• Gene id: 83643

Gene Summary

• Gene Symbol: CCDC3   Gene   UCSC   Ensembl
• Gene name: coiled-coil domain containing 3
• Alternate names: coiled-coil domain-containing protein 3, fat/vessel-derived secretory protein, favine,
• Gene location: 10p13 (13099988: 12896624)     Exons: 8     NC_000010.11

Protein Summary

• Protein general information: Q9BQI4  
  • Name: Coiled coil domain containing protein 3 (Fat/vessel derived secretory protein) (Favine)
  • Length: 270  
  • Mass: 30731
  • Tissue specificity: Expressed in umbilical vein endothelial cells (HUVEC), and at lower levels in aortic smooth muscle cells (HASMC). {ECO
• Sequence:

  MLRQLLLAALCLAGPPAPARACQLPSEWRPLSEGCRAELAETIVYARVLALHPEAPGLYNHLPWQYHAGQGGLFY
  SAEVEMLCDQAWGSMLEVPAGSRLNLTGLGYFSCHSHTVVQDYSYFFFLRMDENYNLLPHGVNFQDAIFPDTQEN
  RRMFSSLFQFSNCSQGQQLATFSSDWEIQEDSRLMCSSVQKALFEEEDHVKKLQQKVATLEKRNRQLRERVKKVK
  RSLRQARKKGRHLELANQKLSEKLAAGALPHINARGPVRPPYLRG

• Structural information:
  • Interpro: IPR040311  
  • STRING: ENSP00000368102
• Other Databases: GeneCards:  CCDC3  Malacards:  CCDC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010804	negative regulation of tumor necrosis factor-mediated signaling pathway	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0046889	positive regulation of lipid biosynthetic process	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0051055	negative regulation of lipid biosynthetic process	IEA	biological process
GO:0045600	positive regulation of fat cell differentiation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0045833	negative regulation of lipid metabolic process	IDA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray