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	55737
Gene name	VPS35 retromer complex component
Gene symbol	VPS35
Synonyms (NCBI Gene)	MEM3PARK17
Chromosome	16
Chromosome location	16q11.2
Summary	This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. Th

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SNP ID	Visualize variation	Clinical significance	Consequence
rs188286943	C>T	Pathogenic	Missense variant, coding sequence variant
rs797044948	T>C	Likely-pathogenic	Coding sequence variant, missense variant

293

Show/Hide all (293)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016199	hsa-miR-590-3p	Sequencing	20371350
MIRT028711	hsa-miR-27a-3p	Sequencing	20371350
MIRT030421	hsa-miR-24-3p	Microarray	19748357
MIRT046485	hsa-miR-15b-5p	CLASH	23622248
MIRT043692	hsa-miR-342-3p	CLASH	23622248
MIRT464134	hsa-miR-499a-3p	PAR-CLIP	23592263
MIRT464133	hsa-miR-499b-3p	PAR-CLIP	23592263
MIRT464132	hsa-miR-5680	PAR-CLIP	23592263
MIRT464130	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT464131	hsa-miR-3153	PAR-CLIP	23592263
MIRT464129	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT464128	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT464127	hsa-miR-302f	PAR-CLIP	23592263
MIRT464126	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT464125	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT464124	hsa-miR-940	PAR-CLIP	23592263
MIRT464123	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT464122	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT464121	hsa-miR-4667-5p	PAR-CLIP	23592263
MIRT464120	hsa-miR-4700-5p	PAR-CLIP	23592263
MIRT464119	hsa-miR-8089	PAR-CLIP	23592263
MIRT464118	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT464117	hsa-miR-1827	PAR-CLIP	23592263
MIRT464116	hsa-miR-6087	PAR-CLIP	23592263
MIRT464115	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT464114	hsa-miR-658	PAR-CLIP	23592263
MIRT464113	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT464112	hsa-miR-3175	PAR-CLIP	23592263
MIRT464111	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT464110	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT464109	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT464108	hsa-miR-7158-3p	PAR-CLIP	23592263
MIRT464107	hsa-miR-203b-3p	PAR-CLIP	23592263
MIRT464106	hsa-miR-1273e	PAR-CLIP	23592263
