VPS36 (vacuolar protein sorting 36 homolog)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 51028 |
| Gene name | Vacuolar protein sorting 36 homolog |
| Gene symbol | VPS36 |
| Synonyms (NCBI Gene) |
C13orf9CGI-145EAP45
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| 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 |
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miRNA
miRNA information provided by mirtarbase database.
428
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Sequence |
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| Sequence length | 386 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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