ADTRP: Androgen-Dependent TFPI-Regulating Protein
Gene encoding a serine protease that regulates tissue factor pathway inhibitor (TFPI) and influences coagulation and vascular biology.
Gene Information Card
| Symbol | ADTRP |
|---|---|
| Full Name | Androgen-Dependent TFPI-Regulating Protein |
| Gene Type | Protein-coding |
| Chromosomal Location | 6p24.3 |
| NCBI Gene ID | 84830 ncbi.nlm.nih.gov/gene/84830 |
| Ensembl ID | ENSG00000111837 |
| UniProt ID | Q9BQ69 |
| OMIM ID | 615856 |
| HGNC ID | 26495 |
| Aliases | C6orf105, dJ283E3.1, FLJ22662 |
Description
ADTRP (androgen-dependent TFPI-regulating protein) encodes a serine protease that regulates tissue factor pathway inhibitor (TFPI) activity. It is involved in coagulation, vascular remodeling, and androgen signaling. The gene is located on chromosome 6p24.3 and is expressed in multiple tissues, with highest levels in the heart and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coronary artery disease | ADTRP variants may alter TFPI regulation, affecting coagulation and atherosclerosis risk. | GWAS studies (PMID: 21378988) |
| Myocardial infarction | Dysregulation of TFPI via ADTRP can promote thrombotic events. | Association studies (ClinVar) |
| Venous thromboembolism | Impaired TFPI regulation leads to hypercoagulable state. | Case-control studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 3.8 | Low |
| Lung | 2.1 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 8.3 | Endothelial cells |
| HEK293 | 4.7 | Embryonic kidney |
| HepG2 | 2.9 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Unknown |
| c.214C>T | Nonsense | 0.005% | Loss of function |
| c.487G>A | Missense | 0.02% | Reduced TFPI regulation |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.214C>T) lead to premature stop codon and truncated protein.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004252 – serine-type endopeptidase activity | • GO:0005576 – extracellular region |
| • GO:0005615 – extracellular space | • GO:0006508 – proteolysis |
| • GO:0010951 – negative regulation of endopeptidase activity | • GO:0030193 – regulation of blood coagulation |
Pathways
• Complement and coagulation cascades (KEGG: hsa04610)
• TFPI regulation pathway
Protein Summary
ADTRP is a secreted serine protease that cleaves and regulates tissue factor pathway inhibitor (TFPI), thereby modulating the extrinsic coagulation cascade. It is expressed in endothelial cells and tissues with high metabolic demand. The protein contains a signal peptide and a trypsin-like serine protease domain. Its activity is influenced by androgens, linking hormonal signaling to hemostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADTRP Knockout HEK293 Cell Line | EDJ-KQ10214 | Human | 84830 | Details Get a Quote |
| ADTRP Knockout HeLa Cell Line | EDJ-KQ37372 | Human | 84830 | Details Get a Quote |
| ADTRP Knockout A-549 Cell Line | EDJ-KQ66166 | Human | 84830 | Details Get a Quote |
| ADTRP Knockout HCT 116 Cell Line | EDJ-KQ74592 | Human | 84830 | Details Get a Quote |
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