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Aliases for SERPIND1 Gene

Aliases for SERPIND1 Gene

  • Serpin Peptidase Inhibitor, Clade D (Heparin Cofactor), Member 1 2 3
  • HCF2 3 4 6
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade D (Heparin Cofactor), Member 1 2 3
  • Protease Inhibitor Leuserpin-2 3 4
  • Heparin Cofactor II 2 4
  • Serpin D1 3 4
  • THPH10 3 6
  • HLS2 3 4
  • HC2 3 6
  • Heparin Cofactor 2 3
  • Leuserpin 2 3
  • D22S673 3
  • HC-II 4
  • HCII 3
  • LS2 3

External Ids for SERPIND1 Gene

Previous Symbols for SERPIND1 Gene

  • HCF2

Summaries for SERPIND1 Gene

Entrez Gene Summary for SERPIND1 Gene

  • 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 III and other members of the alpha 1-antitrypsin superfamily. Mutations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2008]

GeneCards Summary for SERPIND1 Gene

SERPIND1 (Serpin Peptidase Inhibitor, Clade D (Heparin Cofactor), Member 1) is a Protein Coding gene. Diseases associated with SERPIND1 include thrombophilia due to heparin cofactor ii deficiency and dysfibrinogenemia. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades. GO annotations related to this gene include heparin binding and endopeptidase inhibitor activity. An important paralog of this gene is SERPINA10.

UniProtKB/Swiss-Prot for SERPIND1 Gene

  • 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.

Gene Wiki entry for SERPIND1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPIND1 Gene

Genomics for SERPIND1 Gene

Genomic Location for SERPIND1 Gene

Start:
20,773,879 bp from pter
End:
20,787,720 bp from pter
Size:
13,842 bases
Orientation:
Plus strand

Genomic View for SERPIND1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SERPIND1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERPIND1 Gene

Proteins for SERPIND1 Gene

  • Protein details for SERPIND1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05546-HEP2_HUMAN
    Recommended name:
    Heparin cofactor 2
    Protein Accession:
    P05546
    Secondary Accessions:
    • B2RAI1
    • D3DX34
    • Q6IBZ5

    Protein attributes for SERPIND1 Gene

    Size:
    499 amino acids
    Molecular mass:
    57071 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAG30459.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SERPIND1 Gene

neXtProt entry for SERPIND1 Gene

Proteomics data for SERPIND1 Gene at MOPED

Post-translational modifications for SERPIND1 Gene

  • Phosphorylation sites are present in the extracellular medium
  • Glycosylation at Asn49, Asn188, and Asn387

Other Protein References for SERPIND1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SERPIND1 Gene

Domains for SERPIND1 Gene

Gene Families for SERPIND1 Gene

HGNC:
  • SERPIN :Serine (or cysteine) peptidase inhibitors

Protein Domains for SERPIND1 Gene

UniProtKB/Swiss-Prot:

HEP2_HUMAN
Domain:
  • The N-terminal acidic repeat region mediates, in part, the glycosaminoglycan-accelerated thrombin inhibition:
    • P05546
Family:
  • Belongs to the serpin family.:
    • P05546
genes like me logo Genes that share domains with SERPIND1: view

Function for SERPIND1 Gene

Molecular function for SERPIND1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function: Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils.

Gene Ontology (GO) - Molecular Function for SERPIND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity TAS 2647747
GO:0004867 serine-type endopeptidase inhibitor activity IBA --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with SERPIND1: view
genes like me logo Genes that share phenotypes with SERPIND1: view

Animal Models for SERPIND1 Gene

MGI Knock Outs for SERPIND1:

miRNA for SERPIND1 Gene

miRTarBase miRNAs that target SERPIND1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SERPIND1 Gene

Localization for SERPIND1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SERPIND1 Gene COMPARTMENTS Subcellular localization image for SERPIND1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SERPIND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with SERPIND1: view

Pathways for SERPIND1 Gene

genes like me logo Genes that share pathways with SERPIND1: view

Pathways by source for SERPIND1 Gene

1 R&D Systems pathway for SERPIND1 Gene
1 BioSystems pathway for SERPIND1 Gene
1 KEGG pathway for SERPIND1 Gene

Gene Ontology (GO) - Biological Process for SERPIND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006935 chemotaxis IEA --
GO:0007596 blood coagulation TAS --
GO:0010951 negative regulation of endopeptidase activity IBA --
GO:0030162 regulation of proteolysis --
genes like me logo Genes that share ontologies with SERPIND1: view

Compounds for SERPIND1 Gene

(1) HMDB Compounds for SERPIND1 Gene

Compound Synonyms Cas Number PubMed IDs
Heparin
  • Arteven
9005-49-6

(3) Drugbank Compounds for SERPIND1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-D-Mannose
3458-28-4 target
Ardeparin
target agonist
Sulodexide
57821-29-1 target agonist

(5) Novoseek inferred chemical compound relationships for SERPIND1 Gene

Compound -log(P) Hits PubMed IDs
dermatan sulfate 85.8 18
heparin 78.6 51
glycosaminoglycan 63.3 4
serine 36 5
fibrinogen 9.25 3
genes like me logo Genes that share compounds with SERPIND1: view

Transcripts for SERPIND1 Gene

mRNA/cDNA for SERPIND1 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(122) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SERPIND1 Gene

Serpin peptidase inhibitor, clade D (heparin cofactor), member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SERPIND1 Gene

No ASD Table

Relevant External Links for SERPIND1 Gene

GeneLoc Exon Structure for
SERPIND1
ECgene alternative splicing isoforms for
SERPIND1

Expression for SERPIND1 Gene

mRNA expression in normal human tissues for SERPIND1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SERPIND1 Gene

This gene is overexpressed in Liver (48.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SERPIND1 Gene

SOURCE GeneReport for Unigene cluster for SERPIND1 Gene Hs.474270

mRNA Expression by UniProt/SwissProt for SERPIND1 Gene

P05546-HEP2_HUMAN
Tissue specificity: Expressed predominantly in liver. Also present in plasma
genes like me logo Genes that share expressions with SERPIND1: view

Orthologs for SERPIND1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPIND1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SERPIND1 36
  • 99.53 (n)
  • 99.8 (a)
SERPIND1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SERPIND1 36
  • 74.82 (n)
  • 71.73 (a)
SERPIND1 37
  • 70 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SERPIND1 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Serpind1 36
  • 83.4 (n)
  • 85.56 (a)
Serpind1 16
Serpind1 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SERPIND1 37
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Serpind1 36
  • 82.46 (n)
  • 85.59 (a)
chicken
(Gallus gallus)
Aves SERPIND1 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERPIND1 37
  • 67 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii serpind1 37
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Spn27A 37
  • 21 (a)
ManyToMany
Spn5 37
  • 23 (a)
ManyToMany
Spn88Eb 37
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 19 (a)
ManyToMany
CSA.10120 37
  • 23 (a)
ManyToMany
Species with no ortholog for SERPIND1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SERPIND1 Gene

ENSEMBL:
Gene Tree for SERPIND1 (if available)
TreeFam:
Gene Tree for SERPIND1 (if available)

Paralogs for SERPIND1 Gene

genes like me logo Genes that share paralogs with SERPIND1: view

Variants for SERPIND1 Gene

Sequence variations from dbSNP and Humsavar for SERPIND1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
VAR_007112 Thrombophilia due to heparin cofactor 2 deficiency (THPH10)
VAR_011746 -
VAR_011747 -
VAR_011748 -
VAR_011749 -

Structural Variations from Database of Genomic Variants (DGV) for SERPIND1 Gene

Variant ID Type Subtype PubMed ID
nsv436864 CNV Insertion 17901297
nsv914390 CNV Gain 21882294
nsv523162 CNV Loss 19592680
esv2678175 CNV Deletion 23128226
nsv914418 CNV Gain 21882294
nsv834140 CNV Loss 17160897

Relevant External Links for SERPIND1 Gene

HapMap Linkage Disequilibrium report
SERPIND1
Human Gene Mutation Database (HGMD)
SERPIND1

Disorders for SERPIND1 Gene

(1) OMIM Diseases for SERPIND1 Gene (142360)

UniProtKB/Swiss-Prot

HEP2_HUMAN
  • Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]: A hemostatic disorder characterized by a tendency to recurrent thrombosis. {ECO:0000269 PubMed:10391209, ECO:0000269 PubMed:11204559, ECO:0000269 PubMed:15337701, ECO:0000269 PubMed:2647747}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) Novoseek inferred disease relationships for SERPIND1 Gene

Disease -log(P) Hits PubMed IDs
dysfibrinogenemia 83.1 4
thrombophilia 43.2 1
thromboembolism 29.6 1
cerebral infarction 24.7 1
bleeding 0.748 1

Relevant External Links for SERPIND1

Genetic Association Database (GAD)
SERPIND1
Human Genome Epidemiology (HuGE) Navigator
SERPIND1
genes like me logo Genes that share disorders with SERPIND1: view

Publications for SERPIND1 Gene

  1. Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11. (PMID: 1671335) Herzog R. … Tollefsen D.M. (Biochemistry 1991) 2 3 4 23
  2. The N-terminal acidic domain of heparin cofactor II mediates the inhibition of alpha-thrombin in the presence of glycosaminoglycans. (PMID: 1939083) van Deerlin V.M.D. … Tollefsen D.M. (J. Biol. Chem. 1991) 3 4 23
  3. Altering heparin cofactor II at VAL439 (P6) either impairs inhibition of thrombin or confers elastase resistance. (PMID: 12152684) Cunningham M.A. … Sheffield W.P. (Thromb. Haemost. 2002) 3 23
  4. Plasma levels of heparin cofactor II (HCII) and thrombin-HCII complex in patients with disseminated intravascular coagulation. (PMID: 12361205) Noda A. … Shiku H. (Clin. Appl. Thromb. Hemost. 2002) 3 23
  5. Molecular mapping of the thrombin-heparin cofactor II complex. (PMID: 15292227) Fortenberry Y.M. … Church F.C. (J. Biol. Chem. 2004) 3 23

Products for SERPIND1 Gene

Sources for SERPIND1 Gene

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