MIRT464105	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT464104	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT464103	hsa-miR-4459	PAR-CLIP	23592263
MIRT464134	hsa-miR-499a-3p	PAR-CLIP	23592263
MIRT464133	hsa-miR-499b-3p	PAR-CLIP	23592263
MIRT464132	hsa-miR-5680	PAR-CLIP	23592263
MIRT464130	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT464131	hsa-miR-3153	PAR-CLIP	23592263
MIRT464129	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT464128	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT464127	hsa-miR-302f	PAR-CLIP	23592263
MIRT464126	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT464125	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT464124	hsa-miR-940	PAR-CLIP	23592263
MIRT464123	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT464122	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT464121	hsa-miR-4667-5p	PAR-CLIP	23592263
MIRT464120	hsa-miR-4700-5p	PAR-CLIP	23592263
MIRT464119	hsa-miR-8089	PAR-CLIP	23592263
MIRT464118	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT464117	hsa-miR-1827	PAR-CLIP	23592263
MIRT464116	hsa-miR-6087	PAR-CLIP	23592263
MIRT464115	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT464114	hsa-miR-658	PAR-CLIP	23592263
MIRT464113	hsa-miR-25-5p	PAR-CLIP	23592263
MIRT464112	hsa-miR-3175	PAR-CLIP	23592263
MIRT464111	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT464110	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT464109	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT464108	hsa-miR-7158-3p	PAR-CLIP	23592263
MIRT464107	hsa-miR-203b-3p	PAR-CLIP	23592263
MIRT464106	hsa-miR-1273e	PAR-CLIP	23592263
MIRT464105	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT464104	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT464103	hsa-miR-4459	PAR-CLIP	23592263
MIRT1486537	hsa-miR-124	CLIP-seq
MIRT1486538	hsa-miR-1243	CLIP-seq
MIRT1486539	hsa-miR-1278	CLIP-seq
MIRT1486540	hsa-miR-198	CLIP-seq
MIRT1486541	hsa-miR-2355-5p	CLIP-seq
MIRT1486542	hsa-miR-23a	CLIP-seq
MIRT1486543	hsa-miR-23b	CLIP-seq
MIRT1486544	hsa-miR-23c	CLIP-seq
MIRT1486545	hsa-miR-3065-5p	CLIP-seq
MIRT1486546	hsa-miR-3074-5p	CLIP-seq
MIRT1486547	hsa-miR-3140-3p	CLIP-seq
MIRT1486548	hsa-miR-3161	CLIP-seq
MIRT1486549	hsa-miR-3185	CLIP-seq
MIRT1486550	hsa-miR-3202	CLIP-seq
MIRT1486551	hsa-miR-3613-3p	CLIP-seq
MIRT1486552	hsa-miR-3688-3p	CLIP-seq
MIRT1486553	hsa-miR-370	CLIP-seq
MIRT1486554	hsa-miR-3940-5p	CLIP-seq
MIRT1486555	hsa-miR-3974	CLIP-seq
