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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57617
Gene name	VPS18 core subunit of CORVET and HOPS complexes
Gene symbol	VPS18
Synonyms (NCBI Gene)	PEP3
Chromosome	15
Chromosome location	15q15.1
Summary	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuol

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miRTarBase ID	miRNA	Experiments	Reference
MIRT021057	hsa-miR-155-5p	Reporter assay	20584899
MIRT042991	hsa-miR-324-3p	CLASH	23622248
MIRT039983	hsa-miR-615-3p	CLASH	23622248
MIRT724932	hsa-miR-3918	HITS-CLIP	19536157
MIRT724931	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT724930	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT724929	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT724928	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT724927	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT724926	hsa-miR-1307-3p	HITS-CLIP	19536157
MIRT724925	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT724924	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT724923	hsa-miR-663a	HITS-CLIP	19536157
MIRT724922	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT724921	hsa-miR-3180	HITS-CLIP	19536157
MIRT724920	hsa-miR-3180-3p	HITS-CLIP	19536157
MIRT724919	hsa-miR-3196	HITS-CLIP	19536157
MIRT724918	hsa-miR-6816-5p	HITS-CLIP	19536157
MIRT621411	hsa-miR-18a-5p	HITS-CLIP	23824327
MIRT621410	hsa-miR-18b-5p	HITS-CLIP	23824327
MIRT621409	hsa-miR-4735-3p	HITS-CLIP	23824327
MIRT621408	hsa-miR-3615	HITS-CLIP	23824327
MIRT621407	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT621405	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT650799	hsa-miR-6730-5p	HITS-CLIP	23824327
MIRT621406	hsa-miR-3907	HITS-CLIP	23824327
MIRT621404	hsa-miR-516a-5p	HITS-CLIP	23824327
MIRT621403	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT621411	hsa-miR-18a-5p	HITS-CLIP	23824327
MIRT621410	hsa-miR-18b-5p	HITS-CLIP	23824327
MIRT621409	hsa-miR-4735-3p	HITS-CLIP	23824327
MIRT621408	hsa-miR-3615	HITS-CLIP	23824327
MIRT621407	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT621405	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT650799	hsa-miR-6730-5p	HITS-CLIP	23824327
MIRT650800	hsa-miR-7854-3p	HITS-CLIP	23824327
MIRT621406	hsa-miR-3907	HITS-CLIP	23824327
MIRT621404	hsa-miR-516a-5p	HITS-CLIP	23824327
MIRT621403	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT621411	hsa-miR-18a-5p	HITS-CLIP	23824327
MIRT621410	hsa-miR-18b-5p	HITS-CLIP	23824327
MIRT621409	hsa-miR-4735-3p	HITS-CLIP	23824327
MIRT621408	hsa-miR-3615	HITS-CLIP	23824327
MIRT621407	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT621405	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT621406	hsa-miR-3907	HITS-CLIP	23824327
MIRT621404	hsa-miR-516a-5p	HITS-CLIP	23824327
MIRT621403	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT500246	hsa-miR-3159	PAR-CLIP	22012620
MIRT500245	hsa-miR-665	PAR-CLIP	22012620
MIRT500246	hsa-miR-3159	PAR-CLIP	24398324
