COMMD8 (COMM domain containing 8)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 54951 |
| Gene name | COMM domain containing 8 |
| Gene symbol | COMMD8 |
| Synonyms (NCBI Gene) |
-
|
| Chromosome | 4 |
| Chromosome location | 4p12 |
| Summary | The protein encoded by this gene binds coiled-coil domain-containing protein 22 (CCDC22), and this complex can regulate the turnover of I-kappa-B and the activation of NF-kappa-B. [provided by RefSeq, Jul 2016] |
|
miRNA
miRNA information provided by mirtarbase database.
223
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
Protein
Protein information from UniProt database.
|
|||||||||||
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q9NX08 | ||||||||||
| Protein name | COMM domain-containing protein 8 | ||||||||||
| Protein function | Scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). May modulate ac | ||||||||||
| PDB | 8F2R , 8F2U , 8P0W | ||||||||||
| Family and domains |
Pfam
|
||||||||||
| Tissue specificity | TISSUE SPECIFICITY: Widely expressed with highest expression in thyroid. {ECO:0000269|PubMed:15799966}. | ||||||||||
| Sequence |
|
||||||||||
| Sequence length | 183 | ||||||||||
| Interactions | View interactions | ||||||||||
|
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
|
|||||||
|
|||||||
|
Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
|
|||||||||||||||||||||||||||||||
|
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)
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||