SERPIND1 gene

serpin family D member 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]

From UniProt:

Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils.

Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner.

From NCBI Gene:

  • Heparin cofactor II deficiency

From UniProt:

Thrombophilia due to heparin cofactor 2 deficiency (THPH10): A hemostatic disorder characterized by a tendency to recurrent thrombosis. [MIM:612356]

Cytogenetic Location: 22q11.21, which is the long (q) arm of chromosome 22 at position 11.21

Molecular Location: base pairs 20,774,095 to 20,787,720 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q11.21, which is the long (q) arm of chromosome 22 at position 11.21
  • D22S673
  • HC2
  • HCF2
  • HCII
  • HLS2
  • LS2
  • THPH10