VPS26C (VPS26 endosomal protein sorting factor C)

Gene

• Entrez ID: 10311
• Gene name: VPS26 endosomal protein sorting factor C
• Gene symbol: VPS26C
• Synonyms (NCBI Gene): DCRA, DSCR3, DSCRA
• Chromosome: 21
• Chromosome location: 21q22.13
• Summary: The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndr

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28892079, 32296183, 33961781, 35914814, 37172566
GO:0005634	Component	Nucleus	HDA	16780588
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IEA
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0032456	Process	Endocytic recycling	IMP	28892079

Other IDs

• MIM: 605298
• HGNC: 3044
• e!Ensembl: ENSG00000157538

Protein

• UniProt ID: O14972
• Protein name: Vacuolar protein sorting-associated protein 26C (Down syndrome critical region protein 3) (Down syndrome critical region protein A)
• Protein function: Component of the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:39587083, PubMed:38062209, PubMed
• PDB: 8P0X, 8SYN, 8SYO, 9AU7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03643	Vps26	3 → 283	Vacuolar protein sorting-associated protein 26	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed.
• Sequence:

  MGTALDIKIKRANKVYHAGEVLSGVVVISSKDSVQHQGVSLTMEGTVNLQLSAKSVGVFE
  AFYNSVKPIQIINSTIEMVKPGKFPSGKTEIPFEFPLHLKGNKVLYETYHGVFVNIQYTL
  RCDMKRSLLAKDLTKTCEFIVHSAPQKGKFTPSPVDFTITPETLQNVKERALLPKFLLRG
  HLNSTNCVITQPLTGELVVESSEAAIRSVELQLVRVETCGCAEGYARDATEIQNIQIADG
  DVCRGLSVPIYMVFPRLFTCPTLETTNFKVEFEVNIVVLLHPDHLITENFPLKLCRI

• Sequence length: 297

Associated diseases

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Neurodevelopmental disorder	Likely pathogenic	rs2086074876	RCV004798896	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VPS26C-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29937416		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33827593	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	23686780	Associate	★☆☆☆☆ Found in Text Mining only