MIRT500245	hsa-miR-665	PAR-CLIP	24398324
MIRT724932	hsa-miR-3918	HITS-CLIP	19536157
MIRT724931	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT724930	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT724929	hsa-miR-1915-3p	HITS-CLIP	19536157
MIRT724928	hsa-miR-6764-5p	HITS-CLIP	19536157
MIRT724927	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT724926	hsa-miR-1307-3p	HITS-CLIP	19536157
MIRT724925	hsa-miR-744-5p	HITS-CLIP	19536157
MIRT724924	hsa-miR-1908-5p	HITS-CLIP	19536157
MIRT724923	hsa-miR-663a	HITS-CLIP	19536157
MIRT724922	hsa-miR-6787-5p	HITS-CLIP	19536157
MIRT724921	hsa-miR-3180	HITS-CLIP	19536157
MIRT724920	hsa-miR-3180-3p	HITS-CLIP	19536157
MIRT724919	hsa-miR-3196	HITS-CLIP	19536157
MIRT724918	hsa-miR-6816-5p	HITS-CLIP	19536157
MIRT621411	hsa-miR-18a-5p	HITS-CLIP	23824327
MIRT621410	hsa-miR-18b-5p	HITS-CLIP	23824327
MIRT621409	hsa-miR-4735-3p	HITS-CLIP	23824327
MIRT621408	hsa-miR-3615	HITS-CLIP	23824327
MIRT621407	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT621405	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT650799	hsa-miR-6730-5p	HITS-CLIP	23824327
MIRT621406	hsa-miR-3907	HITS-CLIP	23824327
MIRT621404	hsa-miR-516a-5p	HITS-CLIP	23824327
MIRT621403	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT621411	hsa-miR-18a-5p	HITS-CLIP	23824327
MIRT621410	hsa-miR-18b-5p	HITS-CLIP	23824327
MIRT621409	hsa-miR-4735-3p	HITS-CLIP	23824327
MIRT621408	hsa-miR-3615	HITS-CLIP	23824327
MIRT621407	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT621405	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT650799	hsa-miR-6730-5p	HITS-CLIP	23824327
MIRT650800	hsa-miR-7854-3p	HITS-CLIP	23824327
MIRT621406	hsa-miR-3907	HITS-CLIP	23824327
MIRT621404	hsa-miR-516a-5p	HITS-CLIP	23824327
MIRT621403	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT621411	hsa-miR-18a-5p	HITS-CLIP	23824327
MIRT621410	hsa-miR-18b-5p	HITS-CLIP	23824327
MIRT621409	hsa-miR-4735-3p	HITS-CLIP	23824327
MIRT621408	hsa-miR-3615	HITS-CLIP	23824327
MIRT621407	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT621405	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT621406	hsa-miR-3907	HITS-CLIP	23824327
MIRT621404	hsa-miR-516a-5p	HITS-CLIP	23824327
MIRT621403	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT500246	hsa-miR-3159	PAR-CLIP	22012620
MIRT500245	hsa-miR-665	PAR-CLIP	22012620
MIRT500246	hsa-miR-3159	PAR-CLIP	24398324
MIRT500245	hsa-miR-665	PAR-CLIP	24398324
MIRT1486070	hsa-miR-1228	CLIP-seq
MIRT1486071	hsa-miR-1827	CLIP-seq
MIRT1486072	hsa-miR-3135	CLIP-seq
MIRT1486073	hsa-miR-3180-5p	CLIP-seq
MIRT1486074	hsa-miR-342-3p	CLIP-seq
MIRT1486075	hsa-miR-3612	CLIP-seq
MIRT1486076	hsa-miR-3614-3p	CLIP-seq
MIRT1486077	hsa-miR-3622a-3p	CLIP-seq
MIRT1486078	hsa-miR-3622b-3p	CLIP-seq
MIRT1486079	hsa-miR-4266	CLIP-seq
MIRT1486080	hsa-miR-4468	CLIP-seq
MIRT1486081	hsa-miR-4695-5p	CLIP-seq
MIRT1486082	hsa-miR-4779	CLIP-seq
MIRT1486083	hsa-miR-513c	CLIP-seq
MIRT1486084	hsa-miR-514b-5p	CLIP-seq
