HABP2 Chromosome 10
Hyaluronan binding protein 2
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What This Gene Does
This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Kringle domain containing
Locus Type
gene with protein product
Location
10q25.3
Ensembl
ENSG00000148702
Associated Conditions (11)
Factor VII Marburg I Variant Thrombophilia
HABP2-related disorder
Venous thromboembolism
susceptibility to
FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM
THYROID CANCER
NONMEDULLARY
5
SUSCEPTIBILITY TO
Thyroid cancer
nonmedullary
Key Variants
RS113091571
Conflicting classifications of pathogenicity
Factor VII Marburg I Variant Thrombophilia, HABP2-related disorder, Factor VII Marburg I Variant Thrombophilia
Health Risk
RS139478887
Conflicting classifications of pathogenicity
Factor VII Marburg I Variant Thrombophilia, Factor VII Marburg I Variant Thrombophilia
Health Risk
RS142164108
Conflicting classifications of pathogenicity
Factor VII Marburg I Variant Thrombophilia, Factor VII Marburg I Variant Thrombophilia
Health Risk
RS146758495
Conflicting classifications of pathogenicity
Factor VII Marburg I Variant Thrombophilia, Factor VII Marburg I Variant Thrombophilia
Health Risk
RS187029293
Conflicting classifications of pathogenicity
Factor VII Marburg I Variant Thrombophilia, Factor VII Marburg I Variant Thrombophilia
Health Risk
RS7080536
Conflicting classifications of pathogenicity
Venous thromboembolism, susceptibility to, FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113091571 | Health Risk | Conflicting classifications of pathogenicity | Factor VII Marburg I Variant Thrombophilia, HABP2-related disorder, Factor VII Marburg I Variant Thrombophilia |
| RS139478887 | Health Risk | Conflicting classifications of pathogenicity | Factor VII Marburg I Variant Thrombophilia, Factor VII Marburg I Variant Thrombophilia |
| RS142164108 | Health Risk | Conflicting classifications of pathogenicity | Factor VII Marburg I Variant Thrombophilia, Factor VII Marburg I Variant Thrombophilia |
| RS146758495 | Health Risk | Conflicting classifications of pathogenicity | Factor VII Marburg I Variant Thrombophilia, Factor VII Marburg I Variant Thrombophilia |
| RS187029293 | Health Risk | Conflicting classifications of pathogenicity | Factor VII Marburg I Variant Thrombophilia, Factor VII Marburg I Variant Thrombophilia |
| RS7080536 | Health Risk | Conflicting classifications of pathogenicity | Venous thromboembolism, susceptibility to, FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM |