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SERPIND1 Gene(Protein Coding)

Serpin Family D Member 1

GCID:
GC22P020773
GIFtS:
65
Genes Participants
UDN Logo

Aliases for SERPIND1 Gene

Aliases for SERPIND1 Gene

  • Serpin Family D Member 1 2 3
  • Serpin Peptidase Inhibitor, Clade D (Heparin Cofactor), Member 1 2 3 5
  • 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
  • HCF2 3 4
  • HLS2 3 4
  • Heparin Cofactor 2 2
  • Leuserpin 2 3
  • D22S673 3
  • THPH10 3
  • HC-II 4
  • HCII 3
  • HC2 3
  • LS2 3

External Ids for SERPIND1 Gene

Previous HGNC Symbols for SERPIND1 Gene

  • HCF2

Previous GeneCards Identifiers for SERPIND1 Gene

  • GC22P017827
  • GC22P019452
  • GC22P021139
  • GC22P004396

Summaries for SERPIND1 Gene

Entrez Gene Summary for SERPIND1 Gene

  • This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]

GeneCards Summary for SERPIND1 Gene

SERPIND1 (Serpin Family D Member 1) is a Protein Coding gene. Diseases associated with SERPIND1 include Thrombophilia Due To Heparin Cofactor Ii Deficiency and Thrombophilia. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Platelet activation, signaling and aggregation. GO annotations related to this gene include heparin binding and endopeptidase inhibitor activity. An important paralog of this gene is SERPINA11.

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

Products:

  1. Regulatory Element

Regulatory Elements for SERPIND1 Gene

Enhancers for SERPIND1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SERPIND1 on UCSC Golden Path with GeneCards custom track

Promoters for SERPIND1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SERPIND1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SERPIND1 gene promoter:

Genomic Location for SERPIND1 Gene

Chromosome:
22
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

Genes around SERPIND1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPIND1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPIND1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SERPIND1 Gene

Proteins for SERPIND1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for SERPIND1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SERPIND1 Gene

  • Phosphorylated by FAM20C in the extracellular medium.
  • Glycosylation at Asn 49, Asn 188, and Asn 387
  • Modification sites at PhosphoSitePlus

Other Protein References for SERPIND1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for SERPIND1 (Serpin D1/Heparin Cofactor II)

No data available for DME Specific Peptides for SERPIND1 Gene

Domains & Families for SERPIND1 Gene

Gene Families for SERPIND1 Gene

HGNC:

Protein Domains for SERPIND1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SERPIND1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P05546

UniProtKB/Swiss-Prot:

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

Function for SERPIND1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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.

Phenotypes for SERPIND1 Gene

MGI mutant phenotypes for SERPIND1:
inferred from 2 alleles
GenomeRNAi human phenotypes for SERPIND1:
genes like me logo Genes that share phenotypes with SERPIND1: view

Human Phenotype Ontology for SERPIND1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SERPIND1 Gene

MGI Knock Outs for SERPIND1:

Animal Model Products

CRISPR Products

miRNA for SERPIND1 Gene

miRTarBase miRNAs that target SERPIND1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
lysosome 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 --
genes like me logo Genes that share ontologies with SERPIND1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SERPIND1 Gene

Pathways & Interactions for SERPIND1 Gene

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

Pathways by source for SERPIND1 Gene

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

Gene Ontology (GO) - Biological Process for SERPIND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010951 negative regulation of endopeptidase activity TAS 2647747
genes like me logo Genes that share ontologies with SERPIND1: view

No data available for SIGNOR curated interactions for SERPIND1 Gene

Drugs & Compounds for SERPIND1 Gene

Products:

  1. Drug

(4) Drugs for SERPIND1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ardeparin Approved, Withdrawn Pharma binder, Target, agonist 0
Sulodexide Approved, Investigational Pharma activator, Target, agonist 0
Heparin Approved, Investigational Pharma Antagonist 761,246

(4) Additional Compounds for SERPIND1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
 3458-28-4
genes like me logo Genes that share compounds with SERPIND1: view

Transcripts for SERPIND1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues for SERPIND1 Gene

mRNA expression in normal human tissues for SERPIND1 Gene
mRNA expression by BioGPS for SERPIND1 GenemRNA expression by GTEx 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 (x48.8).

Protein differential expression in normal tissues from HIPED for SERPIND1 Gene

This gene is overexpressed in Serum (24.9), Synovial fluid (15.1), Plasma (14.1), and Monocytes (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SERPIND1: view

Protein tissue co-expression partners for SERPIND1 Gene

- Elite partner

Primer Products

Orthologs for SERPIND1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPIND1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia SERPIND1 35
  • 74.82 (n)
  • 71.73 (a)
SERPIND1 36
  • 70 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Serpind1 35
  • 83.4 (n)
  • 85.56 (a)
Serpind1 16
Serpind1 36
  • 85 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia SERPIND1 35
  • 99.53 (n)
  • 99.8 (a)
SERPIND1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Serpind1 35
  • 82.46 (n)
  • 85.59 (a)
dog
(Canis familiaris)
 Mammalia SERPIND1 36
  • 86 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia SERPIND1 36
  • 57 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SERPIND1 36
  • 66 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SERPIND1 36
  • 67 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii serpind1 36
  • 51 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Spn27A 36
  • 21 (a)
 ManyToMany
Spn5 36
  • 23 (a)
 ManyToMany
Spn88Eb 36
  • 23 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 19 (a)
 ManyToMany
CSA.10120 36
  • 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

Paralogs for SERPIND1 Gene

(23) SIMAP similar genes for SERPIND1 Gene using alignment to 2 proteins:

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
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

Variation tolerance for SERPIND1 Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.94; 49.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SERPIND1 Gene

Human Gene Mutation Database (HGMD)
SERPIND1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPIND1 Gene

Disorders for SERPIND1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SERPIND1 Gene - From: OMIM, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thrombophilia due to heparin cofactor ii deficiency
  • thrombophilia due to heparin cofactor 2 deficiency
thrombophilia
  • hypercoagulability state
cervix uteri carcinoma in situ
  • carcinoma in situ of cervix
cervix disease
  • uterine cervical diseases
chronic cervicitis
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SERPIND1

Genetic Association Database (GAD)
SERPIND1
Human Genome Epidemiology (HuGE) Navigator
SERPIND1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SERPIND1
genes like me logo Genes that share disorders with SERPIND1: view

No data available for Genatlas for SERPIND1 Gene

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 67
  2. Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C. … Vasiliou V. (Hum. Genomics 2013) 2 3
  3. Sucrose octasulfate selectively accelerates thrombin inactivation by heparin cofactor II. (PMID: 20053992) Sarilla S. … Verhamme I.M. (J. Biol. Chem. 2010) 3 23
  4. Beta2-glycoprotein I protects thrombin from inhibition by heparin cofactor II: potentiation of this effect in the presence of anti-beta2-glycoprotein I autoantibodies. (PMID: 18383370) Rahgozar S. … Krilis S.A. (Arthritis Rheum. 2008) 3 23
  5. Drugs, their targets and the nature and number of drug targets. (PMID: 17016423) Imming P. … Meyer A. (Nat Rev Drug Discov 2006) 25 26

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