Gene Gene information from NCBI Gene database.
Entrez ID 84269
Gene name Coiled-coil-helix-coiled-coil-helix domain containing 5
Gene symbol CHCHD5
Synonyms (NCBI Gene)
C2orf9CHTM1MIC14MIX14
Chromosome 2
Chromosome location 2q14.1
miRNA miRNA information provided by mirtarbase database.
250
miRTarBase ID miRNA Experiments Reference
MIRT049489 hsa-miR-92a-3p CLASH 23622248
MIRT659543 hsa-miR-125a-3p HITS-CLIP 23824327
MIRT670107 hsa-miR-764 HITS-CLIP 23824327
MIRT670106 hsa-miR-3934-5p HITS-CLIP 23824327
MIRT659542 hsa-miR-1224-3p HITS-CLIP 23824327
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 32296183, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion NAS 28893745
GO:0005758 Component Mitochondrial intermembrane space IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616978 17840 ENSG00000125611
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BSY4
Protein name Coiled-coil-helix-coiled-coil-helix domain-containing protein 5
PDB 2LQL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16860 CX9C 5 49 CHCH-CHCH-like Cx9C, IMS import disulfide relay-system, Domain
Sequence
MQAALEVTARYCGRELEQYGQCVAAKPESWQRDCHYLKMSIAQCTSSHPIIRQIRQACAQ
PFEAFEECLRQNEAAVGNCAEHMRRFLQCAEQVQPPRSPATVEAQPLPAS
Sequence length 110
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
AMENORRHEA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL ENAMEL HYPOPLASIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS 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 of lung Lung carcinoma BEFREE 31221176
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 28893745 Associate
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 28893745
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung Neoplasms BEFREE 31221176
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 31221176
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29371680, 31221176
★☆☆☆☆
Found in Text Mining only
Malignant tumor of colon Colonic Neoplasms BEFREE 31221176
★☆☆☆☆
Found in Text Mining only
Obesity Obesity BEFREE 28893745
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 28893745 Associate
★☆☆☆☆
Found in Text Mining only