MIRT1486085	hsa-miR-520a-5p	CLIP-seq
MIRT1486086	hsa-miR-525-5p	CLIP-seq
MIRT1486087	hsa-miR-650	CLIP-seq
MIRT1486088	hsa-miR-759	CLIP-seq
MIRT2146113	hsa-miR-1229	CLIP-seq
MIRT2146114	hsa-miR-1247	CLIP-seq
MIRT2146115	hsa-miR-128	CLIP-seq
MIRT2146116	hsa-miR-1302	CLIP-seq
MIRT1486071	hsa-miR-1827	CLIP-seq
MIRT2146117	hsa-miR-27a	CLIP-seq
MIRT2146118	hsa-miR-27b	CLIP-seq
MIRT1486073	hsa-miR-3180-5p	CLIP-seq
MIRT2146119	hsa-miR-3192	CLIP-seq
MIRT1486075	hsa-miR-3612	CLIP-seq
MIRT1486076	hsa-miR-3614-3p	CLIP-seq
MIRT2146120	hsa-miR-3688-5p	CLIP-seq
MIRT2146121	hsa-miR-3926	CLIP-seq
MIRT2146122	hsa-miR-4298	CLIP-seq
MIRT2146123	hsa-miR-4302	CLIP-seq
MIRT2146124	hsa-miR-4314	CLIP-seq
MIRT2146125	hsa-miR-4438	CLIP-seq
MIRT2146126	hsa-miR-4646-5p	CLIP-seq
MIRT1486081	hsa-miR-4695-5p	CLIP-seq
MIRT2146127	hsa-miR-4696	CLIP-seq
MIRT2146128	hsa-miR-5095	CLIP-seq
MIRT1486083	hsa-miR-513c	CLIP-seq
MIRT1486084	hsa-miR-514b-5p	CLIP-seq
MIRT1486085	hsa-miR-520a-5p	CLIP-seq
MIRT1486086	hsa-miR-525-5p	CLIP-seq
MIRT2146129	hsa-miR-548s	CLIP-seq
MIRT2146130	hsa-miR-644	CLIP-seq
MIRT1486087	hsa-miR-650	CLIP-seq
MIRT1486088	hsa-miR-759	CLIP-seq
MIRT2146131	hsa-miR-940	CLIP-seq
MIRT2366625	hsa-miR-1207-5p	CLIP-seq
MIRT1486070	hsa-miR-1228	CLIP-seq
MIRT2146114	hsa-miR-1247	CLIP-seq
MIRT2146115	hsa-miR-128	CLIP-seq
MIRT1486071	hsa-miR-1827	CLIP-seq
MIRT2366626	hsa-miR-1909	CLIP-seq
MIRT2146117	hsa-miR-27a	CLIP-seq
MIRT2146118	hsa-miR-27b	CLIP-seq
MIRT1486074	hsa-miR-342-3p	CLIP-seq
MIRT1486077	hsa-miR-3622a-3p	CLIP-seq
MIRT1486078	hsa-miR-3622b-3p	CLIP-seq
MIRT2146120	hsa-miR-3688-5p	CLIP-seq
MIRT2146121	hsa-miR-3926	CLIP-seq
MIRT2146123	hsa-miR-4302	CLIP-seq
MIRT2366627	hsa-miR-4317	CLIP-seq
MIRT2366628	hsa-miR-4763-3p	CLIP-seq
MIRT2146129	hsa-miR-548s	CLIP-seq
MIRT2146130	hsa-miR-644	CLIP-seq
MIRT2146131	hsa-miR-940	CLIP-seq
MIRT2146114	hsa-miR-1247	CLIP-seq
MIRT2146115	hsa-miR-128	CLIP-seq
MIRT2146117	hsa-miR-27a	CLIP-seq
MIRT2146118	hsa-miR-27b	CLIP-seq
MIRT2146120	hsa-miR-3688-5p	CLIP-seq
MIRT2146123	hsa-miR-4302	CLIP-seq
MIRT2146130	hsa-miR-644	CLIP-seq
MIRT2660160	hsa-miR-1184	CLIP-seq
MIRT2366625	hsa-miR-1207-5p	CLIP-seq
MIRT2146114	hsa-miR-1247	CLIP-seq
MIRT2660161	hsa-miR-125a-3p	CLIP-seq
MIRT2146115	hsa-miR-128	CLIP-seq
MIRT2660162	hsa-miR-1301	CLIP-seq
MIRT1486071	hsa-miR-1827	CLIP-seq
MIRT2366626	hsa-miR-1909	CLIP-seq
MIRT2146117	hsa-miR-27a	CLIP-seq
MIRT2146118	hsa-miR-27b	CLIP-seq
MIRT2660163	hsa-miR-3128	CLIP-seq
MIRT1486072	hsa-miR-3135	CLIP-seq
MIRT2660164	hsa-miR-3136-5p	CLIP-seq
MIRT2660165	hsa-miR-3179	CLIP-seq
MIRT2660166	hsa-miR-3185	CLIP-seq
MIRT2146119	hsa-miR-3192	CLIP-seq
MIRT2660167	hsa-miR-345	CLIP-seq
MIRT1486075	hsa-miR-3612	CLIP-seq
MIRT1486076	hsa-miR-3614-3p	CLIP-seq
MIRT2146120	hsa-miR-3688-5p	CLIP-seq
MIRT2660168	hsa-miR-3689a-3p	CLIP-seq
MIRT2660169	hsa-miR-3689c	CLIP-seq
MIRT2660170	hsa-miR-3925-3p	CLIP-seq
MIRT2146121	hsa-miR-3926	CLIP-seq
MIRT2660171	hsa-miR-3929	CLIP-seq
