Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
254263
Gene name Gene Name - the full gene name approved by the HGNC.
Cornichon family AMPA receptor auxiliary protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CNIH2
Synonyms (NCBI Gene) Gene synonyms aliases
CNIH-2, Cnil
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017758 hsa-miR-335-5p Microarray 18185580
MIRT899581 hsa-miR-3136-3p CLIP-seq
MIRT899582 hsa-miR-4447 CLIP-seq
MIRT899583 hsa-miR-4472 CLIP-seq
MIRT899584 hsa-miR-4525 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IBA
GO:0005515 Function Protein binding IPI 20805473, 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611288 28744 ENSG00000174871
Protein
UniProt ID Q6PI25
Protein name Protein cornichon homolog 2 (CNIH-2) (Cornichon family AMPA receptor auxiliary protein 2) (Cornichon-like protein)
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
PDB 8SS2 , 8SS3 , 8SS4 , 8SS6 , 8SS7 , 8SSA , 8SSB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03311 Cornichon 7 49 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
Sequence length 160
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
Cargo concentration in the ER
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gout Gout N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Gout Associate 25646370, 28642574