C1QTNF3 Gene - Complement C1q Tumor Necrosis Factor-Related Protein 3
Comprehensive genomic and functional analysis of C1QTNF3, a member of the C1q/TNF superfamily involved in metabolic and inflammatory regulation.
Gene Information Card
| Symbol | C1QTNF3 |
|---|---|
| Full Name | Complement C1q Tumor Necrosis Factor-Related Protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p13.2 |
| NCBI Gene ID | 114899 ncbi.nlm.nih.gov/gene/114899 |
| Ensembl ID | ENSG00000113520 |
| UniProt ID | Q9BXJ4 |
| OMIM ID | 614421 |
| HGNC ID | 14343 |
| Aliases | CTRP3, CORS26, CTRP3A, CTRP3B |
Description
C1QTNF3 (Complement C1q Tumor Necrosis Factor-Related Protein 3), also known as CTRP3, is a member of the C1q/TNF superfamily. It encodes a secreted adipokine involved in glucose and lipid metabolism, insulin sensitivity, and inflammatory responses. The gene is located on chromosome 5p13.2 and produces multiple isoforms through alternative splicing. C1QTNF3 is expressed in adipose tissue, liver, muscle, and other metabolic organs, and its dysregulation is linked to obesity, type 2 diabetes, and cardiovascular disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Reduced C1QTNF3 expression in adipose tissue contributes to insulin resistance and chronic low-grade inflammation. | PMID: 22960657 |
| Type 2 Diabetes | Lower circulating CTRP3 levels correlate with impaired glucose tolerance and insulin resistance. | PMID: 23793252 |
| Cardiovascular Disease | CTRP3 exerts anti-inflammatory and anti-atherogenic effects; decreased levels are associated with coronary artery disease. | PMID: 25287287 |
| Non-Alcoholic Fatty Liver Disease (NAFLD) | CTRP3 deficiency exacerbates hepatic steatosis and inflammation in mouse models. | PMID: 27864391 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Low |
| Skeletal muscle | 6.1 | Low |
| Heart | 4.7 | Low |
| Kidney | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 5.4 | Hepatocellular carcinoma cell line |
| 3T3-L1 (adipocyte) | 15.2 | Differentiated adipocytes |
| C2C12 (myoblast) | 4.1 | Mouse skeletal muscle cell line |
| THP-1 (monocyte) | 2.8 | Human monocytic leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.331C>T (p.Arg111Cys) | Missense | <0.01% | Unknown functional effect; rare variant in population databases |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Predicted benign by in silico tools |
| c.602_604del (p.Glu201del) | In-frame deletion | <0.01% | May affect protein stability |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in C1QTNF3.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Adipocytokine signaling pathway (KEGG: hsa04920)
• AMPK signaling pathway (KEGG: hsa04152)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
C1QTNF3 encodes CTRP3, a secreted protein of 246 amino acids (isoform 1) with a collagen-like domain and a C-terminal C1q globular domain. The protein forms homotrimers and higher-order oligomers. CTRP3 functions as an adipokine that enhances insulin sensitivity, promotes glucose uptake in adipocytes and myocytes, and suppresses hepatic gluconeogenesis. It also exhibits anti-inflammatory properties by inhibiting NF-κB signaling and reducing pro-inflammatory cytokine production. CTRP3 is implicated in metabolic homeostasis and cardiovascular protection.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C1QTNF3 Knockout HEK293 Cell Line | EDJ-KQ7489 | Human | 114899 | Details Get a Quote |
| C1QTNF3 Knockout HCT 116 Cell Line | EDJ-KQ32731 | Human | 114899 | Details Get a Quote |
| C1QTNF3 Knockout HeLa Cell Line | EDJ-KQ32732 | Human | 114899 | Details Get a Quote |
| C1QTNF3 Knockout A-549 Cell Line | EDJ-KQ66430 | Human | 114899 | Details Get a Quote |
