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
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20
Specimen type genomic DNA
Clinic Method Target mutation analysis
Turnaround 5
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
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
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.

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2.

Mann KG et al. (2003) Factor VII-activating protease: coagulation, fibrinolysis, and atherothrombosis?

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3.

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

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4.

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

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5.

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

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6.

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

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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.

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8.

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

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Update: Sept. 26, 2018