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
miRTarBase ID miRNA Experiments Reference
MIRT047054 hsa-miR-183-5p CLASH 23622248
MIRT903562 hsa-miR-132 CLIP-seq
MIRT903563 hsa-miR-137 CLIP-seq
MIRT903564 hsa-miR-212 CLIP-seq
MIRT903565 hsa-miR-3160-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15799966, 21778237, 21900206, 23563313, 25355947, 26496610, 28514442, 28892079, 30833792, 32296183, 33961781, 35271311, 37172566
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616656 26036 ENSG00000169019
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

Accession ID Position in sequence Description Type
PF07258 COMM_domain 114 183 COMM domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest expression in thyroid. {ECO:0000269|PubMed:15799966}.
Sequence
MEPEEGTPLWRLQKLPAELGPQLLHKIIDGICGRAYPVYQDYHTVWESEEWMHVLEDIAK
FFKAIVGKNLPDEEIFQQLNQLNSLHQETIMKCVKSRKDEIKQALSREIVAISSAQLQDF
DWQVKLALSSDKIAALRMPLLSLHLDVKENGEVKPYSIEMSREELQNLIQSLEAANKVVL
QLK
Sequence length 183
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
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)
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
HEMOLYTIC ANEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID 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
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34493238 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 30982576
★☆☆☆☆
Found in Text Mining only
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 27871936, 31566716
★☆☆☆☆
Found in Text Mining only