Entity Details

Primary name SERPIND1
Entity type gene
Source Source Link

Details

PrimaryID3053
RefseqGeneNG_012076
SymbolSERPIND1
Nameserpin family D member 1
Chromosome22
Location22q11.21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-11-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHEP2_HUMAN

GO terms

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GOName
GO:0004866 endopeptidase inhibitor activity
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0006935 chemotaxis
GO:0007596 blood coagulation
GO:0008201 heparin binding
GO:0010951 negative regulation of endopeptidase activity
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
612356 OMIMThrombophilia due to heparin cofactor 2 deficiency (THPH10)A hemostatic disorder characterized by a tendency to recurrent thrombosis. The disease is caused by variants affecting the gene represented in this entry.