Gene Gene information from NCBI Gene database.
Entrez ID 79145
Gene name Coiled-coil-helix-coiled-coil-helix domain containing 7
Gene symbol CHCHD7
Synonyms (NCBI Gene)
COX23
Chromosome 8
Chromosome location 8q12.1
miRNA miRNA information provided by mirtarbase database.
203
miRTarBase ID miRNA Experiments Reference
MIRT023163 hsa-miR-124-3p Microarray 18668037
MIRT643034 hsa-miR-4282 HITS-CLIP 23824327
MIRT643033 hsa-miR-129-1-3p HITS-CLIP 23824327
MIRT643032 hsa-miR-129-2-3p HITS-CLIP 23824327
MIRT643031 hsa-miR-302b-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
GO:0005758 Component Mitochondrial intermembrane space IEA
GO:0033108 Process Mitochondrial respiratory chain complex assembly IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611238 28314 ENSG00000170791
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BUK0
Protein name Coiled-coil-helix-coiled-coil-helix domain-containing protein 7
PDB 2LQT
Family and domains
Sequence
MPSVTQRLRDPDINPCLSESDASTRCLDENNYDRERCSTYFLRYKNCRRFWNSIVMQRRK
NGVKPFMPTAAERDEILRAVGNMPY
Sequence length 85
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
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
Leukemia Myeloid Acute Myeloid leukemia Pubtator 24498085 Associate
★☆☆☆☆
Found in Text Mining only