• Gene id: 254263

Gene Summary

• Gene Symbol: CNIH2   Gene   UCSC   Ensembl
• Aliases: CNIH-2, Cnil
• Gene name: cornichon family AMPA receptor auxiliary protein 2
• Alternate names: protein cornichon homolog 2, cornichon homolog 2,
• Gene location: 11q13.2 (66278174: 66284205)     Exons: 6     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is an auxiliary subunit of the ionotropic glutamate receptor of the AMPA subtype. AMPA receptors mediate fast synaptic neurotransmission in the central nervous system. This protein has been reported to interact with the Ty
• OMIM: 617754

Protein Summary

• Protein general information: Q6PI25  
  • Name: Protein cornichon homolog 2 (CNIH 2) (Cornichon family AMPA receptor auxiliary protein 2) (Cornichon like protein)
  • Length: 160  
  • Mass: 18931
  • Tissue specificity: Expression is up-regulated in dorsolateral prefrontal cortex of patients with schizophrenia (postmortem brain study). {ECO
• Sequence:

  MAFTFAAFCYMLTLVLCASLIFFVIWHIIAFDELRTDFKNPIDQGNPARARERLKNIERICCLLRKLVVPEYSIH
  GLFCLMFLCAAEWVTLGLNIPLLFYHLWRYFHRPADGSEVMYDAVSIMNADILNYCQKESWCKLAFYLLSFFYYL
  YSMVYTLVSF

• Structural information:
  • Interpro: IPR003377  IPR033466  
  • Prosite: PS01340
  • STRING: ENSP00000310003
• Other Databases: GeneCards:  CNIH2  Malacards:  CNIH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000311	regulation of AMPA receptor activity	IDA	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0045211	postsynaptic membrane	ISS	cellular component
GO:0043198	dendritic shaft	ISS	cellular component
GO:0043197	dendritic spine	ISS	cellular component
GO:0032281	AMPA glutamate receptor complex	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
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:0098978	glutamatergic synapse	IEA	cellular component
GO:0098962	regulation of postsynaptic neurotransmitter receptor activity	IEA	biological process
GO:0051668	localization within membrane	IEA	biological process
GO:0035249	synaptic transmission, glutamatergic	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:2000311	regulation of AMPA receptor activity	IEA	biological process
GO:2000310	regulation of NMDA receptor activity	IEA	biological process
GO:1903743	negative regulation of anterograde synaptic vesicle transport	IEA	biological process
GO:1902684	negative regulation of receptor localization to synapse	IEA	biological process
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0043198	dendritic shaft	IEA	cellular component
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0032281	AMPA glutamate receptor complex	IEA	cellular component
GO:2000311	regulation of AMPA receptor activity	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881