Aliases for SERPIND1 Gene
Aliases for SERPIND1 Gene
External Ids for SERPIND1 Gene
- HGNC: 4838
- Entrez Gene: 3053
- Ensembl: ENSG00000099937
- OMIM: 142360
- UniProtKB: P05546
Previous HGNC Symbols for SERPIND1 Gene
- HCF2
Previous GeneCards Identifiers for SERPIND1 Gene
- GC22P017827
- GC22P019452
- GC22P021139
- GC22P004396
Summaries 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 Heparin Cofactor Ii Deficiency and Cervix Uteri Carcinoma In Situ. Among its related pathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include heparin binding and endopeptidase inhibitor activity. An important paralog of this gene is SERPINA9.
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.
Additional gene information for SERPIND1 Gene
- Monarch Initiative
- Search for SERPIND1 at DataMed
- Search for SERPIND1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERPIND1 Gene
Genomics for SERPIND1 Gene
GeneHancer (GH) Regulatory Elements for SERPIND1 Gene
- Top Transcription factor binding sites by QIAGEN in the SERPIND1 gene promoter:
Regulatory Element Products
Genomic Locations for SERPIND1 Gene
- chr22:20,773,879-20,787,720
- (GRCh38/hg38)
- Size:
- 13,842 bases
- Orientation:
- Plus strand
- chr22:21,128,167-21,142,008
- (GRCh37/hg19)
Genomic View for SERPIND1 Gene
- Cytogenetic band:
-
- 22q11.21 by Ensembl
- 22q11.21 by Entrez Gene
- 22q11.21 by HGNC


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
- 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; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for SERPIND1 Gene
Post-translational modifications for SERPIND1 Gene
- Phosphorylated by FAM20C in the extracellular medium.
- Glycosylation at isoforms=49, isoforms=188, and posLast=387387
Other Protein References for SERPIND1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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Protein Products
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ProSci Proteins for SERPIND1
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Abcam proteins for SERPIND1
Assay Products
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Cloud-Clone Corp. Assay Kits for SERPIND1
No data available for DME Specific Peptides for SERPIND1 Gene
Domains & Families for SERPIND1 Gene
Gene Families for SERPIND1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Candidate cardiovascular disease genes
- Disease related genes
- FDA approved drug targets
- Plasma proteins
- Predicted secreted proteins
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
P05546UniProtKB/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.
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.
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 | -- |
GO:0030414 | peptidase inhibitor activity | IEA | -- |
Phenotypes for SERPIND1 Gene
- MGI mutant phenotypes for SERPIND1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SERPIND1:
Animal Model Products
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miRNA for SERPIND1 Gene
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Inhibitory RNA Products
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Clone Products
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Cell Line Products
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for SERPIND1 Gene
Localization for SERPIND1 Gene
- Vesicles (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS,IDA | -- |
GO:0005615 | extracellular space | IBA | -- |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0070062 | extracellular exosome | HDA,IDA | 23376485 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for SERPIND1 Gene
Pathways & Interactions for SERPIND1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Formation of Fibrin Clot (Clotting Cascade) | ||
2 | Complement and coagulation cascades | ||
3 | Response to elevated platelet cytosolic Ca2+ |
.44
|
Pathways by source for SERPIND1 Gene
1 BioSystems pathway for SERPIND1 Gene
4 Reactome pathways for SERPIND1 Gene
1 KEGG pathway for SERPIND1 Gene
1 R&D Systems pathway for SERPIND1 Gene
Interacting Proteins for SERPIND1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006935 | chemotaxis | IEA | -- |
GO:0007596 | blood coagulation | TAS | -- |
GO:0007599 | hemostasis | IEA | -- |
GO:0008218 | bioluminescence | IEA | -- |
GO:0010466 | negative regulation of peptidase activity | IEA | -- |
No data available for SIGNOR curated interactions for SERPIND1 Gene
Drugs & Compounds for SERPIND1 Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ardeparin | Approved, Investigational, Withdrawn | Pharma | Target, agonist, binder | 0 | ||
Sulodexide | Approved, Investigational | Pharma | Target, agonist, activator | 0 | ||
Heparin | Approved, Investigational | Pharma | Antagonist | 905,282 | ||
Copper | Approved, Investigational | Pharma | Target | 202 | ||
Zinc | Approved, Investigational | Pharma | Target | 2430 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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
CRISPR Products
-
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-
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-
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Inhibitory RNA Products
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-
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Clone Products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SERPIND1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
- Liver (Hepatobiliary System)
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Epithelial Cells (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for SERPIND1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SERPIND1 Gene
NURSA nuclear receptor signaling pathways regulating expression of SERPIND1 Gene:
SERPIND1SOURCE GeneReport for Unigene cluster for SERPIND1 Gene:
Hs.474270mRNA Expression by UniProt/SwissProt for SERPIND1 Gene:
P05546-HEP2_HUMANEvidence on tissue expression from TISSUES for SERPIND1 Gene
- Liver(4.9)
- Bone marrow(4.1)
- Blood(2.7)
- Heart(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPIND1 Gene
- mesoderm
- cardiovascular
- blood
- blood vessel
- coagulation system
Primer Products
-
OriGene qPCR primer pairs for SERPIND1
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OriGene qPCR primer pairs and template standards for SERPIND1
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Orthologs for SERPIND1 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SERPIND1 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | SERPIND1 34 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Serpind1 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Serpind1 33 |
|
||
cow (Bos Taurus) |
Mammalia | SERPIND1 33 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | SERPIND1 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SERPIND1 34 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | SERPIND1 34 |
|
OneToOne | |
zebrafish (Danio rerio) |
Actinopterygii | serpind1 34 |
|
OneToOne | |
fruit fly (Drosophila melanogaster) |
Insecta | Spn5 34 |
|
ManyToMany | |
Spn88Eb 34 |
|
ManyToMany | |||
Spn27A 34 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10120 34 |
|
ManyToMany | |
-- 34 |
|
ManyToMany |
- Species where no ortholog for SERPIND1 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for SERPIND1 Gene
Paralogs for SERPIND1 Gene
(23) SIMAP similar genes for SERPIND1 Gene using alignment to 2 proteins:
Variants for SERPIND1 Gene
SNP ID | Clin | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs121912420 | pathogenic, Heparin cofactor II deficiency, Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] | 20,786,951(+) | C/T | coding_sequence_variant, missense_variant | |
rs142451096 | Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] | 20,786,905(+) | G/A | coding_sequence_variant, missense_variant | |
rs587777759 | pathogenic, Heparin cofactor II deficiency | 20,779,633(+) | T/TT | coding_sequence_variant, frameshift | |
rs587777760 | pathogenic, Heparin cofactor II deficiency | 20,786,993(+) | TTTT/TT | coding_sequence_variant, frameshift | |
rs5907 | pathogenic, Heparin cofactor II deficiency, Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] | 20,779,935(+) | G/A | coding_sequence_variant, missense_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4483n100 | CNV | gain | 25217958 |
dgv7993n54 | CNV | gain | 21841781 |
dgv7994n54 | CNV | gain | 21841781 |
esv2678175 | CNV | deletion | 23128226 |
esv2763693 | CNV | gain | 21179565 |
esv3329090 | CNV | duplication | 20981092 |
esv3647302 | CNV | loss | 21293372 |
esv3647303 | CNV | gain | 21293372 |
esv3893441 | CNV | gain+loss | 25118596 |
nsv1056614 | CNV | loss | 25217958 |
nsv1065617 | CNV | gain | 25217958 |
nsv436864 | CNV | insertion | 17901297 |
nsv523162 | CNV | loss | 19592680 |
nsv588305 | CNV | loss | 21841781 |
nsv834140 | CNV | loss | 17160897 |
Additional Variant Information for SERPIND1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERPIND1 Gene
Disorders for SERPIND1 Gene

(11) MalaCards diseases for SERPIND1 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
heparin cofactor ii deficiency |
|
|
cervix uteri carcinoma in situ |
|
|
acute cervicitis |
|
|
thrombophilia |
|
|
cervix disease |
|
|
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.
Additional Disease Information for SERPIND1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SERPIND1 Gene
Publications for SERPIND1 Gene
- Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11. (PMID: 1671335) Herzog R … Tollefsen DM (Biochemistry 1991) 2 3 4 22 58
- The N-terminal acidic domain of heparin cofactor II mediates the inhibition of alpha-thrombin in the presence of glycosaminoglycans. (PMID: 1939083) Van Deerlin VM … Tollefsen DM (The Journal of biological chemistry 1991) 3 4 22 58
- Update of the human and mouse SERPIN gene superfamily. (PMID: 24172014) Heit C … Vasiliou V (Human genomics 2013) 2 3 58
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
- Sucrose octasulfate selectively accelerates thrombin inactivation by heparin cofactor II. (PMID: 20053992) Sarilla S … Verhamme IM (The Journal of biological chemistry 2010) 3 22 58
Products for SERPIND1 Gene
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Sources for SERPIND1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
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