Gene Gene information from NCBI Gene database.
Entrez ID 6293
Gene name VPS52 subunit of GARP complex
Gene symbol VPS52
Synonyms (NCBI Gene)
ARE1SAC2SACM2LdJ1033B10.5
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
miRNA miRNA information provided by mirtarbase database.
174
miRTarBase ID miRNA Experiments Reference
MIRT651672 hsa-miR-7109-3p HITS-CLIP 23824327
MIRT651671 hsa-miR-330-3p HITS-CLIP 23824327
MIRT651670 hsa-miR-105-5p HITS-CLIP 23824327
MIRT651669 hsa-miR-7853-5p HITS-CLIP 23824327
MIRT651668 hsa-miR-4719 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0000938 Component GARP complex IBA
GO:0000938 Component GARP complex IDA 25799061
GO:0000938 Component GARP complex NAS 25799061
GO:0005515 Function Protein binding IPI 15878329, 18985028, 20163565, 20685960, 21516116, 23932592, 25416956, 25799061, 26496610, 26871637, 28514442, 29892012, 31515488, 32296183, 33961781, 36217029
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603443 10518 ENSG00000223501
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF04129 Vps52 94 601 Vps52 / Sac2 family Family
Sequence
Sequence length 723
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Retrograde transport at the Trans-Golgi-Network
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations