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VPS35 (VPS35 retromer complex component)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55737
Gene nameGene Name - the full gene name approved by the HGNC.
VPS35 retromer complex component
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
VPS35
SynonymsGene synonyms aliases
MEM3, PARK17
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q11.2
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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, 24344282, 24747528, 25278552, 25416956, 25502805, 26496610, 26618722, 27385586, 27460146, 28514442, 28892079, 31515488, 32296183, 32814053
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
Sequence length 796
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Endocytosis   WNT ligand biogenesis and trafficking
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Akinesia Akinesia rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335, rs751889864, rs559933584, rs761899995, rs797045528, rs551423795, rs886037842, rs560525099, rs775583136, rs1349476281, rs794727884, rs1479498379, rs1555142142, rs1558010146, rs1558003446, rs1554757237, rs770987150, rs768892432, rs1558008455, rs1560224831, rs1558005340, rs747595523, rs1567568217, rs774070092, rs776532930, rs765096923, rs1560200925, rs201947904, rs1595903667, rs376573993, rs778172294, rs759488854, rs761584017, rs769850502
Parkinson disease Parkinsonian Disorders, Parkinson Disease, PARKINSON DISEASE 17 rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 25149416, 21763482, 24819384, 24854799, 23395371, 21763483, 22517097, 23408866, 24980502
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 21822266
Unknown
Disease name Disease term dbSNP ID References
Cerebral cortical atrophy Cerebral cortical atrophy
Dementia Dementia
Dyskinetic syndrome Dyskinetic syndrome
Dysphagia Deglutition Disorders

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