Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
149111
Gene name Gene Name - the full gene name approved by the HGNC.
Cornichon family AMPA receptor auxiliary protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CNIH3
Synonyms (NCBI Gene) Gene synonyms aliases
CNIH-3
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.12
miRNA miRNA information provided by mirtarbase database.
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
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 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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID 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
VVMNADTLSYCQKEAWCKLAFYLLSFFYYLY
CMIYTLVSS
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
Breast Cancer Breast cancer specific mortality in breast cancer N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 36230901
Carotid Body Tumor Associate 30967136
Opioid Related Disorders Associate 31081034