VPS52 (VPS52 subunit of GARP complex)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 6293 |
| Gene name | VPS52 subunit of GARP complex |
| Gene symbol | VPS52 |
| Synonyms (NCBI Gene) |
ARE1SAC2SACM2LdJ1033B10.5
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| Chromosome | 6 |
| Chromosome location | 6p21.32 |
| Summary | This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and |
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miRNA
miRNA information provided by mirtarbase database.
174
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
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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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Q8N1B4 | ||||||||||
| Protein name | Vacuolar protein sorting-associated protein 52 homolog (SAC2 suppressor of actin mutations 2-like protein) | ||||||||||
| Protein function | Acts as a component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors bet | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 723 | ||||||||||
| 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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