP-seq
MIRT2605855	hsa-miR-208b	CLIP-seq
MIRT2605856	hsa-miR-20a	CLIP-seq
MIRT2605857	hsa-miR-20b	CLIP-seq
MIRT2083801	hsa-miR-2277-3p	CLIP-seq
MIRT1282922	hsa-miR-2392	CLIP-seq
MIRT1282923	hsa-miR-299-5p	CLIP-seq
MIRT2605858	hsa-miR-300	CLIP-seq
MIRT2605859	hsa-miR-302a	CLIP-seq
MIRT2605860	hsa-miR-302b	CLIP-seq
MIRT2605861	hsa-miR-302c	CLIP-seq
MIRT2605862	hsa-miR-302d	CLIP-seq
MIRT2605863	hsa-miR-302e	CLIP-seq
MIRT1282924	hsa-miR-30a	CLIP-seq
MIRT1282925	hsa-miR-30b	CLIP-seq
MIRT1282926	hsa-miR-30c	CLIP-seq
MIRT1282927	hsa-miR-30d	CLIP-seq
MIRT1282928	hsa-miR-30e	CLIP-seq
MIRT2605864	hsa-miR-3163	CLIP-seq
MIRT2605865	hsa-miR-323b-3p	CLIP-seq
MIRT2605866	hsa-miR-340	CLIP-seq
MIRT2605867	hsa-miR-372	CLIP-seq
MIRT2605868	hsa-miR-373	CLIP-seq
MIRT2605869	hsa-miR-380	CLIP-seq
MIRT2605870	hsa-miR-381	CLIP-seq
MIRT1282893	hsa-miR-424	CLIP-seq
MIRT2605871	hsa-miR-4432	CLIP-seq
MIRT2605872	hsa-miR-4495	CLIP-seq
MIRT2083809	hsa-miR-450b-5p	CLIP-seq
MIRT2605873	hsa-miR-4528	CLIP-seq
MIRT2605874	hsa-miR-4666-3p	CLIP-seq
MIRT2605875	hsa-miR-4761-3p	CLIP-seq
MIRT2083818	hsa-miR-4775	CLIP-seq
MIRT1282906	hsa-miR-497	CLIP-seq
MIRT2605876	hsa-miR-499-5p	CLIP-seq
MIRT2432394	hsa-miR-507	CLIP-seq
MIRT2605877	hsa-miR-519d	CLIP-seq
MIRT2605878	hsa-miR-520a-3p	CLIP-seq
MIRT2605879	hsa-miR-520b	CLIP-seq
MIRT2605880	hsa-miR-520c-3p	CLIP-seq
MIRT2605881	hsa-miR-520d-3p	CLIP-seq
MIRT2605882	hsa-miR-520e	CLIP-seq
MIRT2605883	hsa-miR-526b	CLIP-seq
MIRT2605884	hsa-miR-539	CLIP-seq
MIRT1282909	hsa-miR-545	CLIP-seq
MIRT2605885	hsa-miR-548n	CLIP-seq
MIRT2605886	hsa-miR-548t	CLIP-seq
MIRT2432395	hsa-miR-557	CLIP-seq
MIRT2605887	hsa-miR-580	CLIP-seq
MIRT2083820	hsa-miR-590-3p	CLIP-seq
MIRT2605889	hsa-miR-93	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000045	Process	Autophagosome assembly	IBA
GO:0000045	Process	Autophagosome assembly	IMP	22452336
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	17646400, 22365972
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	17646400
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	22365972
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005776	Component	Autophagosome	IBA
GO:0005776	Component	Autophagosome	IDA	22452336
GO:0005776	Component	Autophagosome	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	17646400
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006968	Process	Cellular defense response	IMP	22452336
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0010008	Component	Endosome membrane	IBA
GO:0010008	Component	Endosome membrane	IEA
GO:0012505	Component	Endomembrane system	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042308	Process	Negative regulation of protein import into nucleus	IMP	22365972
GO:0045335	Component	Phagocytic vesicle	IDA	21255211
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0046039	Process	GTP metabolic process	IDA	22365972
GO:0046872	Function	Metal ion binding	IEA
GO:0048731	Process	System development	IEA
GO:0060271	Process	Cilium assembly	IMP	17646400
GO:0097094	Process	Craniofacial suture morphogenesis	IMP	17503333

MIM	HGNC	e!Ensembl
606144	14263	ENSG00000112210

Q9ULC3

Protein name

Ras-related protein Rab-23 (EC 3.6.5.2)

Protein function

The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to r

PDB

8YIM , 8YL3 , 8YNR , 8YO0 , 8YP0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	11 → 171	Ras family	Domain

Sequence

MLEEDMEVAIKMVVVGNGAVGKSSMIQRYCKGIFTKDYKKTIGVDFLERQIQVNDEDVRL
MLWDTAGQEEFDAITKAYYRGAQACVLVFSTTDRESFEAVSSWREKVVAEVGDIPTVLVQ
NKIDLLDDSCIKNEEAEALAKRLKLRFYRTSVKEDLNVNEVFKYLAEKYLQKLKQQIAED
PELTHSSSNKIGVFNTSGGSHSGQNSGTLNGGDVINLRPNKQRTKKNRNPFSSCSIP

Sequence length

237

Interactions

View interactions

	Reactome
			RAB geranylgeranylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Carpenter syndrome	Pathogenic; Likely pathogenic	rs2127998022, rs1049674573, rs2128004184, rs2127997677, rs2127997697, rs2127998544, rs373724159, rs121908171, rs1438138090, rs2533178501, rs2533178301, rs765443042, rs2533178365, rs762512079, rs2533214937 View all (6 more)	RCV001383516 RCV001386671 RCV001382455 RCV001944873 RCV002010246 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clear cell carcinoma of kidney	Pathogenic	rs121908171	RCV005887296	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RAB23-related Carpenter syndrome	Pathogenic; Likely pathogenic	rs2127998616, rs2127997645, rs121908171, rs1438138090, rs765443042, rs1593223800	RCV001580137 RCV001580770 RCV000004853 RCV000004854 RCV000546008 RCV000004855 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RAB23-related disorder	Pathogenic; Likely pathogenic	rs121908171, rs1438138090, rs765443042	RCV003415654 RCV003415655 RCV003930036	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder exstrophy-epispadias-cloacal extrophy complex	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPENTER SYNDROME 1	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (120)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephalopolysyndactyly type 2	Carpenter syndrome	BEFREE	17503333, 20358613, 21412941, 25168863, 29727300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephalopolysyndactyly type 2	Carpenter syndrome	CLINVAR_DG	17503333, 21412941, 24458945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephalopolysyndactyly type 2	Carpenter syndrome	ORPHANET_DG	17503333, 21412941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephalopolysyndactyly type 2	Carpenter syndrome	GENOMICS_ENGLAND_DG	20358613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephalopolysyndactyly type 2	Carpenter syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrocephaly	Acrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25867419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	26897750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	26897750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	16955411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26238143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24447584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17373734, 37884351	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30191377	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20656337, 23007279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25867419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26716504	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29552151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carpenter syndrome	Carpenter Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CARPENTER SYNDROME 1	Carpenter Syndrome	GENOMICS_ENGLAND_DG	17503333, 20358613		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPENTER SYNDROME 1	Carpenter Syndrome	UNIPROT_DG	17503333, 21412941		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPENTER SYNDROME 1	Carpenter Syndrome	CLINVAR_DG	21412941, 23599695		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	31465935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31423247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30390327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronal craniosynostosis	Coronal craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	21412941, 26910679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	17503333, 21082653, 29437519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29727300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	25867419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	25867419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	17660800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular Cyst	Follicular cyst	Pubtator	17660800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	17660800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	27793025		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	24477653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	17503333, 26238143, 31465935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29727300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	23178314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17373734, 23007279, 30191377, 31413665, 31635804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17373734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	29420702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26238143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20656337, 23007279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29552151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25867419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28277196, 30662812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18559507, 29028094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25867419, 27659550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	15129947, 20358613, 21412941, 25168863, 3322002, 3993675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17373734, 26716504, 28277196, 29552151, 30191377, 30390327, 31423247, 31635804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	17503333, 28104793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	17503333	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17503333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	17503333	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29771408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29771408	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29552151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31550546	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25867419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25867419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	17660800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polysplenia	Polysplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28277196, 30662812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30390327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	21540310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	21540310, 29416296	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	28104793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26716504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27659550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	26716504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29028094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18559507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	21412941	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	17660800	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	17660800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32856288	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22724020, 26715272	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	29416296	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

RAB23 (RAB23, member RAS oncogene family)