Heparin cofactor II

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SERPIND1
Protein SERPIND1 PDB 1jmj.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSERPIND1, D22S673, HC2, HCF2, HCII, HLS2, LS2, THPH10, serpin family D member 1
External IDsOMIM: 142360 MGI: 96051 HomoloGene: 36018 GeneCards: SERPIND1
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for SERPIND1
Genomic location for SERPIND1
Band22q11.21Start20,774,113 bp[1]
End20,787,720 bp[1]
RNA expression pattern
PBB GE SERPIND1 205576 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000185

NM_008223
NM_001331047

RefSeq (protein)

NP_000176

NP_001317976
NP_032249

Location (UCSC)Chr 22: 20.77 – 20.79 MbChr 16: 17.33 – 17.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Heparin cofactor II (HCII), a protein encoded by the SERPIND1 gene, is a coagulation factor that inhibits IIa, and is a cofactor for heparin and dermatan sulfate ("minor antithrombin").[5]

The product encoded by this gene is a serine proteinase inhibitor which rapidly inhibits thrombin in the presence of dermatan sulfate or heparin. The gene contains five exons and four introns. This protein shares homology with antithrombin and other members of the alpha 1-antitrypsin superfamily. Mutations in this gene are associated with heparin cofactor II deficiency.[5]

Heparin Cofactor II deficiency can lead to increased thrombin generation and a hypercoagulable state.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000099937 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022766 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1".

Further reading[edit]

External links[edit]