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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SERPIND1 Gene

protein-coding   GIFtS: 57
GCID: GC22P021139

serpin peptidase inhibitor, clade D (heparin cofactor),...

(Previous names: serine (or cysteine) proteinase inhibitor, clade D (heparin...)
(Previous symbol: HCF2)
 Explore 20 diseases affiliated with
SERPIND1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SERPIND1    

Aliases
for SERPIND1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Serpin Peptidase Inhibitor, Clade D (Heparin Cofactor), Member 11 2     Serpin D12 3
HCF21 2 3 5     HCII2
HLS21 2 3     LS22
HC21 2 5     THPH102
D22S6731 2     Heparin Cofactor 22
Serine (Or Cysteine) Proteinase Inhibitor, Clade D (Heparin Cofactor), Member 11 2     Leuserpin 22
HC-II1 3     Heparin Cofactor II3
Protease Inhibitor Leuserpin-22 3     

External Ids:    HGNC: 48381   Entrez Gene: 30532   Ensembl: ENSG000000999377   OMIM: 1423605   UniProtKB: P055463   

Export aliases for SERPIND1 gene to outside databases

Previous GC identifers: GC22P017827 GC22P019452 GC22P004396


Summaries
for SERPIND1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SERPIND1:
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)

UniProtKB/Swiss-Prot: HEP2_HUMAN, P05546
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
Function: Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils

Gene Wiki entry for SERPIND1 (Heparin cofactor II)


Genomic Views
for SERPIND1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SERPIND1 gene promoter:
         AML1a   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   NF-kappaB   GATA-2   GATA-1   FOXJ2 (long isoform)   FOXJ2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SERPIND1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SERPIND1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERPIND1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

SERPIND1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SERPIND1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P021139:  view genomic region     (about GC identifiers)

Start:
 21,128,167 bp from pter      End:
 21,142,008 bp from pter
Size:
 13,842 bases      Orientation:
 plus strand

Proteins
for SERPIND1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: HEP2_HUMAN, P05546 (See protein sequence)
Recommended Name: Heparin cofactor 2 precursor  
Size: 499 amino acids; 57071 Da
Sequence caution: Sequence=CAG30459.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for SERPIND1:
1JMJ (3D)        1JMO (3D)    
Secondary accessions: B2RAI1 D3DX34 Q6IBZ5

Explore the universe of human proteins at neXtProt for SERPIND1: NX_P05546

Post-translational modifications:

  • Phosphorylation sites are present in the extracellular medium1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P05546

    • SERPIND1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000176.2  
    ENSEMBL proteins: 
     ENSP00000215727   ENSP00000384050  

    Human Recombinant Protein Products: 
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    R&D Systems Recombinant & Natural Proteins for SERPIND1 (Serpin D1/Heparin Cofactor II)
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    OriGene Protein Over-expression Lysate: SERPIND1
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    Novus Biologicals SERPIND1 Protein
    Novus Biologicals SERPIND1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS14718574


    SERPIND1 for ontologies           About GeneDecksing



    SERPIND1 Antibody Products: 
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    ThermoFisher Antibodies for SERPIND1

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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for SERPIND1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SERPIND1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR000295 Prot_inh_Lserp2
     IPR023795 Protease_inhib_I4_serpin_CS
     IPR023796 Serpin_dom
     IPR000215 Serpin_fam

    Graphical View of Domain Structure for InterPro Entry P05546

    ProtoNet protein and cluster: P05546

    2 Blocks protein families:
    IPB000215 Serpin
    IPB000295 Leuserpin 2 signature


    UniProtKB/Swiss-Prot: HEP2_HUMAN, P05546
    Domain: The N-terminal acidic repeat region mediates, in part, the glycosaminoglycan-accelerated thrombin inhibition
    Similarity: Belongs to the serpin family


    Function
    for SERPIND1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: HEP2_HUMAN, P05546
    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
    Function: Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils

    miRNA
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    hsa-miR-30c-2* hsa-miR-3675-3p hsa-miR-30c-1*
    SwitchGear 3'UTR luciferase reporter plasmid: SERPIND1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: SERPIND1
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SERPIND1

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERPIND1 

    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity TAS2647747
    GO:0004867serine-type endopeptidase inhibitor activity IBA--
    GO:0008201heparin binding IEA--


    SERPIND1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SERPIND1: Serpind1tm1Moto Serpind1tm1Toll
         7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Serpind1):
     cardiovascular system  cellular  hematopoietic system  homeostasis/metabolism  mortality/aging 
     muscle  renal/urinary system 

    SERPIND1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SERPIND1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Complement and coagulation cascades
    		Complement and coagulation cascades1.00
    		Complement and Coagulation Cascades0.72
    2Formation of Fibrin Clot (Clotting Cascade)
    		Blood Coagulation Signaling Pathways0.51

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 R&D Systems Pathway for SERPIND1
        Blood Coagulation Signaling Pathways


    1 BioSystems Pathway for SERPIND1 
        Complement and Coagulation Cascades


    1         Kegg Pathway  (Kegg details for SERPIND1):
        Complement and coagulation cascades


    SERPIND1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SERPIND1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for SERPIND1 (P055463 ENSP000002157274) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    F2P007343, ENSP000003085414I2D: score=3 STRING: ENSP00000308541
    CTSGP083113, ENSP000002163364I2D: score=1 STRING: ENSP00000216336
    ELANEP082463, ENSP000002636214I2D: score=1 STRING: ENSP00000263621
    IGHA1P018763, ENSP000003749894I2D: score=1 STRING: ENSP00000374989
    IGHG1P018573, ENSP000003749904I2D: score=1 STRING: ENSP00000374990
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006935chemotaxis IEA--
    GO:0007596blood coagulation IEA--
    GO:0010951negative regulation of endopeptidase activity IBA--
    GO:0030162regulation of proteolysis IBA--


    SERPIND1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SERPIND1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SERPIND1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SERPIND1

    1 HMDB Compound for SERPIND1    About this table
    CompoundSynonyms CAS #PubMed Ids
    HeparinArteven (see all 17)9005-49-6--

    3 DrugBank Compounds for SERPIND1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Ardeparin-- --targetagonist17139284 11752352 17016423 12397367
    Alpha-D-Mannose-- 3458-28-4target--17139284 17016423
    Sulodexide-- 57821-29-1targetagonist12818259

    5 Novoseek chemical compound relationships for SERPIND1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dermatan sulfate 85.8 24 1646716 (3), 2122537 (2), 2266131 (1), 1671335 (1) (see all 15)
    heparin 78.6 70 15371417 (6), 10574918 (2), 12361205 (2), 2196322 (2) (see all 39)
    glycosaminoglycan 63.3 4 15371417 (2), 11068038 (1), 9813026 (1)
    serine 36 5 10753952 (1), 11068038 (1), 2196322 (1), 8562924 (1) (see all 5)
    fibrinogen 9.25 3 10650845 (2), 1391957 (1)

    Search CenterWatch for drugs/clinical trials and news about SERPIND1 / HEP2 

    Transcripts
    for SERPIND1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SERPIND1 gene: 
    NM_000185.3  

    Unigene Cluster for SERPIND1:

    Serpin peptidase inhibitor, clade D (heparin cofactor), member 1
    Hs.474270  [show with all ESTs]
    Unigene Representative Sequence: NM_000185
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000215727(uc002ztb.1 uc002ztc.2) ENST00000406799

    miRNA
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    hsa-miR-30c-2* hsa-miR-3675-3p hsa-miR-30c-1*
    SwitchGear 3'UTR luciferase reporter plasmid: SERPIND1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SERPIND1 (see all 7)
    OriGene shRNA RFP: SERPIND1
    OriGene siRNA: SERPIND1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SERPIND1
    Clone
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    Primer
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    Additional cDNA sequence: 

    AK225292.1 AK314200.1 BC035028.2 CR456573.1 M12849.1 X03498.1 

    11 DOTS entries:

    DT.446354  DT.86846377  DT.100018305  DT.100801333  DT.100801331  DT.100648881  DT.86846378  DT.100801332 
    DT.100801334  DT.120667950  DT.120667998 

    24/122 AceView cDNA sequences (see all 122):

