Gene Gene information from NCBI Gene database.
Entrez ID 83643
Gene name Coiled-coil domain containing 3
Gene symbol CCDC3
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10p13
miRNA miRNA information provided by mirtarbase database.
30
miRTarBase ID miRNA Experiments Reference
MIRT022206 hsa-miR-124-3p Microarray 18668037
MIRT868812 hsa-miR-138 CLIP-seq
MIRT868813 hsa-miR-1972 CLIP-seq
MIRT868814 hsa-miR-3179 CLIP-seq
MIRT868815 hsa-miR-3202 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IBA
GO:0005576 Component Extracellular region IDA 28827783
GO:0005576 Component Extracellular region IEA
GO:0005783 Component Endoplasmic reticulum IDA
GO:0007165 Process Signal transduction IDA 28827783
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620579 23813 ENSG00000151468
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BQI4
Protein name Coiled-coil domain-containing protein 3 (Fat/vessel-derived secretory protein) (Favine)
Protein function Negatively regulates TNF-alpha-induced pro-inflammatory response in endothelial cells (ECs) via inhibition of TNF-alpha-induced NF-kappaB activation in ECs (PubMed:25193116). Positively regulates lipid accumulation in adipose cells (By similarit
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in umbilical vein endothelial cells (HUVEC), and at lower levels in aortic smooth muscle cells (HASMC). {ECO:0000269|PubMed:20043878}.
Sequence
MLRQLLLAALCLAGPPAPARACQLPSEWRPLSEGCRAELAETIVYARVLALHPEAPGLYN
HLPWQYHAGQGGLFYSAEVEMLCDQAWGSMLEVPAGSRLNLTGLGYFSCHSHTVVQDYSY
FFFLRMDENYNLLPHGVNFQDAIFPDTQENRRMFSSLFQFSNCSQGQQLATFSSDWEIQE
DSRLMCSSVQKALFEEEDHVKKLQQKVATLEKRNRQLRERVKKVKRSLRQARKKGRHLEL
ANQKLSEKLAAGALPHINARGPVRPPYLRG
Sequence length 270
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lip and oral cavity carcinoma association not found 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
Breast Neoplasms Breast neoplasm Pubtator 36647876 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 31081073
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 31081073
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Diabetic neuropathy Pubtator 33568476 Inhibit
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Malignant tumor of cervix Cervical Tumor BEFREE 31081073
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Neoplasms Uterine neoplasm Pubtator 31081073 Associate
★☆☆☆☆
Found in Text Mining only