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SERPIND1 Gene

protein-coding   GIFtS: 61
GCID: GC22P021139

Serpin Peptidase Inhibitor, Clade D (Heparin Cofactor),...

(Previous names: serine (or cysteine) proteinase inhibitor, clade D (heparin...)
(Previous symbol: HCF2)
  See SERPIND1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Serpin Peptidase Inhibitor, Clade D (Heparin Cofactor), Member 11 2     THPH102 5
HCF21 2 3 5     D22S6732
Serine (Or Cysteine) Proteinase Inhibitor, Clade D (Heparin Cofactor),
Member 11 2
     HCII2
Heparin Cofactor II1 3     LS22
Protease Inhibitor Leuserpin-22 3     Heparin Cofactor 22
Serpin D12 3     Leuserpin 22
HLS22 3     HC-II3
HC22 5     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include heparin binding and endopeptidase inhibitor activity. An important paralog of this gene is SERPING1.

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) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   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 plasmidSERPIND1 promoter sequence
   Search Chromatin IP Primers for SERPIND1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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

Explore proteomics data for SERPIND1 at MOPED

Post-translational modifications: 

  • Phosphorylation sites are present in the extracellular medium1
  • Glycosylation2 at Asn49, Asn188, Asn387

  • See SERPIND1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000176.2  
    ENSEMBL proteins: 
     ENSP00000215727   ENSP00000384050  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SERPIN: Serine (or cysteine) peptidase inhibitors

    3 InterPro protein domains:
     IPR023795 Serpin_CS
     IPR000215 Serpin_fam
     IPR023796 Serpin_dom

    Graphical View of Domain Structure for InterPro Entry P05546

    ProtoNet protein and cluster: P05546

    2 Blocks protein domains:
    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


    Find genes that share domains with SERPIND1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity TAS2647747
    GO:0004867serine-type endopeptidase inhibitor activity IBA--
    GO:0008201heparin binding IEA--
         
    Find genes that share ontologies with SERPIND1           About GenesLikeMe


    Phenotypes:
         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 

    Find genes that share phenotypes with SERPIND1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SERPIND1: Serpind1tm1Moto Serpind1tm1Toll

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SERPIND1
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    miRTarBase miRNAs that target SERPIND1:
    hsa-mir-335-5p (MIRT018769)

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    3 qRT-PCR Assays for microRNAs that regulate SERPIND1:
    hsa-miR-30c-2* hsa-miR-3675-3p hsa-miR-30c-1*
    SwitchGear 3'UTR luciferase reporter plasmidSERPIND1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS14718574
    GO:0005615extracellular space IEA--

    Find genes that share ontologies with SERPIND1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SERPIND1 About    
    See pathways by source

    SuperPathContained pathways About
    1Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    2Formation of Fibrin Clot (Clotting Cascade)
    Blood Coagulation Signaling Pathways0.51


    Find genes that share SuperPaths with SERPIND1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SERPIND1
    Interactions:

        GeneGlobe Interaction Network for SERPIND1

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

    Selected 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:    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--

    Find genes that share ontologies with SERPIND1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SERPIND1 (HEP2)

    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 inferred 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)



    Find genes that share compounds with SERPIND1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 122):

    AU076635 H62677 CB155954 CB154086 CR456573 AI133384 CR593482 R28922 
    CB163577 X03498 BF872817 H90149 T69076 CB123012 H93798 AU103560 
    BI553740 BX495993 T27867 AV651202 BX423551 NM_000185 BV195015 BC035028 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SERPIND1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCCCATAC
    SERPIND1 Expression
    About this image


    SERPIND1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Liver (Hepatobiliary System)
             Hepatocyte-like cells
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
    SERPIND1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SERPIND1 Protein Expression

