• Gene id: 10311

Gene Summary

• Gene Symbol: VPS26C   Gene   UCSC   Ensembl
• Aliases: DCRA, DSCR3, DSCRA
• Gene name: VPS26 endosomal protein sorting factor C
• Alternate names: vacuolar protein sorting-associated protein 26C, DSCR3 arrestin fold containing, Down syndrome critical region 3, Down syndrome critical region gene 3, Down syndrome critical region protein 3, Down syndrome critical region protein A,
• Gene location: 21q22.13 (37268107: 37223419)     Exons: 8     NC_000021.9
• Gene summary(Entrez): 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
• OMIM: 605298

Protein Summary

• Protein general information: O14972  
  • Name: Vacuolar protein sorting associated protein 26C (Down syndrome critical region protein 3) (Down syndrome critical region protein A)
  • Length: 297  
  • Mass: 33010
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MGTALDIKIKRANKVYHAGEVLSGVVVISSKDSVQHQGVSLTMEGTVNLQLSAKSVGVFEAFYNSVKPIQIINST
  IEMVKPGKFPSGKTEIPFEFPLHLKGNKVLYETYHGVFVNIQYTLRCDMKRSLLAKDLTKTCEFIVHSAPQKGKF
  TPSPVDFTITPETLQNVKERALLPKFLLRGHLNSTNCVITQPLTGELVVESSEAAIRSVELQLVRVETCGCAEGY
  ARDATEIQNIQIADGDVCRGLSVPIYMVFPRLFTCPTLETTNFKVEFEVNIVVLLHPDHLITENFPLKLCRI

• Structural information:
  • Interpro: IPR014752  IPR014756  IPR028934  
  • DIP: 47317
  • STRING: ENSP00000311399
• Other Databases: GeneCards:  VPS26C  Malacards:  VPS26C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005768	endosome	IBA	cellular component
GO:1990126	retrograde transport, endosome to plasma membrane	IMP	biological process
GO:0032456	endocytic recycling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006886	intracellular protein transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray