Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyaluronan-binding protein 2

The protein product of the HABP2 gene is a protease, which activates pro-urokinase. A common polymorphism is associated with susceptibility to carotid stenosis and venous thromboembolism. Also mutations are supposed to cause non-medullary thyroid cancer 5.

Gene Structure

The HABP2 gene spans about 36,5kb on chromosome 10 (10q25-q26). Three splice variants are known. The largest consists of 13 exons.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Thromboembolic diseases
Autosomal dominant protein C deficiency
PROC
Autosomal dominant protein S deficiency
PROS1
Autosomal recessive protein C deficiency
PROC
Autosomal recessive protein S deficiency
PROS1
F2
F5
Factor XII deficiency
F12
HABP2
Hyperhomocysteinemic thrombosis
CBS
Hypoplasminogenemia
Dysplasminogenemia
PLG
Hypoplasminogenemia
PLG
MTHFR
PAI transcription modulator
SERPINE1
Protein Z deficiency
PROZ
SERPINA10
SERPINC1
THBD
Thrombophilia due to heparin cofactor 2 deficiency
SERPIND1
VKORC1
Arteriosclerosis
APOB
APOE
HABP2
LDLR
LPA
MTHFR
PON1
SLC3A1
Non-medullary thyroid cancer 5
HABP2

References:

1.

Kannemeier C et al. (2001) Factor VII and single-chain plasminogen activator-activating protease: activation and autoactivation of the proenzyme.

[^]
2.

None (2003) Factor VII-activating protease: coagulation, fibrinolysis, and atherothrombosis?

[^]
3.

Willeit J et al. (2003) Marburg I polymorphism of factor VII--activating protease: a prominent risk predictor of carotid stenosis.

[^]
4.

Hoppe B et al. (2005) Marburg I polymorphism of factor VII-activating protease is associated with idiopathic venous thromboembolism.

[^]
5.

Nakazawa F et al. (2005) Extracellular RNA is a natural cofactor for the (auto-)activation of Factor VII-activating protease (FSAP).

[^]
6.

van Minkelen R et al. (2005) The Marburg I polymorphism of factor VII-activating protease is not associated with venous thrombosis.

[^]
7.

Altincicek B et al. (2006) A positively charged cluster in the epidermal growth factor-like domain of Factor VII-activating protease (FSAP) is essential for polyanion binding.

[^]
8.

Franchi F et al. (2006) Marburg I polymorphism of factor VII-activating protease and risk of venous thromboembolism.

[^]
9.

Orphanet article

Orphanet ID 437465 [^]
10.

NCBI article

NCBI 3026 [^]
11.

OMIM.ORG article

Omim 603924 [^]
12.

Wikipedia article

Wikipedia EN (HABP2) [^]
Update: April 29, 2019