Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55737
Gene name Gene Name - the full gene name approved by the HGNC.
VPS35 retromer complex component
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VPS35
Synonyms (NCBI Gene) Gene synonyms aliases
MEM3, PARK17
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PARK17
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q11.2
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601501 13487 ENSG00000069329
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart, brain, placenta, skeletal muscle, spleen, thymus, testis, ovary, small intestine, kidney and colon.
Sequence
Sequence length 796
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Endocytosis   WNT ligand biogenesis and trafficking
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Akinesia Akinesia rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335
View all (33 more)
Parkinson disease Parkinsonian Disorders, Parkinson Disease, PARKINSON DISEASE 17 rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432
View all (84 more)
25149416, 21763482, 24819384, 24854799, 23395371, 21763483, 22517097, 23408866, 24980502
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
21822266
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Mental retardation intellectual disability GenCC
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 23595767
Bovine Respiratory Disease Complex Associate 28765075
Charcot Marie Tooth Disease Associate 19531583
Death Associate 23411763
Drug Related Side Effects and Adverse Reactions Associate 28383562, 28487947
Essential Tremor Associate 25118025
Genetic Diseases Inborn Associate 27909246
Glioma Associate 32839179
Heart Diseases Associate 24980502, 33032646
Lewy Body Disease Associate 32232888, 34983390