Gene Gene information from NCBI Gene database.
Entrez ID 10175
Gene name Cornichon family member 1
Gene symbol CNIH1
Synonyms (NCBI Gene)
CNIHCNIH-1CNILTGAM77
Chromosome 14
Chromosome location 14q22.2
miRNA miRNA information provided by mirtarbase database.
147
miRTarBase ID miRNA Experiments Reference
MIRT341538 hsa-miR-367-3p PAR-CLIP 20371350
MIRT341535 hsa-miR-32-5p PAR-CLIP 20371350
MIRT341540 hsa-miR-92b-3p PAR-CLIP 20371350
MIRT341536 hsa-miR-92a-3p PAR-CLIP 20371350
MIRT341534 hsa-miR-25-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005102 Function Signaling receptor binding IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611287 19431 ENSG00000100528
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95406
Protein name Protein cornichon homolog 1 (CNIH-1) (Cornichon family AMPA receptor auxiliary protein 1) (Protein cornichon homolog) (T-cell growth-associated molecule 77) (TGAM77)
Protein function Involved in the selective transport and maturation of TGF-alpha family proteins.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03311 Cornichon 7 135 Cornichon protein Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, liver, skeletal muscle, pancreas, adrenal medulla and cortex, thyroid, testis, spleen, appendix, peripheral blood lymphocytes and bone marrow. Lower expression found in brain, placenta, lung, kidney, ovary, s
Sequence
Sequence length 144
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
Cargo concentration in the ER
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
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations