• Gene id: 29097

Gene Summary

• Gene Symbol: CNIH4   Gene   UCSC   Ensembl
• Aliases: CNIH-4, CNIH2, HSPC163
• Gene name: cornichon family AMPA receptor auxiliary protein 4
• Alternate names: protein cornichon homolog 4, cornichon homolog 4,
• Gene location: 1q42.11 (224356878: 224379451)     Exons: 6     NC_000001.11
• OMIM: 617483

Protein Summary

• Protein general information: Q9P003  
  • Name: Protein cornichon homolog 4 (CNIH 4) (Cornichon family AMPA receptor auxiliary protein 4)
  • Length: 139  
  • Mass: 16093
• Sequence:

  MEAVVFVFSLLDCCALIFLSVYFIITLSDLECDYINARSCCSKLNKWVIPELIGHTIVTVLLLMSLHWFIFLLNL
  PVATWNIYRYIMVPSGNMGVFDPTEIHNRGQLKSHMKEAMIKLGFHLLCFFMYLYSMILALIND

• Structural information:
  • Interpro: IPR003377  
  • STRING: ENSP00000420443
• Other Databases: GeneCards:  CNIH4  Malacards:  CNIH4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031730	CCR5 chemokine receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Spermatogenic defects	MIK: 31037746

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R