    H62677 AU076635 T69076 AU103560 CB123012 X03498 H90149 CR593482 
    BF872817 CB163577 CR456573 H93798 CB155954 AI133384 CB154086 R28922 
    BI553740 H57704 BX494607 W00805 AV651226 H94657 H58864 BE673652 

    GeneLoc Exon Structure


    Expression
    for SERPIND1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SERPIND1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTCCCATAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See SERPIND1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SERPIND1

    SOURCE GeneReport for Unigene cluster: Hs.474270

    UniProtKB/Swiss-Prot: HEP2_HUMAN, P05546
    Tissue specificity: Expressed predominantly in liver. Also present in plasma

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERPIND1

    Orthologs
    for SERPIND1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SERPIND1 gene from 7/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SERPIND11 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 less 69.48(n)
    66.8(a)    		   395877  XM_001232766.2  XP_001232767.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SERPIND16
    		 --
    		 67(a)
    		 1 ↔ 1
    		 GL343282.1(952236-956320)
    zebrafish
    (Danio rerio)    		 Actinopterygii serpind11 serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1 less 59.66(n)
    54.94(a)    		   359841  NM_182880.1  NP_878300.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Spn66
    Spn26
    (see all 26)    		 Serine protease inhibitor 2
    (see all 26)    		 26(a)
    26(a)
    (see all 26)    		 possible ortholog
    possible ortholog
    (see all 26)    		 2R(14013810-14015715)
    2L(8240414-8241800)
    worm
    (Caenorhabditis elegans)    		 Secernentea srp-76
    srp-26
    (see all 6)    		 SeRPin family member (srp-2)
    (see all 6)    		 22(a)
    22(a)
    (see all 6)    		 possible ortholog
    possible ortholog
    (see all 6)    		 V(8179111-8183422)
    V(762735-764658)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G252406
    AT1G640106
    (see all 10)    		 serine protease inhibitor-like protein
    (see all 10)    		 24(a)
    22(a)
    (see all 10)    		 many ↔ many
    many ↔ many
    (see all 10)    		 2(10751768-10753134)
    1(23750884-23751441)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 16)    		 serpin domain containing protein, putative
    (see all 16)    		 22(a)
    21(a)
    (see all 16)    		 many ↔ many
    many ↔ many
    (see all 16)    		 3(23053071-23066803)
    11(6512219-6513571)


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

    Paralogs
    for SERPIND1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SERPIND1 gene
    SERPING12  SERPINA12  SERPINH12  SERPINA102  SERPINA112  SERPINA72  SERPINA122  SERPINA92  
    SERPINA52  SERPINF12  SERPINA42  SERPINA32  SERPINA62  SERPINF22  
    18/23 SIMAP similar genes for SERPIND1 using alignment to 2 protein entries:     HEP2_HUMAN (see all proteins) (see all similar genes):
    SERPINA9    SERPINB3    SERPINB4    SERPINA3    SERPINA6    SERPINI2
    SCCA2    SERPINA1    SERPINB1    SERPINI1    SERPINB11    SERPINB13
    SERPINB8    SERPINA7    SERPINA10    SERPINA12    SERPINB7    SERPINC1

    SERPIND1 for paralogs           About GeneDecksing



    Genomic Variants
    for SERPIND1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/334 NCBI SNPs in SERPIND1 are shown (see all 334)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs59071,2
    		C,F,H,pathogenic5073439(+) TCATCG/ACCTCT 2 /H /R mis1 ese310Minor allele frequency- A:0.00MN NS EA NA EU 6699
    rs1123065571,2
    		--4394563(+) CCCACG/AAGGAG 1 -- us2k12Minor allele frequency- A:0.03CSA WA 120
    rs751329021,2
    		F,--4394729(+) ACCTTT/CACACT 1 -- us2k13Minor allele frequency- C:0.03WA NA EA 358
    rs775901551,2
    		--4394885(+) ATAAGC/TTGATC 1 -- us2k12Minor allele frequency- T:0.05CSA WA 120
    rs3620241,2
    		A--4394971(+) ATAAgG/GC    
           /T/TT    tcggg     		1 -- us2k10--------
    rs57518981,2
    		--4395209(+) gatcaC/Tgccac 1 -- us2k10--------
    rs169887781,2
    		C,F,H,--4395812(+) AGGAAC/TGAGCT 1 -- us2k113Minor allele frequency- T:0.02NA NS EA CSA WA 1522
    rs759731211,2
    		F,--4396127(+) TCTACA/GGTTAT 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs748172251,2
    		--4397280(+) AAGTGT/CTATGC 1 -- int12Minor allele frequency- C:0.03CSA WA 120
    rs794796891,2
    		--4397585(+) AATGAC/TGAAAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for SERPIND1 (21128167 - 21142008 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SERPIND1: --
    Human Gene Mutation Database (HGMD): SERPIND1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SERPIND1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SERPIND1 for disorders           About GeneDecksing