MIRT1486556	hsa-miR-4457	CLIP-seq
MIRT1486557	hsa-miR-4477a	CLIP-seq
MIRT1486558	hsa-miR-4507	CLIP-seq
MIRT1486559	hsa-miR-4533	CLIP-seq
MIRT1486560	hsa-miR-4731-3p	CLIP-seq
MIRT1486561	hsa-miR-4762-3p	CLIP-seq
MIRT1486562	hsa-miR-4764-5p	CLIP-seq
MIRT1486563	hsa-miR-4766-5p	CLIP-seq
MIRT1486564	hsa-miR-4775	CLIP-seq
MIRT1486565	hsa-miR-4801	CLIP-seq
MIRT1486566	hsa-miR-488	CLIP-seq
MIRT1486567	hsa-miR-495	CLIP-seq
MIRT1486568	hsa-miR-506	CLIP-seq
MIRT1486569	hsa-miR-513b	CLIP-seq
MIRT1486570	hsa-miR-520a-5p	CLIP-seq
MIRT1486571	hsa-miR-525-5p	CLIP-seq
MIRT1486572	hsa-miR-548aa	CLIP-seq
MIRT1486573	hsa-miR-548an	CLIP-seq
MIRT1486574	hsa-miR-548c-3p	CLIP-seq
MIRT1486575	hsa-miR-586	CLIP-seq
MIRT1555549	hsa-miR-2909	CLIP-seq
MIRT1555550	hsa-miR-4278	CLIP-seq
MIRT1486537	hsa-miR-124	CLIP-seq
MIRT2146319	hsa-miR-342-5p	CLIP-seq
MIRT1486552	hsa-miR-3688-3p	CLIP-seq
MIRT2146320	hsa-miR-371-5p	CLIP-seq
MIRT2146321	hsa-miR-371b-5p	CLIP-seq
MIRT2146322	hsa-miR-383	CLIP-seq
MIRT1486555	hsa-miR-3974	CLIP-seq
MIRT2146323	hsa-miR-4310	CLIP-seq
MIRT1486557	hsa-miR-4477a	CLIP-seq
MIRT2146324	hsa-miR-4651	CLIP-seq
MIRT2146325	hsa-miR-4664-5p	CLIP-seq
MIRT1486561	hsa-miR-4762-3p	CLIP-seq
MIRT1486563	hsa-miR-4766-5p	CLIP-seq
MIRT2146326	hsa-miR-4772-5p	CLIP-seq
MIRT1486564	hsa-miR-4775	CLIP-seq
MIRT2146327	hsa-miR-4777-3p	CLIP-seq
MIRT1486566	hsa-miR-488	CLIP-seq
MIRT2146328	hsa-miR-493	CLIP-seq
MIRT1486568	hsa-miR-506	CLIP-seq
MIRT1486573	hsa-miR-548an	CLIP-seq
MIRT2146329	hsa-miR-548u	CLIP-seq
MIRT1486575	hsa-miR-586	CLIP-seq
MIRT2146330	hsa-miR-608	CLIP-seq
MIRT1486537	hsa-miR-124	CLIP-seq
MIRT1486539	hsa-miR-1278	CLIP-seq
MIRT1486541	hsa-miR-2355-5p	CLIP-seq
MIRT1486546	hsa-miR-3074-5p	CLIP-seq
MIRT1486547	hsa-miR-3140-3p	CLIP-seq
MIRT2366787	hsa-miR-3170	CLIP-seq
MIRT1486549	hsa-miR-3185	CLIP-seq
MIRT2146319	hsa-miR-342-5p	CLIP-seq
MIRT2366788	hsa-miR-3678-3p	CLIP-seq
MIRT1486552	hsa-miR-3688-3p	CLIP-seq
MIRT1486553	hsa-miR-370	CLIP-seq
MIRT2146322	hsa-miR-383	CLIP-seq
MIRT1486554	hsa-miR-3940-5p	CLIP-seq
MIRT1486555	hsa-miR-3974	CLIP-seq
MIRT2146323	hsa-miR-4310	CLIP-seq
MIRT1486557	hsa-miR-4477a	CLIP-seq
MIRT1486558	hsa-miR-4507	CLIP-seq
MIRT2146324	hsa-miR-4651	CLIP-seq
MIRT2366789	hsa-miR-4662a-5p	CLIP-seq
MIRT2146325	hsa-miR-4664-5p	CLIP-seq
MIRT2366790	hsa-miR-4704-3p	CLIP-seq
MIRT1486560	hsa-miR-4731-3p	CLIP-seq
MIRT1486561	hsa-miR-4762-3p	CLIP-seq
MIRT1486563	hsa-miR-4766-5p	CLIP-seq
MIRT2146326	hsa-miR-4772-5p	CLIP-seq
MIRT1486564	hsa-miR-4775	CLIP-seq
MIRT2146327	hsa-miR-4777-3p	CLIP-seq
MIRT1486565	hsa-miR-4801	CLIP-seq
MIRT1486566	hsa-miR-488	CLIP-seq
MIRT2146328	hsa-miR-493	CLIP-seq
MIRT1486568	hsa-miR-506	CLIP-seq
MIRT2366791	hsa-miR-513a-3p	CLIP-seq
MIRT1486572	hsa-miR-548aa	CLIP-seq
MIRT1486573	hsa-miR-548an	CLIP-seq
MIRT2146329	hsa-miR-548u	CLIP-seq
MIRT1486575	hsa-miR-586	CLIP-seq
MIRT2146330	hsa-miR-608	CLIP-seq
MIRT2366792	hsa-miR-890	CLIP-seq
MIRT2660438	hsa-miR-101	CLIP-seq
MIRT1486539	hsa-miR-1278	CLIP-seq
MIRT2660439	hsa-miR-144	CLIP-seq
MIRT2660440	hsa-miR-2113	CLIP-seq
MIRT2660441	hsa-miR-216a	CLIP-seq
MIRT2660442	hsa-miR-216b	CLIP-seq
MIRT1486541	hsa-miR-2355-5p	CLIP-seq
MIRT1486542	hsa-miR-23a	CLIP-seq
MIRT1486543	hsa-miR-23b	CLIP-seq
MIRT1486544	hsa-miR-23c	CLIP-seq
MIRT1555549	hsa-miR-2909	CLIP-seq
MIRT2660443	hsa-miR-302a	CLIP-seq
MIRT2660444	hsa-miR-302b	CLIP-seq
MIRT2660445	hsa-miR-302c	CLIP-seq
MIRT2660446	hsa-miR-302d	CLIP-seq
MIRT2660447	hsa-miR-302e	CLIP-seq
MIRT1486545	hsa-miR-3065-5p	CLIP-seq
MIRT1486547	hsa-miR-3140-3p	CLIP-seq
MIRT1486549	hsa-miR-3185	CLIP-seq
MIRT1486551	hsa-miR-3613-3p	CLIP-seq
MIRT2660448	hsa-miR-3654	CLIP-seq
MIRT2146320	hsa-miR-371-5p	CLIP-seq
MIRT2146321	hsa-miR-371b-5p	CLIP-seq
MIRT2660449	hsa-miR-372	CLIP-seq
MIRT2660450	hsa-miR-373	CLIP-seq
MIRT2660451	hsa-miR-378	CLIP-seq
MIRT2660452	hsa-miR-378b	CLIP-seq
MIRT2660453	hsa-miR-378c	CLIP-seq
MIRT2660454	hsa-miR-378d	CLIP-seq
MIRT2660455	hsa-miR-378e	CLIP-seq
MIRT2660456	hsa-miR-378f	CLIP-seq
MIRT2660457	hsa-miR-378h	CLIP-seq
MIRT2660458	hsa-miR-378i	CLIP-seq
MIRT1486554	hsa-miR-3940-5p	CLIP-seq
MIRT2660459	hsa-miR-3941	CLIP-seq
MIRT2660460	hsa-miR-422a	CLIP-seq
MIRT2660461	hsa-miR-4265	CLIP-seq
MIRT1555550	hsa-miR-4278	CLIP-seq
MIRT2660462	hsa-miR-4296	CLIP-seq
MIRT2660463	hsa-miR-4322	CLIP-seq
MIRT2660464	hsa-miR-4428	CLIP-seq
MIRT1486556	hsa-miR-4457	CLIP-seq
MIRT1486558	hsa-miR-4507	CLIP-seq
MIRT2660465	hsa-miR-4643	CLIP-seq
MIRT2660466	hsa-miR-4659a-3p	CLIP-seq
MIRT2660467	hsa-miR-4659b-3p	CLIP-seq
MIRT2660468	hsa-miR-466	CLIP-seq
MIRT2366789	hsa-miR-4662a-5p	CLIP-seq
MIRT2660469	hsa-miR-4672	CLIP-seq
MIRT2660470	hsa-miR-4717-3p	CLIP-seq
MIRT1486560	hsa-miR-4731-3p	CLIP-seq
MIRT2660471	hsa-miR-4789-3p	CLIP-seq
MIRT2660472	hsa-miR-4799-5p	CLIP-seq
MIRT1486565	hsa-miR-4801	CLIP-seq