MIRT2660172	hsa-miR-4252	CLIP-seq
MIRT2660173	hsa-miR-4256	CLIP-seq
MIRT1486079	hsa-miR-4266	CLIP-seq
MIRT2146123	hsa-miR-4302	CLIP-seq
MIRT2660174	hsa-miR-4418	CLIP-seq
MIRT2660175	hsa-miR-4419b	CLIP-seq
MIRT2660176	hsa-miR-4439	CLIP-seq
MIRT1486080	hsa-miR-4468	CLIP-seq
MIRT2660177	hsa-miR-4478	CLIP-seq
MIRT2660178	hsa-miR-4512	CLIP-seq
MIRT2660179	hsa-miR-4513	CLIP-seq
MIRT2660180	hsa-miR-4527	CLIP-seq
MIRT2660181	hsa-miR-4651	CLIP-seq
MIRT2660182	hsa-miR-4660	CLIP-seq
MIRT1486081	hsa-miR-4695-5p	CLIP-seq
MIRT2146127	hsa-miR-4696	CLIP-seq
MIRT2660183	hsa-miR-4720-5p	CLIP-seq
MIRT2660184	hsa-miR-4728-5p	CLIP-seq
MIRT2660185	hsa-miR-4757-5p	CLIP-seq
MIRT2660186	hsa-miR-4762-3p	CLIP-seq
MIRT2366628	hsa-miR-4763-3p	CLIP-seq
MIRT1486082	hsa-miR-4779	CLIP-seq
MIRT2660187	hsa-miR-4799-3p	CLIP-seq
MIRT2660188	hsa-miR-498	CLIP-seq
MIRT2660189	hsa-miR-5047	CLIP-seq
MIRT2660190	hsa-miR-509-3-5p	CLIP-seq
MIRT2660191	hsa-miR-509-5p	CLIP-seq
MIRT1486083	hsa-miR-513c	CLIP-seq
MIRT1486084	hsa-miR-514b-5p	CLIP-seq
MIRT2660192	hsa-miR-515-5p	CLIP-seq
MIRT2146129	hsa-miR-548s	CLIP-seq
MIRT2660193	hsa-miR-608	CLIP-seq
MIRT2660194	hsa-miR-617	CLIP-seq
MIRT2146130	hsa-miR-644	CLIP-seq
MIRT1486087	hsa-miR-650	CLIP-seq
MIRT2660195	hsa-miR-766	CLIP-seq
MIRT2146131	hsa-miR-940	CLIP-seq
MIRT2366625	hsa-miR-1207-5p	CLIP-seq
MIRT2146114	hsa-miR-1247	CLIP-seq
MIRT2660161	hsa-miR-125a-3p	CLIP-seq
MIRT2146115	hsa-miR-128	CLIP-seq
MIRT1486071	hsa-miR-1827	CLIP-seq
MIRT2366626	hsa-miR-1909	CLIP-seq
MIRT2146117	hsa-miR-27a	CLIP-seq
MIRT2146118	hsa-miR-27b	CLIP-seq
MIRT1486072	hsa-miR-3135	CLIP-seq
MIRT2660164	hsa-miR-3136-5p	CLIP-seq
MIRT2660165	hsa-miR-3179	CLIP-seq
MIRT2146119	hsa-miR-3192	CLIP-seq
MIRT2660167	hsa-miR-345	CLIP-seq
MIRT1486075	hsa-miR-3612	CLIP-seq
MIRT1486076	hsa-miR-3614-3p	CLIP-seq
MIRT2146120	hsa-miR-3688-5p	CLIP-seq
MIRT2660168	hsa-miR-3689a-3p	CLIP-seq
MIRT2660169	hsa-miR-3689c	CLIP-seq
MIRT2660170	hsa-miR-3925-3p	CLIP-seq
MIRT2146121	hsa-miR-3926	CLIP-seq
MIRT2660171	hsa-miR-3929	CLIP-seq
MIRT2660173	hsa-miR-4256	CLIP-seq
MIRT1486079	hsa-miR-4266	CLIP-seq
MIRT2146123	hsa-miR-4302	CLIP-seq
MIRT2660175	hsa-miR-4419b	CLIP-seq
MIRT2660176	hsa-miR-4439	CLIP-seq
MIRT1486080	hsa-miR-4468	CLIP-seq
MIRT2660177	hsa-miR-4478	CLIP-seq
MIRT2660178	hsa-miR-4512	CLIP-seq
MIRT2660179	hsa-miR-4513	CLIP-seq
MIRT2660181	hsa-miR-4651	CLIP-seq
MIRT1486081	hsa-miR-4695-5p	CLIP-seq
MIRT2146127	hsa-miR-4696	CLIP-seq
MIRT2660184	hsa-miR-4728-5p	CLIP-seq
MIRT2660185	hsa-miR-4757-5p	CLIP-seq
MIRT2660186	hsa-miR-4762-3p	CLIP-seq
MIRT2366628	hsa-miR-4763-3p	CLIP-seq
MIRT1486082	hsa-miR-4779	CLIP-seq
MIRT1486083	hsa-miR-513c	CLIP-seq
MIRT1486084	hsa-miR-514b-5p	CLIP-seq
MIRT2660192	hsa-miR-515-5p	CLIP-seq
MIRT2146129	hsa-miR-548s	CLIP-seq
MIRT2660193	hsa-miR-608	CLIP-seq
MIRT2660194	hsa-miR-617	CLIP-seq
MIRT2146130	hsa-miR-644	CLIP-seq
MIRT1486087	hsa-miR-650	CLIP-seq
MIRT2660195	hsa-miR-766	CLIP-seq
MIRT2146131	hsa-miR-940	CLIP-seq

