CNIH1 (cornichon family member 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 10175 |
| Gene name | Cornichon family member 1 |
| Gene symbol | CNIH1 |
| Synonyms (NCBI Gene) |
CNIHCNIH-1CNILTGAM77
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| Chromosome | 14 |
| Chromosome location | 14q22.2 |
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miRNA
miRNA information provided by mirtarbase database.
147
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| 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 |
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| Sequence length | 144 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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)
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