SERPIND1
Serpin Family D Member 1 (Heparin Cofactor II)
Gene Information Card
| Symbol | SERPIND1 |
|---|---|
| Full Name | Serpin Family D Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 3053 ncbi.nlm.nih.gov/gene/3053 |
| Ensembl ID | ENSG00000100100 |
| UniProt ID | P05546 |
| OMIM ID | 142360 |
| HGNC ID | 1073 |
| Aliases | HCII, HLS2, THPH10, protease inhibitor 1 (heparin cofactor) |
Description
SERPIND1 encodes heparin cofactor II (HCII), a serine protease inhibitor (serpin) that rapidly inhibits thrombin in the presence of dermatan sulfate or heparin. HCII is a key regulator of coagulation, protecting against thrombosis. Mutations in SERPIND1 can cause heparin cofactor II deficiency, associated with thrombophilia and increased risk of venous thromboembolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heparin cofactor II deficiency | Loss-of-function mutations reduce thrombin inhibition, leading to hypercoagulability | ClinVar, OMIM |
| Thrombophilia, hereditary | Deficient HCII activity predisposes to venous thrombosis | OMIM, NCBI |
| Venous thromboembolism | Impaired anticoagulant activity increases clot formation risk | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adipose tissue | 4.2 | Medium |
| Lung | 3.1 | Medium |
| Heart | 2.0 | Low |
| Skeletal muscle | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocyte line, high expression |
| HUVEC | 6.8 | Endothelial cells, moderate |
| THP-1 | 2.1 | Monocytic line, low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1156C>T (p.Arg386*) | Nonsense | <0.1% | Loss of function, truncated protein |
| c.127G>A (p.Glu43Lys) | Missense | <0.1% | Reduced heparin binding and activity |
| c.1321delC | Frameshift | <0.1% | Loss of function, premature stop |
Mutation functional classification
Loss of Function (LOF)
Most SERPIND1 mutations are loss-of-function, reducing HCII activity and increasing thrombosis risk.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; deficiency is typically autosomal dominant with haploinsufficiency.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase inhibitor activity | • heparin binding |
| • blood coagulation | • negative regulation of thrombin activity |
| • extracellular space |
Pathways
• Complement and coagulation cascades (KEGG hsa04610)
• Formation of Fibrin Clot (Clotting Cascade)
Protein Summary
Heparin cofactor II (HCII) is a 480-amino-acid glycoprotein (55 kDa) synthesized primarily in the liver. It circulates in plasma and inhibits thrombin by forming a stable 1:1 complex. Its activity is accelerated >1000-fold by dermatan sulfate or heparin. HCII deficiency (heterozygous) is a mild risk factor for thrombosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERPIND1 Knockout HEK293 Cell Line | EDJ-KQ4849 | Human | 3053 | Details Get a Quote |
| SERPIND1 Knockout HeLa Cell Line | EDJ-KQ53502 | Human | 3053 | Details Get a Quote |
| SERPIND1 Knockout A-549 Cell Line | EDJ-KQ61971 | Human | 3053 | Details Get a Quote |
| SERPIND1 Knockout HCT 116 Cell Line | EDJ-KQ70453 | Human | 3053 | Details Get a Quote |