Show/Hide all (54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	11382755, 20434987, 23434281, 23901104, 23918659, 24554770, 25783203, 26496610, 28325809, 28514442, 33422265, 33961781, 35271311
GO:0005764	Component	Lysosome	IDA	11382755, 21802320
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005770	Component	Late endosome	IDA	11382755
GO:0005776	Component	Autophagosome	IEA
GO:0005884	Component	Actin filament	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006904	Process	Vesicle docking involved in exocytosis	IBA
GO:0006914	Process	Autophagy	IEA
GO:0007032	Process	Endosome organization	IBA
GO:0007032	Process	Endosome organization	IDA	18799622
GO:0007032	Process	Endosome organization	IEA
GO:0007040	Process	Lysosome organization	IBA
GO:0007040	Process	Lysosome organization	IDA	18799622
GO:0008270	Function	Zinc ion binding	IEA
GO:0008333	Process	Endosome to lysosome transport	IBA
GO:0008333	Process	Endosome to lysosome transport	IMP	25783203
GO:0010008	Component	Endosome membrane	TAS
GO:0012505	Component	Endomembrane system	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016567	Process	Protein ubiquitination	IMP	31015428
GO:0019905	Function	Syntaxin binding	IDA	11382755
GO:0030123	Component	AP-3 adaptor complex	IEA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0030897	Component	HOPS complex	IBA
GO:0030897	Component	HOPS complex	IDA	19109425, 23901104, 24554770, 37821429
GO:0030897	Component	HOPS complex	NAS	24554770
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0033147	Process	Negative regulation of intracellular estrogen receptor signaling pathway	IGI	31015428
GO:0033263	Component	CORVET complex	IEA
GO:0033263	Component	CORVET complex	NAS	31092635
GO:0034058	Process	Endosomal vesicle fusion	NAS	24554770, 31092635
GO:0035542	Process	Regulation of SNARE complex assembly	NAS	24554770, 31092635
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048284	Process	Organelle fusion	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	31015428
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	EXP	17027648
GO:0098978	Component	Glutamatergic synapse	IDA	17027648
GO:0098978	Component	Glutamatergic synapse	IMP	17027648
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	EXP	17027648
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IDA	17027648
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IMP	17027648

