Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	149111
Gene name	Cornichon family AMPA receptor auxiliary protein 3
Gene symbol	CNIH3
Synonyms (NCBI Gene)	CNIH-3
Chromosome	1
Chromosome location	1q42.12

Show/Hide all (62)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017447	hsa-miR-335-5p	Microarray	18185580
MIRT899697	hsa-miR-1207-3p	CLIP-seq
MIRT899698	hsa-miR-188-3p	CLIP-seq
MIRT899699	hsa-miR-1915	CLIP-seq
MIRT899700	hsa-miR-329	CLIP-seq
MIRT899701	hsa-miR-337-3p	CLIP-seq
MIRT899702	hsa-miR-338-3p	CLIP-seq
MIRT899703	hsa-miR-361-3p	CLIP-seq
MIRT899704	hsa-miR-362-3p	CLIP-seq
MIRT899705	hsa-miR-4528	CLIP-seq
MIRT899706	hsa-miR-4667-3p	CLIP-seq
MIRT899707	hsa-miR-4699-3p	CLIP-seq
MIRT899708	hsa-miR-4726-3p	CLIP-seq
MIRT899709	hsa-miR-4749-3p	CLIP-seq
MIRT899710	hsa-miR-572	CLIP-seq
MIRT899711	hsa-miR-605	CLIP-seq
MIRT899712	hsa-miR-616	CLIP-seq
MIRT899713	hsa-miR-766	CLIP-seq
MIRT899714	hsa-miR-873	CLIP-seq
MIRT737626	hsa-miR-150	CLIP-seq
MIRT737631	hsa-miR-1972	CLIP-seq
MIRT737622	hsa-miR-3921	CLIP-seq
MIRT737624	hsa-miR-4264	CLIP-seq
MIRT737630	hsa-miR-4650-5p	CLIP-seq
MIRT737621	hsa-miR-4653-5p	CLIP-seq
MIRT737628	hsa-miR-4713-5p	CLIP-seq
MIRT737629	hsa-miR-4757-5p	CLIP-seq
MIRT737625	hsa-miR-4797-3p	CLIP-seq
MIRT737627	hsa-miR-532-3p	CLIP-seq
MIRT737620	hsa-miR-593	CLIP-seq
MIRT737623	hsa-miR-622	CLIP-seq
MIRT2202630	hsa-miR-1322	CLIP-seq
MIRT2202631	hsa-miR-135a	CLIP-seq
MIRT2202632	hsa-miR-135b	CLIP-seq
MIRT2202633	hsa-miR-2278	CLIP-seq
MIRT2202634	hsa-miR-3187-3p	CLIP-seq
MIRT2202635	hsa-miR-3622b-5p	CLIP-seq
MIRT2202636	hsa-miR-3925-3p	CLIP-seq
MIRT2202637	hsa-miR-4253	CLIP-seq
MIRT2202638	hsa-miR-4529-5p	CLIP-seq
MIRT899706	hsa-miR-4667-3p	CLIP-seq
MIRT2202639	hsa-miR-4691-5p	CLIP-seq
MIRT2202640	hsa-miR-4704-3p	CLIP-seq
MIRT2202641	hsa-miR-4761-3p	CLIP-seq
MIRT2202642	hsa-miR-4797-5p	CLIP-seq
MIRT2386277	hsa-miR-1231	CLIP-seq
MIRT2386278	hsa-miR-3120-5p	CLIP-seq
MIRT2386279	hsa-miR-3160-3p	CLIP-seq
MIRT2386280	hsa-miR-3670	CLIP-seq
MIRT737622	hsa-miR-3921	CLIP-seq
MIRT2386281	hsa-miR-4303	CLIP-seq
MIRT2386282	hsa-miR-4487	CLIP-seq
MIRT737621	hsa-miR-4653-5p	CLIP-seq
MIRT2386283	hsa-miR-558	CLIP-seq
MIRT2386284	hsa-miR-626	CLIP-seq
MIRT2505566	hsa-miR-3591-3p	CLIP-seq
MIRT2505567	hsa-miR-3613-3p	CLIP-seq
MIRT2505568	hsa-miR-4684-3p	CLIP-seq
MIRT2505569	hsa-miR-518a-5p	CLIP-seq
MIRT2505570	hsa-miR-527	CLIP-seq
MIRT2505571	hsa-miR-586	CLIP-seq
MIRT2505572	hsa-miR-607	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0012507	Component	ER to Golgi transport vesicle membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016247	Function	Channel regulator activity	IEA
GO:0030425	Component	Dendrite	IBA
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0032281	Component	AMPA glutamate receptor complex	ISS
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043198	Component	Dendritic shaft	IEA
GO:0043198	Component	Dendritic shaft	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099645	Process	Neurotransmitter receptor localization to postsynaptic specialization membrane	IEA
GO:2000311	Process	Regulation of AMPA receptor activity	IDA	20805473

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q8TBE1

Protein name

Protein cornichon homolog 3 (CNIH-3) (Cornichon family AMPA receptor auxiliary protein 3)

Protein function

Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivatio

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03311	Cornichon	7 → 51	Cornichon protein	Family
PF03311	Cornichon	50 → 151	Cornichon protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expression is up-regulated in dorsolateral prefrontal cortex of patients with schizophrenia (postmortem brain study). {ECO:0000269|PubMed:23103966}.

Sequence

MAFTFAAFCYMLSLVLCAALIFFAIWHIIAFDELRTDFKSPIDQCNPVHARERLRNIERI
CFLLRKLVLPEYSIHSLFCIMFLCAQEWLTLGLNVPLLFYHFWRYFHCPADSSELAYDPP
VVMNADTLSYCQKEAWCKLAFYLLSFFYYLYCMIYTLVSS

Sequence length

160

Interactions

View interactions

	Reactome
			COPII-mediated vesicle transport Cargo concentration in the ER

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	36230901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	29299148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23103966		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	23103966		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CNIH3 (cornichon family AMPA receptor auxiliary protein 3)