DISEASES

Disease-gene associations mined from literature

Literature associating HABP2 and thrombophilia due to thrombin defect

HABP2 [ENSP00000277903]

Hyaluronan-binding protein 2 27 kDa light chain alternate form; Cleaves the alpha-chain at multiple sites and the beta-chain between 'Lys-53' and 'Lys-54' but not the gamma-chain of fibrinogen and therefore does not initiate the formation of the fibrin clot and does not cause the fibrinolysis directly. It does not cleave (activate) prothrombin and plasminogen but converts the inactive single chain urinary plasminogen activator (pro-urokinase) to the active two chain form. Activates coagulation factor VII (PubMed:8827452, PubMed:10754382, PubMed:11217080). May function as a tumor suppressor negatively regulating cell proliferation and cell migration . ECO:0000269|PubMed:11217080, ECO:0000269|PubMed:26222560,

Synonyms:  HABP2,  HABP2p,  hHABP2,  Q14520,  Q14520p ...

Linkouts:  STRING  Pharos  UniProt  OMIM