    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
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SERPIND1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Serpind11 , 5 serine (or cysteine) peptidase inhibitor, clade D, more1, 5 83.4(n)1
    85.56(a)1
      16 (10.74 cM)5
    151601  NM_008223.31  NP_032249.31 
     173313715 
    chicken
    (Gallus gallus)
    Aves SERPIND16
    serpin peptidase inhibitor, clade D (heparin cofac...
    66(a)
    1 ↔ 1
    15(105047-111365)
    lizard
    (Anolis carolinensis)
    Reptilia SERPIND16
    serpin peptidase inhibitor, clade D (heparin cofac...
    67(a)
    1 ↔ 1
    GL343282.1(950208-956336)
    zebrafish
    (Danio rerio)
    Actinopterygii serpind16
    serine (or cysteine) proteinase inhibitor, clade D...
    51(a)
    1 ↔ 1
    8(1948618-1968161) ENSDARG00000021208
    fruit fly
    (Drosophila melanogaster)
    Insecta Spn56
    Spn88Eb6
    (see all 3)
    Serpin 88Eb
    (see all 3)
    23(a)
    23(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    3R(11028791-11032168)
    3R(11032418-11034484)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SERPIND1 gene
    SERPING12  SERPINA12  SERPINA102  SERPINA112  SERPINA72  SERPINA122  SERPINA92  SERPINF12  
    SERPINA52  SERPINA42  SERPINA32  SERPINA62  SERPINF22  
    Selected 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

    Find genes that share paralogs with SERPIND1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    10 SNPs for SERPIND1    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0549784
    Thrombophilia due to heparin cofactor 2 deficiency (THPH10)4--see VAR_0549782 P L mis40--------
    rs59071,2,4
    Thrombophilia due to heparin cofactor 2 deficiency (THPH10)4--see VAR_0071122 mis40--------
    VAR_0549774
    Thrombophilia due to heparin cofactor 2 deficiency (THPH10)4--see VAR_0549772 E K mis40--------
    rs59041,2,4
    ----see VAR_0117492 mis40--------
    rs10424351,2,4
    ----see VAR_0117482 mis40--------
    rs115420691,2,4
    ----see VAR_0519542 mis40--------
    rs1658671,2,4
    ----see VAR_0117472 mis40--------
    rs343246851,2,4
    ----see VAR_0519532 mis40--------
    rs59051,2,4
    ----see VAR_0117462 mis40--------
    rs1219124201,2
    --pathogenic15080517(+) CATGCC/TGCTGT 2 P L mis10--------

    HapMap Linkage Disequilibrium report for SERPIND1 (21128167 - 21142008 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SERPIND1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678175CNV Deletion23128226
    nsv436864CNV Insertion17901297
    nsv834140CNV Loss17160897
    nsv523162CNV Loss19592680
    nsv914418CNV Gain21882294
    nsv914390CNV Gain21882294

    Human Gene Mutation Database (HGMD): SERPIND1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SERPIND1
    DNA2.0 Custom Variant and Variant Library Synthesis for SERPIND1

    (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.)
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    OMIM gene information: 142360   
    OMIM disorders: 612356  
    UniProtKB/Swiss-Prot: HEP2_HUMAN, P05546
  • Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]: A hemostatic disorder
    characterized by a tendency to recurrent thrombosis. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 4 diseases for SERPIND1:    
    About MalaCards
    thrombophilia due to heparin cofactor ii deficiency    dysfibrinogenemia    antithrombin iii deficiency    thrombophilia

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

    Find genes that share disorders with SERPIND1           About GenesLikeMe

    6 Novoseek inferred 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)

    Genetic Association Database (GAD): SERPIND1
    Human Genome Epidemiology (HuGE) Navigator: SERPIND1 (3 documents)

    Export disorders for SERPIND1 gene to outside databases

    (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)
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    PubMed articles for SERPIND1 gene, integrated from 10 sources (see all 94):
    (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. (Biochemistry 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. (J. Biol. Chem. 1991)
    3. Update of the human and mouse SERPIN gene superfamily. (PubMed id 24172014)1, 3 Heit C....Vasiliou V. (Hum. Genomics 2013)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    7. 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. (Circulation 2004)
    8. Crystal structures of native and thrombin-complexed heparin cofactor II reveal a multistep allosteric mechanism. (PubMed id 12169660)1, 2 Baglin T.P.... Huntington J.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PubMed id 10391209)1, 2 Cargill M....Lander E.S. (Nat. Genet. 1999)
    10. Leukocyte chemoattractant peptides from the serpin heparin cofactor II. (PubMed id 1985958)1, 2 Church F.C.... Hoffman M. (J. Biol. Chem. 1991)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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