• Gene id: 84317

Gene Summary

• Gene Symbol: CCDC115   Gene   UCSC   Ensembl
• Aliases: CDG2O, ccp1
• Gene name: coiled-coil domain containing 115
• Alternate names: coiled-coil domain-containing protein 115,
• Gene location: 2q21.1 (130342680: 130337932)     Exons: 6     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast
• OMIM: 613734

Protein Summary

• Protein general information: Q96NT0  
  • Name: Coiled coil domain containing protein 115
  • Length: 180  
  • Mass: 19761
  • Tissue specificity: Expressed throughout the brain. {ECO
• Sequence:

  MAALDLRAELDSLVLQLLGDLEELEGKRTVLNARVEEGWLSLAKARYAMGAKSVGPLQYASHMEPQVCLHASEAQ
  EGLQKFKVVRAGVHAPEEVGPREAGLRRRKGPTKTPEPESSEAPQDPLNWFGILVPHSLRQAQASFRDGLQLAAD
  IASLQNRIDWGRSQLRGLQEKLKQLEPGAA

• Structural information:
  • Interpro: IPR040357  
  • STRING: ENSP00000259229
• Other Databases: GeneCards:  CCDC115  Malacards:  CCDC115

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051082	unfolded protein binding	IBA	molecular function
GO:0042406	extrinsic component of endoplasmic reticulum membrane	IBA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IDA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0030137	COPI-coated vesicle	IDA	cellular component
GO:0006879	cellular iron ion homeostasis	IMP	biological process
GO:1905146	lysosomal protein catabolic process	IMP	biological process
GO:0007042	lysosomal lumen acidification	IMP	biological process
GO:0036295	cellular response to increased oxygen levels	IMP	biological process
GO:0070072	vacuolar proton-transporting V-type ATPase complex assembly	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	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:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0030137	COPI-coated vesicle	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Congenital disorders of glycosylation type II	KEGG:H00119
Congenital disorders of glycosylation type II	KEGG:H00119
Teratozoospermia	MIK: 17327269

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)