    OMIM gene information: 142360   
    OMIM disorders: 612356  
    UniProtKB/Swiss-Prot: HEP2_HUMAN, P05546
  • Defects in SERPIND1 are the cause of thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356].
    • A hemostatic disorder characterized by a tendency to recurrent thrombosis

    20 diseases for SERPIND1:    About MalaCards
    thrombophilia due to heparin cofactor ii deficiency    disseminated intravascular coagulation    antithrombin iii deficiency    dysfibrinogenemia
    thrombophilia    protein c deficiency    myocardial infarction    acute myocardial infarction
    cerebral infarction    thromboembolism    lupus erythematosus    hemorrhagic disease
    laryngitis    laryngeal carcinoma    cerebritis    thrombosis
    atherosclerosis    carcinoma    hepatitis    venous thrombosis

    6 diseases from the University of Copenhagen DISEASES database for SERPIND1:
    Thrombophilia     Protein C deficiency     Laryngeal carcinoma     Antithrombin III deficiency
    Hemorrhagic disease     Vascular disease

    6 Novoseek disease relationships for SERPIND1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dysfibrinogenemia 83.1 4 17183975 (1), 10358455 (1), 8170263 (1), 7781275 (1)
    thrombophilia 43.2 1 10650845 (1)
    thromboembolism 29.6 1 1836072 (1)
    cerebral infarction 24.7 2 10967662 (1)
    bleeding 0.748 1 14516771 (1)
    stroke 0 1 10967662 (1)

    Human Genome Epidemiology (HuGE) Navigator: SERPIND1 (3 documents)

    Export disorders for SERPIND1 gene to outside databases

    Publications
    for SERPIND1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SERPIND1 gene, integrated from 9 sources (see all 91):
    (articles sorted by number of sources associating them with SERPIND1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11. (PubMed id 1671335)1, 2, 3, 9 Herzog R....Tollefsen D.M. (1991)
    2. The N-terminal acidic domain of heparin cofactor II mediates the inhibition of alpha-thrombin in the presence of glycosaminoglycans. (PubMed id 1939083)1, 2, 9 van Deerlin V.M.D. and Tollefsen D.M. (1991)
    3. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    5. Homozygous deficiency of heparin cofactor II: relevance of P17 glutamate residue in serpins, relationship with conformational diseases, and role in thrombosis. (PubMed id 15337701)1, 2 Corral J....Vicente V. (2004)
    6. Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PubMed id 10391209)1, 2 Cargill M....Lander E.S. (1999)
    7. Leukocyte chemoattractant peptides from the serpin heparin cofactor II. (PubMed id 1985958)1, 2 Church F.C.... Hoffman M. (1991)
    8. Site-directed mutagenesis of arginine 103 and lysine 185 in the proposed glycosaminoglycan-binding site of heparin cofactor II. (PubMed id 2104620)1, 2 Blinder M.A. and Tollefsen D.M. (1990)
    9. Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate. (PubMed id 2647747)1, 2 Blinder M.A.... Tollefsen D.M. (1989)
    10. Structure and expression of the gene coding for the human serpin hLS2. (PubMed id 2841345)1, 2 Ragg H. and Preibisch G. (1988)

    External Searches for SERPIND1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing SERPIND1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3053 HGNC: 4838 AceView: SERPIND1 Ensembl:ENSG00000099937 euGenes: HUgn3053
    ECgene: SERPIND1 Kegg: 3053 H-InvDB: SERPIND1

    Other Databases showing SERPIND1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SERPIND1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SERPIND1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SERPIND1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SERPIND1 gene:
    Search GeneIP for patents involving SERPIND1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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