RBCC Red Blood Cell Collection

HEP2_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: SERPIND1 , HCF2
Protein names and data: HEP2_HUMAN , Heparin cofactor 2 , Heparin cofactor II; HC-II; Protease inhibitor leuserpin-2; HLS2; Serpin D1; Flags: Precursor Lenght: 499 a.a.
Mass: 57071 Da
fasta formatted sequence
Function: 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. Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils.
Disease: ( OMIM: 142360 612356 ) Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]: A hemostatic disorder characterized by a tendency to recurrent thrombosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity: Expressed predominantly in liver. Also present in plasma.

Genetic variants

7 - 7 A -> T (in dbSNP:rs5905). VAR_011746 5905
60 - 60 H -> P (in dbSNP:rs165867). VAR_011747 165867
87 - 87 S -> N (in dbSNP:rs34324685). VAR_051953 34324685
129 - 129 L -> V (in dbSNP:rs11542069). VAR_051954 11542069
208 - 208 R -> H (in THPH10; Oslo; decreased affinity for dermatan sulfate; dbSNP:rs5907). VAR_007112 5907
237 - 237 K -> R (in dbSNP:rs1042435). VAR_011748 1042435
442 - 442 T -> M (in dbSNP:rs5904). VAR_011749 5904
447 - 447 E -> K (in THPH10). VAR_054977
462 - 462 P -> L (in THPH10; Tokushima; impaired secretion of the mutant molecules). VAR_054978

Database cross-references

UniProt: P05546
Ensembl: ENST00000215727
Ensembl: ENST00000406799
MIM: 142360
MIM: 612356
neXtProt: NX_P05546
Antibodypedia: P05546 (may not find the protein thus also not any antibody)
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