SERPIND1 wt Allele

Preferred Label : SERPIND1 wt Allele;

NCIt synonyms : HC2; Serine (Or Cysteine) Proteinase Inhibitor, Clade D (Heparin Cofactor), Member 1 Gene; HCII; Serpin Peptidase Inhibitor, Clade D (Heparin Cofactor), Member 1 wt Allele; HLS2; D22S673; HCF2; LS2; THPH10;

NCIt definition : Human SERPIND1 wild-type allele is located in the vicinity of 22q11.21 and is approximately 14 kb in length. This allele, which encodes heparin cofactor 2 protein, is involved in heparin-dependent inhibition of thrombin. Mutation of the gene is associated with thrombophilia due to heparin cofactor 2 deficiency.;

GenBank Accession Number : M12849;

Details

Origin ID

C113636;

UMLS CUI

C3810551;

Automatic exact mappings (from CISMeF team)
- Heparin cofactor II [OMIM gene]
- Heparin cofactor II deficiency [OMIM Phenotype]
- Host cell factor c2 [OMIM gene]
- Hydrolethalus syndrome 2 [OMIM Phenotype]
- Proteasome subunit, alpha-type, 1 [OMIM gene]
- heparin cofactor II deficiency [DO Concept]
- hydrolethalus syndrome 2 [DO Concept]
OMIM relation
- Heparin cofactor II [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q11.21 [NCIt concept]
gene_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
gene_plays_role_in_process
- Coagulation Process [NCIt concept]
- Enzyme Inhibition [NCIt concept]
- Heparin Binding [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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