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Gene Gene information from NCBI Gene database.
Entrez ID 84313
Gene name Vacuolar protein sorting 25 homolog
Gene symbol VPS25
Synonyms (NCBI Gene)
DERP9EAP20FAP20
Chromosome 17
Chromosome location 17q21.2
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 pseudogene of this gene is present on c
miRNA miRNA information provided by mirtarbase database.
277 Show/Hide all (277)
miRTarBase ID miRNA Experiments Reference
MIRT030413 hsa-miR-24-3p Microarray 19748357
MIRT1486240 hsa-let-7a CLIP-seq
MIRT1486241 hsa-let-7b CLIP-seq
MIRT1486242 hsa-let-7c CLIP-seq
MIRT1486243 hsa-let-7d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31 Show/Hide all (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
610907 28122 ENSG00000131475
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRG1
Protein name Vacuolar protein-sorting-associated protein 25 (hVps25) (Dermal papilla-derived protein 9) (ELL-associated protein of 20 kDa) (ESCRT-II complex subunit VPS25)
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 2ZME , 3CUQ , 3HTU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05871 ESCRT-II 10 → 145 ESCRT-II complex subunit Family
Tissue specificity TISSUE SPECIFICITY: Expressed at the mRNA level in kidney, liver, pancreas, and placenta. Lower levels of expression are found in heart, skeletal muscle, brain and lung. {ECO:0000269|PubMed:16889659}.
Sequence
Sequence length 176
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
VPS25-related neurodevelopmental delay Likely pathogenic rs2543968571 RCV004577399
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cholangiocarcinoma Cholangiocarcinoma Pubtator 35672673 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 40149859 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only