MIRT1486567	hsa-miR-495	CLIP-seq
MIRT1486569	hsa-miR-513b	CLIP-seq
MIRT2660473	hsa-miR-519a	CLIP-seq
MIRT2660474	hsa-miR-519b-3p	CLIP-seq
MIRT2660475	hsa-miR-519c-3p	CLIP-seq
MIRT2660476	hsa-miR-520a-3p	CLIP-seq
MIRT2660477	hsa-miR-520b	CLIP-seq
MIRT2660478	hsa-miR-520c-3p	CLIP-seq
MIRT2660479	hsa-miR-520d-3p	CLIP-seq
MIRT2660480	hsa-miR-520e	CLIP-seq
MIRT2660481	hsa-miR-520f	CLIP-seq
MIRT2660482	hsa-miR-599	CLIP-seq
MIRT2660483	hsa-miR-629	CLIP-seq
MIRT2660484	hsa-miR-636	CLIP-seq
MIRT2660438	hsa-miR-101	CLIP-seq
MIRT1486539	hsa-miR-1278	CLIP-seq
MIRT2660439	hsa-miR-144	CLIP-seq
MIRT2660441	hsa-miR-216a	CLIP-seq
MIRT2660442	hsa-miR-216b	CLIP-seq
MIRT1486541	hsa-miR-2355-5p	CLIP-seq
MIRT1486542	hsa-miR-23a	CLIP-seq
MIRT1486543	hsa-miR-23b	CLIP-seq
MIRT1486544	hsa-miR-23c	CLIP-seq
MIRT1555549	hsa-miR-2909	CLIP-seq
MIRT2660443	hsa-miR-302a	CLIP-seq
MIRT2660444	hsa-miR-302b	CLIP-seq
MIRT2660445	hsa-miR-302c	CLIP-seq
MIRT2660446	hsa-miR-302d	CLIP-seq
MIRT2660447	hsa-miR-302e	CLIP-seq
MIRT1486545	hsa-miR-3065-5p	CLIP-seq
MIRT1486547	hsa-miR-3140-3p	CLIP-seq
MIRT1486549	hsa-miR-3185	CLIP-seq
MIRT1486551	hsa-miR-3613-3p	CLIP-seq
MIRT2146320	hsa-miR-371-5p	CLIP-seq
MIRT2146321	hsa-miR-371b-5p	CLIP-seq
MIRT2660449	hsa-miR-372	CLIP-seq
MIRT2660450	hsa-miR-373	CLIP-seq
MIRT1486554	hsa-miR-3940-5p	CLIP-seq
MIRT2660459	hsa-miR-3941	CLIP-seq
MIRT2660461	hsa-miR-4265	CLIP-seq
MIRT1555550	hsa-miR-4278	CLIP-seq
MIRT2660462	hsa-miR-4296	CLIP-seq
MIRT2660463	hsa-miR-4322	CLIP-seq
MIRT2660464	hsa-miR-4428	CLIP-seq
MIRT1486558	hsa-miR-4507	CLIP-seq
MIRT2660465	hsa-miR-4643	CLIP-seq
MIRT2660466	hsa-miR-4659a-3p	CLIP-seq
MIRT2660467	hsa-miR-4659b-3p	CLIP-seq
MIRT2660468	hsa-miR-466	CLIP-seq
MIRT2366789	hsa-miR-4662a-5p	CLIP-seq
MIRT2660469	hsa-miR-4672	CLIP-seq
MIRT2660470	hsa-miR-4717-3p	CLIP-seq
MIRT1486560	hsa-miR-4731-3p	CLIP-seq
MIRT2660471	hsa-miR-4789-3p	CLIP-seq
MIRT2660472	hsa-miR-4799-5p	CLIP-seq
MIRT1486565	hsa-miR-4801	CLIP-seq
MIRT1486567	hsa-miR-495	CLIP-seq
MIRT2660473	hsa-miR-519a	CLIP-seq
MIRT2660474	hsa-miR-519b-3p	CLIP-seq
MIRT2660475	hsa-miR-519c-3p	CLIP-seq
MIRT2660476	hsa-miR-520a-3p	CLIP-seq
MIRT2660477	hsa-miR-520b	CLIP-seq
MIRT2660478	hsa-miR-520c-3p	CLIP-seq
MIRT2660479	hsa-miR-520d-3p	CLIP-seq
MIRT2660480	hsa-miR-520e	CLIP-seq
MIRT2660481	hsa-miR-520f	CLIP-seq
MIRT2660483	hsa-miR-629	CLIP-seq
MIRT2660484	hsa-miR-636	CLIP-seq

