Gene Gene information from NCBI Gene database.
Entrez ID 29097
Gene name Cornichon family member 4
Gene symbol CNIH4
Synonyms (NCBI Gene)
CNIH-4HSPC163
Chromosome 1
Chromosome location 1q42.11
miRNA miRNA information provided by mirtarbase database.
75
miRTarBase ID miRNA Experiments Reference
MIRT021630 hsa-miR-142-3p Microarray 17612493
MIRT023924 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT029902 hsa-miR-26b-5p Microarray 19088304
MIRT042444 hsa-miR-424-5p CLASH 23622248
MIRT041742 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IBA
GO:0005515 Function Protein binding IPI 24405750, 32296183
GO:0005783 Component Endoplasmic reticulum IDA 24405750
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617483 25013 ENSG00000143771
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P003
Protein name Protein cornichon homolog 4 (CNIH-4) (Cornichon family AMPA receptor auxiliary protein 4)
Protein function Involved in G protein-coupled receptors (GPCRs) trafficking from the endoplasmic reticulum to the cell surface; it promotes the exit of GPCRs from the early secretory pathway, likely through interaction with the COPII machinery (PubMed:24405750)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03311 Cornichon 3 130 Cornichon protein Family
Sequence
Sequence length 139
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 38092781 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33934539 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 31253868
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31253868 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 25646370
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 37062068 Stimulate
★☆☆☆☆
Found in Text Mining only
Malignant tumor of colon Colonic Neoplasms BEFREE 31253868
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 36404537 Associate
★☆☆☆☆
Found in Text Mining only