CCDC92 (Coiled-Coil Domain Containing 92): Genetics, Expression, and Clinical Significance
A comprehensive biomedical overview of CCDC92, including gene structure, expression patterns, disease associations, and functional annotations.
Gene Information Card
| Symbol | CCDC92 |
|---|---|
| Full Name | Coiled-coil domain containing 92 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 80212 ncbi.nlm.nih.gov/gene/80212 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q53HC0 |
| OMIM ID | 616504 |
| HGNC ID | 28335 |
| Aliases | FLJ20097, MGC131944 |
Description
CCDC92 encodes a protein containing coiled-coil domains, which are structural motifs involved in protein-protein interactions. The gene is located on chromosome 12q24.31 and is expressed in various tissues. While its full biological function is not completely characterized, studies have implicated CCDC92 in lipid metabolism, insulin resistance, and potential roles in cancer and cardiovascular disease. The protein is predicted to be involved in cellular signaling and structural organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Associated with insulin resistance and altered lipid metabolism; CCDC92 variants may influence metabolic traits. | GWAS studies (e.g., Liu et al., 2018) and functional studies in adipocytes. |
| Coronary Artery Disease | Genetic variants in CCDC92 have been linked to lipid profiles and cardiovascular risk. | Meta-analyses of GWAS data (e.g., CARDIoGRAMplusC4D). |
| Obesity | Expression changes in adipose tissue may contribute to adipocyte dysfunction. | Expression quantitative trait loci (eQTL) studies. |
| Cancer (potential) | Altered expression in certain tumors suggests a possible role in oncogenesis, but evidence is preliminary. | Expression profiling in cancer cell lines and tissues (e.g., COSMIC). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose Tissue | ~20 | Medium |
| Liver | ~15 | Medium |
| Skeletal Muscle | ~10 | Low |
| Kidney | ~8 | Low |
| Brain | ~5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | ~18 | Moderate expression |
| 3T3-L1 (adipocyte precursor) | ~25 | High expression during differentiation |
| MCF7 (breast cancer) | ~12 | Moderate expression |
| A549 (lung cancer) | ~8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3744763 | SNV (intronic) | ~0.30 (global) | Associated with lipid traits in GWAS. |
| rs7134594 | SNV (intronic) | ~0.25 | Linked to insulin resistance. |
| c.502C>T (p.Arg168Trp) | Missense | Rare (<0.01) | Potential functional impact; not well characterized. |
| c.1000G>A (p.Val334Ile) | Missense | Rare (<0.01) | Unknown significance. |
Mutation functional classification
Loss of Function (LOF)
No clear loss-of-function mutations have been reported; knockdown studies in adipocytes suggest reduced lipid accumulation, but no pathogenic variants are documented.
Gain of Function (GOF)
No evidence for gain-of-function mutations in CCDC92.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • nucleus (GO:0005634) |
| • mitochondrion (GO:0005739) |
Pathways
• Lipid metabolism and adipogenesis (inferred from expression and functional studies)
• Insulin signaling (potential involvement in insulin resistance)
• Cytoskeletal organization (coiled-coil domain mediated interactions)
Protein Summary
The CCDC92 protein is a coiled-coil domain-containing protein of approximately 50 kDa. It is predicted to localize to the cytoplasm and nucleus, and may interact with other proteins via its coiled-coil domains. Functional studies suggest a role in lipid droplet formation and adipocyte differentiation. The protein is expressed in multiple tissues, with higher levels in adipose tissue and liver. Its precise molecular function remains under investigation, but it may act as a scaffold or regulatory protein in metabolic pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC92 Knockout HEK293 Cell Line | EDJ-KQ9489 | Human | 80212 | Details Get a Quote |
| CCDC92B Knockout HEK293 Cell Line | EDJ-KQ12772 | Human | 101928991 | Details Get a Quote |
| CCDC92 Knockout A-549 Cell Line | EDJ-KQ36216 | Human | 80212 | Details Get a Quote |
| CCDC92 Knockout HCT 116 Cell Line | EDJ-KQ36217 | Human | 80212 | Details Get a Quote |
| CCDC92 Knockout HeLa Cell Line | EDJ-KQ36218 | Human | 80212 | Details Get a Quote |
| CCDC92B Knockout A-549 Cell Line | EDJ-KQ40638 | Human | 101928991 | Details Get a Quote |
| CCDC92B Knockout HCT 116 Cell Line | EDJ-KQ41903 | Human | 101928991 | Details Get a Quote |
| CCDC92B Knockout HeLa Cell Line | EDJ-KQ41904 | Human | 101928991 | Details Get a Quote |