Show/Hide all (92)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11102511, 15078903, 16732284, 17616579, 17891154, 18160348, 19553991, 19619496, 20923837, 21725319, 22719997, 23331060, 23452853, 24152121, 24344282, 24747528, 24980502, 25278552, 25416956, 25502805, 26496610, 26618722, 27385586, 27460146, 28514442, 28892079, 30213940, 31515488, 322
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	26618722
GO:0005764	Component	Lysosome	IDA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IDA	15078903, 28892079
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	18160348, 20164305, 27385586
GO:0005769	Component	Early endosome	IEA
GO:0005770	Component	Late endosome	IBA
GO:0005770	Component	Late endosome	IEA
GO:0005829	Component	Cytosol	IDA	11102511
GO:0005829	Component	Cytosol	TAS
GO:0006886	Process	Intracellular protein transport	IBA
GO:0007040	Process	Lysosome organization	IEA
GO:0009967	Process	Positive regulation of signal transduction	IEA
GO:0010008	Component	Endosome membrane	IDA	27385586
GO:0010628	Process	Positive regulation of gene expression	IDA	26618722
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010821	Process	Regulation of mitochondrion organization	IGI	26618722
GO:0014069	Component	Postsynaptic density	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	NAS	24115276
GO:0016241	Process	Regulation of macroautophagy	TAS	26172538
GO:0030904	Component	Retromer complex	IBA
GO:0030904	Component	Retromer complex	IDA	11102511, 28892079
GO:0030904	Component	Retromer complex	IEA
GO:0030904	Component	Retromer complex	NAS	18193037
GO:0030904	Component	Retromer complex	TAS	17239604, 24115276
GO:0030906	Component	Retromer, cargo-selective complex	IDA	20164305, 27385586
GO:0030906	Component	Retromer, cargo-selective complex	IEA
GO:0030906	Component	Retromer, cargo-selective complex	NAS	26220253
GO:0031647	Process	Regulation of protein stability	IEA
GO:0031647	Process	Regulation of protein stability	IMP	18193037
GO:0031648	Process	Protein destabilization	IEA
GO:0031748	Function	D1 dopamine receptor binding	IEA
GO:0031748	Function	D1 dopamine receptor binding	IPI	27460146
GO:0032456	Process	Endocytic recycling	IMP	20164305, 21602791
GO:0032463	Process	Negative regulation of protein homooligomerization	IEA
GO:0033365	Process	Protein localization to organelle	IEA
GO:0036010	Process	Protein localization to endosome	IMP	28892079
GO:0042147	Process	Retrograde transport, endosome to Golgi	IBA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IEA
GO:0042147	Process	Retrograde transport, endosome to Golgi	IMP	15078903, 26618722, 27385586
GO:0042147	Process	Retrograde transport, endosome to Golgi	NAS	11102511, 18193037, 26220253
GO:0042176	Process	Regulation of protein catabolic process	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043653	Process	Mitochondrial fragmentation involved in apoptotic process	IMP	26618722
GO:0045056	Process	Transcytosis	IDA	15247922
GO:0045202	Component	Synapse	IEA
GO:0045732	Process	Positive regulation of protein catabolic process	IGI	25533483
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IGI	25533483
GO:0050793	Process	Regulation of developmental process	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050882	Process	Voluntary musculoskeletal movement	IEA
GO:0051049	Process	Regulation of transport	IEA
GO:0051246	Process	Regulation of protein metabolic process	IDA	26618722
GO:0051246	Process	Regulation of protein metabolic process	IGI	25533483
GO:0060161	Process	Positive regulation of dopamine receptor signaling pathway	IDA	27460146
GO:0061357	Process	Positive regulation of Wnt protein secretion	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0090128	Process	Regulation of synapse maturation	IEA
GO:0090141	Process	Positive regulation of mitochondrial fission	IMP	26618722
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0090326	Process	Positive regulation of locomotion involved in locomotory behavior	IEA
GO:0097422	Component	Tubular endosome	IDA	15078903
GO:0098691	Component	Dopaminergic synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098887	Process	Neurotransmitter receptor transport, endosome to postsynaptic membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099003	Process	Vesicle-mediated transport in synapse	IEA
GO:0099073	Component	Mitochondrion-derived vesicle	IDA	26618722
GO:0099074	Process	Mitochondrion to lysosome vesicle-mediated transport	IMP	26618722
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:0099639	Process	Neurotransmitter receptor transport, endosome to plasma membrane	IDA	27460146
GO:0099639	Process	Neurotransmitter receptor transport, endosome to plasma membrane	IEA
GO:0150052	Process	Regulation of postsynapse assembly	IEA
GO:1902823	Process	Negative regulation of late endosome to lysosome transport	IMP	23563491
GO:1902950	Process	Regulation of dendritic spine maintenance	IMP	26618722
GO:1903181	Process	Positive regulation of dopamine biosynthetic process	IEA
GO:1903828	Process	Negative regulation of protein localization	IEA
GO:1903829	Process	Positive regulation of protein localization	IEA
GO:1904377	Process	Positive regulation of protein localization to cell periphery	IMP	25533483
GO:1904377	Process	Positive regulation of protein localization to cell periphery	ISS
GO:1905166	Process	Negative regulation of lysosomal protein catabolic process	IEA
GO:1905606	Process	Regulation of presynapse assembly	ISS	25533483
GO:2000331	Process	Regulation of terminal button organization	IMP	26618722