MIM	HGNC	e!Ensembl
608551	15972	ENSG00000104142

Q9P253

Protein name

Vacuolar protein sorting-associated protein 18 homolog (hVPS18)

Protein function

Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05131	Pep3_Vps18	291 → 435	Pep3/Vps18/deep orange family	Family
PF00637	Clathrin	620 → 771	Region in Clathrin and VPS	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Expression was highest in heart and low in lung. {ECO:0000269|PubMed:11382755}.

Sequence

MASILDEYENSLSRSAVLQPGCPSVGIPHSGYVNAQLEKEVPIFTKQRIDFTPSERITSL
VVSSNQLCMSLGKDTLLRIDLGKANEPNHVELGRKDDAKVHKMFLDHTGSHLLIALSSTE
VLYVNRNGQKVRPLARWKGQLVESVGWNKALGTESSTGPILVGTAQGHIFEAELSASEGG
LFGPAPDLYFRPLYVLNEEGGPAPVCSLEAERGPDGRSFVIATTRQRLFQFIGRAAEGAE
AQGFSGLFAAYTDHPPPFREFPSNLGYSELAFYTPKLRSAPRAFAWMMGDGVLYGALDCG
RPDSLLSEERVWEYPEGVGPGASPPLAIVLTQFHFLLLLADRVEAVCTLTGQVVLRDHFL
EKFGPLKHMVKDSSTGQLWAYTERAVFRYHVQREARDVWRTYLDMNRFDLAKEYCRERPD
CLDTVLAREADFCFRQRRYLESARCYALTQSYFEEIALKFLEARQEEALAEFLQRKLASL
KPAERTQATLLTTWLTELYLSRLGALQGDPEALTLYRETKECFRTFLSSPRHKEWLFASR
ASIHELLASHGDTEHMVYFAVIMQDYERVVAYHCQHEAYEEALAVLARHRDPQLFYKFSP
ILIRHIPRQLVDAWIEMGSRLDARQLIPALVNYSQGGEVQQVSQAIRYMEFCVNVLGETE
QAIHNYLLSLYARGRPDSLLAYLEQAGASPHRVHYDLKYALRLCAEHGHHRACVHVYKVL
ELYEEAVDLALQVDVDLAKQCADLPEEDEELRKKLWLKIARHVVQEEEDVQTAMACLASC
PLLKIEDVLPFFPDFVTIDHFKEAICSSLKAYNHHIQELQREMEEATASAQRIRRDLQEL
RGRYGTVEPQDKCATCDFPLLNRPFYLFLCGHMFHADCLLQAVRPGLPAYKQARLEELQR
KLGAAPPPAKGSARAKEAEGGAATAGPSREQLKADLDELVAAECVYCGELMIRSIDRPFI
DPQRYEEEQLSWL

Sequence length

973

Interactions

View interactions

	KEGG
	Autophagy - animal Efferocytosis Salmonella infection

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 Unknown Diseases (8)

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	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30542942	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28919764	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30108970	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	17341467	★★★★★ ★☆☆☆☆ Found in Text Mining only

VPS18 (VPS18 core subunit of CORVET and HOPS complexes)