HABP2
Hyaluronan Binding Protein 2
Gene Information Card
| Symbol | HABP2 |
|---|---|
| Full Name | hyaluronan binding protein 2 |
| Gene Type | protein coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 3026 ncbi.nlm.nih.gov/gene/3026 |
| Ensembl ID | ENSG00000148702 |
| UniProt ID | Q14520 |
| OMIM ID | 603924 |
| HGNC ID | 4798 |
| Aliases | FSAP, HGFAL, PHBP, HABP-2 |
Description
HABP2 encodes hyaluronan binding protein 2, also known as factor VII activating protease (FSAP). This serine protease is involved in hemostasis, fibrinolysis, and extracellular matrix remodeling. It activates factor VII and cleaves hyaluronan, contributing to coagulation and cell migration. Mutations in HABP2 have been associated with familial nonmedullary thyroid cancer and venous thromboembolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial nonmedullary thyroid cancer (FNMTC) | Germline missense mutation (G534E) in HABP2 is proposed to impair tumor suppressor function, leading to increased cell proliferation and invasion. | Gara et al. (2015) PMID: 26482880; ClinVar |
| Venous thromboembolism | Reduced FSAP activity due to HABP2 polymorphisms (e.g., Marburg I) may decrease factor VII activation and alter fibrinolysis, increasing thrombosis risk. | Hoppe et al. (2009) PMID: 19106087; ClinVar |
| Carotid stenosis | HABP2 polymorphisms (Marburg I) are associated with increased risk of carotid plaque formation and stroke. | Willeit et al. (2003) PMID: 12817014 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Low |
| Heart | 4.2 | Low |
| Brain | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 9.8 | Embryonic kidney cells |
| A549 | 5.4 | Lung adenocarcinoma cells |
| MCF7 | 2.1 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1601G>A (p.Gly534Glu) | Missense | 0.1% in general population; 4.3% in FNMTC families | Proposed loss of tumor suppressor function; increased cell migration |
| Marburg I (c.1601G>A, p.Gly534Glu) | Missense | ~2% in European populations | Reduced FSAP activity; associated with venous thromboembolism and carotid stenosis |
| c.1484C>T (p.Thr495Met) | Missense | Rare | Unknown functional effect; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
The Marburg I variant (G534E) reduces FSAP proteolytic activity, impairing factor VII activation and hyaluronan cleavage, leading to altered hemostasis and extracellular matrix remodeling.
Gain of Function (GOF)
No gain-of-function mutations are currently documented in HABP2.
Dominant Negative (DN)
The G534E variant may exert a dominant-negative effect by forming inactive dimers with wild-type FSAP, reducing overall enzymatic activity.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Complement and coagulation cascades (KEGG hsa04610)
• Extracellular matrix organization (Reactome R-HSA-1474244)
• Formation of Fibrin Clot (Clotting Cascade) (Reactome R-HSA-140877)
Protein Summary
HABP2 encodes a 560-amino acid serine protease (FSAP) with a signal peptide, EGF-like domain, kringle domain, and trypsin-like serine protease domain. It is secreted primarily by the liver and circulates in plasma as a single-chain zymogen. Activation occurs via proteolytic cleavage, generating a two-chain active form. FSAP activates coagulation factor VII and cleaves hyaluronan, influencing hemostasis, fibrinolysis, and cell migration. The Marburg I variant (G534E) reduces enzymatic activity and is linked to thrombosis and carotid atherosclerosis. Germline G534E mutations are also implicated in familial nonmedullary thyroid cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HABP2 Knockout HEK293 Cell Line | EDJ-KQ4836 | Human | 3026 | Details Get a Quote |
| HABP2 Knockout HeLa Cell Line | EDJ-KQ53488 | Human | 3026 | Details Get a Quote |
| HABP2 Knockout A-549 Cell Line | EDJ-KQ61960 | Human | 3026 | Details Get a Quote |
| HABP2 Knockout HCT 116 Cell Line | EDJ-KQ70441 | Human | 3026 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