MIM	HGNC	e!Ensembl
601501	13487	ENSG00000069329

Q96QK1

Protein name

Vacuolar protein sorting-associated protein 35 (hVPS35) (Maternal-embryonic 3) (Vesicle protein sorting 35)

Protein function

Acts as a component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins

PDB

2R17 , 5F0J , 5F0K , 5F0L , 5F0M , 5F0P , 5OSH , 5OSI , 7BLN , 7BLO , 8R02 , 8R0J , 8RKS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03635	Vps35	15 → 753	Vacuolar protein sorting-associated protein 35	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart, brain, placenta, skeletal muscle, spleen, thymus, testis, ovary, small intestine, kidney and colon.

Sequence

MPTTQQSPQDEQEKLLDEAIQAVKVQSFQMKRCLDKNKLMDALKHASNMLGELRTSMLSP
KSYYELYMAISDELHYLEVYLTDEFAKGRKVADLYELVQYAGNIIPRLYLLITVGVVYVK
SFPQSRKDILKDLVEMCRGVQHPLRGLFLRNYLLQCTRNILPDEGEPTDEETTGDISDSM
DFVLLNFAEMNKLWVRMQHQGHSRDREKRERERQELRILVGTNLVRLSQLEGVNVERYKQ
IVLTGILEQVVNCRDALAQEYLMECIIQVFPDEFHLQTLNPFLRACAELHQNVNVKNIII
ALIDRLALFAHREDGPGIPADIKLFDIFSQQVATVIQSRQDMPSEDVVSLQVSLINLAMK
CYPDRVDYVDKVLETTVEIFNKLNLEHIATSSAVSKELTRLLKIPVDTYNNILTVLKLKH
FHPLFEYFDYESRKSMSCYVLSNVLDYNTEIVSQDQVDSIMNLVSTLIQDQPDQPVEDPD
PEDFADEQSLVGRFIHLLRSEDPDQQYLILNTARKHFGAGGNQRIRFTLPPLVFAAYQLA
FRYKENSKVDDKWEKKCQKIFSFAHQTISALIKAELAELPLRLFLQGALAAGEIGFENHE
TVAYEFMSQAFSLYEDEISDSKAQLAAITLIIGTFERMKCFSEENHEPLRTQCALAASKL
LKKPDQGRAVSTCAHLFWSGRNTDKNGEELHGGKRVMECLKKALKIANQCMDPSLQVQLF
IEILNRYIYFYEKENDAVTIQVLNQLIQKIREDLPNLESSEETEQINKHFHNTLEHLRLR
RESPESEGPIYEGLIL

Sequence length

796

Interactions

View interactions

	KEGG		Reactome
	Endocytosis		WNT ligand biogenesis and trafficking

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Parkinson disease 17	Pathogenic	rs188286943	RCV000023115	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

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.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LATE ONSET PARKINSON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EAR, PATELLA, SHORT STATURE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY LATE ONSET PARKINSON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY LATE-ONSET PARKINSON DISEASE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease	Benign	ClinVar CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinson Disease, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease, late-onset	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VPS35-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (51)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Akinesia	Akinesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	23595767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	31289348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21733561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	28934248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24440570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	25118025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	25118025	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32839179	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24980502, 33032646	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary late-onset Parkinson disease	Hereditary Parkinson`s Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ischemic stroke	Ischemic Stroke	BEFREE	31771656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	32232888, 34983390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21733561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	28765075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	28040727, 28765075, 33142012, 34127073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	23411763, 28383562	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28399880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34602481, 37950040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29853629, 31630641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24440570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	29203636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21763482, 22154191, 22198721, 22336192, 22410496, 22673036, 22801713, 22991136, 23125461, 23261770, 23408866, 23411763, 23462481, 23536430, 23726718 View all (42 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinson Disease	Parkinson disease	Pubtator	22154191, 23125461, 23408866, 23411763, 24152121, 24218364, 24684791, 24819384, 24980502, 25118025, 27385586, 28040727, 28383562, 28487947, 28765075 View all (18 more)	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinson Disease	Parkinson disease	CTD_human_DG	25149416		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PARKINSON DISEASE 17	Parkinson disease	UNIPROT_DG	21763482, 21763483, 22517097, 23395371, 24819384, 24980502		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARKINSON DISEASE 17	Parkinson disease	GENOMICS_ENGLAND_DG	23408866, 24854799		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARKINSON DISEASE 17	Parkinson disease	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARKINSON DISEASE 17	Parkinson disease	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	27861377, 28131822	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	21763483, 22410496, 23261770, 24684791, 25475142, 26300542, 27262440		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinsonian Disorders	Parkinson disease	Pubtator	24980502	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	25416282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	19531583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	31289348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21822266		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Deprivation	Sleep deprivation	Pubtator	28040727	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	28040727, 28765075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36738481	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37950040	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	31289348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	24980502		★★★★★ ★☆☆☆☆ Found in Text Mining only

VPS35 (VPS35 retromer complex component)