Gene Gene information from NCBI Gene database.
Entrez ID 51028
Gene name Vacuolar protein sorting 36 homolog
Gene symbol VPS36
Synonyms (NCBI Gene)
C13orf9CGI-145EAP45
Chromosome 13
Chromosome location 13q14.3
Summary This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is assoc
miRNA miRNA information provided by mirtarbase database.
428
miRTarBase ID miRNA Experiments Reference
MIRT020916 hsa-miR-155-5p Proteomics 18668040
MIRT030973 hsa-miR-21-5p Microarray 18591254
MIRT464101 hsa-miR-6858-3p PAR-CLIP 23592263
MIRT464100 hsa-miR-4676-5p PAR-CLIP 23592263
MIRT464099 hsa-miR-575 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000814 Component ESCRT II complex IBA
GO:0000814 Component ESCRT II complex IDA 16973552
GO:0000814 Component ESCRT II complex IEA
GO:0000814 Component ESCRT II complex IPI 18539118
GO:0000814 Component ESCRT II complex TAS 20588296
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610903 20312 ENSG00000136100
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86VN1
Protein name Vacuolar protein-sorting-associated protein 36 (ELL-associated protein of 45 kDa) (ESCRT-II complex subunit VPS36)
Protein function Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembr
PDB 2HTH , 2ZME , 3CUQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11605 Vps36_ESCRT-II 2 88 Vacuolar protein sorting protein 36 Vps36 Domain
PF04157 EAP30 154 370 EAP30/Vps36 family Family
Sequence
Sequence length 386
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Endocytosis   Endosomal Sorting Complex Required For Transport (ESCRT)
HCMV Late Events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
LEWY BODY DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Malignant neoplasm of prostate Prostate cancer BEFREE 28197629
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 28197629
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 28197629
★☆☆☆☆
Found in Text Mining only