C1QTNF12 (CTRP12) Gene: Structure, Function, and Clinical Significance
A comprehensive biomedical overview of the C1QTNF12 gene, encoding complement C1q tumor necrosis factor-related protein 12, with emphasis on its metabolic roles and disease associations.
Gene Information Card
| Symbol | C1QTNF12 |
|---|---|
| Full Name | complement C1q tumor necrosis factor-related protein 12 |
| Gene Type | protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 114900 ncbi.nlm.nih.gov/gene/114900 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q5VXD3 |
| OMIM ID | 616461 |
| HGNC ID | 26657 |
| Aliases | CTRP12, FAM132A |
Description
C1QTNF12 (also known as CTRP12) encodes a secreted adipokine belonging to the C1q/tumor necrosis factor-related protein (CTRP) family. The protein is primarily expressed in adipose tissue and liver, and it plays a role in glucose metabolism by enhancing insulin sensitivity and promoting glucose uptake. It is also involved in anti-inflammatory responses and has been implicated in metabolic disorders such as type 2 diabetes and obesity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 Diabetes | Reduced C1QTNF12 expression in adipose tissue is associated with insulin resistance; the protein enhances insulin signaling via Akt phosphorylation. | Association studies in human cohorts; functional studies in cell lines and animal models (PMID: 25022809) |
| Obesity | Circulating CTRP12 levels are inversely correlated with body mass index and adiposity; obesity downregulates C1QTNF12 expression in adipose tissue. | Clinical correlation studies; mouse models of diet-induced obesity (PMID: 23028049) |
| Non-alcoholic Fatty Liver Disease (NAFLD) | C1QTNF12 may modulate hepatic lipid metabolism; lower expression is observed in NAFLD patients, suggesting a protective role. | Gene expression analysis in liver biopsies; animal models (PMID: 27634398) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose Tissue | Not available | High (based on RNA-seq data from GTEx, but nTPM not specified) |
| Liver | Not available | Moderate |
| Skeletal Muscle | Not available | Low |
| Heart | Not available | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Adipocytes (differentiated) | Not available | High expression; secreted protein |
| HepG2 (liver cancer cell line) | Not available | Moderate expression |
| C2C12 (myoblast) | Not available | Low expression; increases upon differentiation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs61752717 (missense, p.Arg92Gln) | Missense | Minor allele frequency ~0.02 (gnomAD) | Unknown; predicted benign by in silico tools |
| rs143634282 (missense, p.Val118Met) | Missense | Minor allele frequency ~0.01 | Unknown; not reported in ClinVar |
| No common pathogenic variants reported | N/A | N/A | No disease-causing mutations curated in ClinVar or COSMIC as of 2023 |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized in human disease; knockout mouse models show impaired glucose tolerance and insulin resistance, indicating that loss of C1QTNF12 function contributes to metabolic dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported; overexpression in animal models improves insulin sensitivity, suggesting potential therapeutic benefit.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • extracellular region (GO:0005576) |
| • extracellular space (GO:0005615) | • inflammatory response (GO:0006954) |
| • glucose homeostasis (GO:0042593) | • antigen processing and presentation of peptide antigen via MHC class II (GO:0048003) |
Pathways
• Insulin signaling pathway (via Akt phosphorylation)
• AMPK signaling pathway (activation in muscle and liver)
• Adipocytokine signaling pathway
Protein Summary
C1QTNF12 is a secreted protein of 293 amino acids (precursor) with a signal peptide, a collagen-like domain, and a C1q globular domain. It forms trimers and higher-order oligomers. The protein is cleaved to release a bioactive fragment. It binds to adiponectin receptors (AdipoR1/R2) and activates AMPK and Akt pathways, enhancing insulin sensitivity and glucose uptake. It also exerts anti-inflammatory effects by suppressing NF-kB signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C1QTNF12 Knockout HEK293 Cell Line | EDJ-KQ12601 | Human | 388581 | Details Get a Quote |
| C1QTNF12 Knockout HCT 116 Cell Line | EDJ-KQ41644 | Human | 388581 | Details Get a Quote |
| C1QTNF12 Knockout HeLa Cell Line | EDJ-KQ60034 | Human | 388581 | Details Get a Quote |
| C1QTNF12 Knockout A-549 Cell Line | EDJ-KQ68496 | Human | 388581 | Details Get a Quote |
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