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Aliases for TFPI Gene

Aliases for TFPI Gene

  • Tissue Factor Pathway Inhibitor 2 3 5
  • Extrinsic Pathway Inhibitor 2 3 4
  • Tissue Factor Pathway Inhibitor (Lipoprotein-Associated Coagulation Inhibitor) 2 3
  • TFPI1 3 4
  • LACI 3 4
  • EPI 3 4
  • Lipoprotein-Associated Coagulation Inhibitor 4
  • Anti-Convertin 3
  • TFI 3

External Ids for TFPI Gene

Previous HGNC Symbols for TFPI Gene

  • LACI

Previous GeneCards Identifiers for TFPI Gene

  • GC02M186541
  • GC02M187014
  • GC02M188295
  • GC02M188534
  • GC02M188533
  • GC02M188156
  • GC02M188039
  • GC02M180188
  • GC02M188328

Summaries for TFPI Gene

Entrez Gene Summary for TFPI Gene

  • This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]

GeneCards Summary for TFPI Gene

TFPI (Tissue Factor Pathway Inhibitor) is a Protein Coding gene. Diseases associated with TFPI include Hemophilia and Thrombosis. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include serine-type endopeptidase inhibitor activity and peptidase inhibitor activity. An important paralog of this gene is TFPI2.

UniProtKB/Swiss-Prot for TFPI Gene

  • Inhibits factor X (X(a)) directly and, in a Xa-dependent way, inhibits VIIa/tissue factor activity, presumably by forming a quaternary Xa/LACI/VIIa/TF complex. It possesses an antithrombotic action and also the ability to associate with lipoproteins in plasma.

Gene Wiki entry for TFPI Gene

Additional gene information for TFPI Gene

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

Genomics for TFPI Gene

Regulatory Elements for TFPI Gene

Enhancers for TFPI Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H187539 2 FANTOM5 Ensembl ENCODE dbSUPER 25.1 +18.5 18521 16 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TFPI CALCRL ZSWIM2 GAPDHP59 ST13P2 GC02M187465
GH02H187508 1.3 Ensembl ENCODE 18.4 +54.9 54946 3 PKNOX1 FOXA2 ATF1 MLX ARID4B TCF12 SLC30A9 GATA2 PAF1 SP5 TFPI CALCRL GAPDHP59 GC02M187465
GH02H187526 1.5 Ensembl ENCODE dbSUPER 15.9 +37.0 36990 5 FOXA2 ATF1 FEZF1 YY1 SLC30A9 FOS PAF1 REST MIER2 PPARG TFPI CALCRL FAM171B GC02M187465
GH02H187580 1.1 Ensembl ENCODE 20.9 -15.4 -15446 1 ELF3 PKNOX1 ARNT ZSCAN9 RAD21 CHAMP1 YY1 ZNF143 FOS RUNX3 TFPI LOC105373788
GH02H187500 1.2 Ensembl ENCODE 18.7 +62.8 62760 5 PKNOX1 ARID4B SIN3A ZNF2 YY1 GATA2 ZNF143 FOS REST ZNF592 TFPI GAPDHP59 CALCRL GC02M187465
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TFPI on UCSC Golden Path with GeneCards custom track

Genomic Location for TFPI Gene

Chromosome:
2
Start:
187,464,230 bp from pter
End:
187,565,760 bp from pter
Size:
101,531 bases
Orientation:
Minus strand

Genomic View for TFPI Gene

Genes around TFPI on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TFPI Gene

Proteins for TFPI Gene

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

    Protein Symbol:
    P10646-TFPI1_HUMAN
    Recommended name:
    Tissue factor pathway inhibitor
    Protein Accession:
    P10646
    Secondary Accessions:
    • O95103
    • Q53TS4

    Protein attributes for TFPI Gene

    Size:
    304 amino acids
    Molecular mass:
    35015 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TFPI Gene

    Alternative splice isoforms for TFPI Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFPI Gene

Post-translational modifications for TFPI Gene

  • O-glycosylated.
  • Glycosylation at Thr42, posLast=115115, Asn145, Asn195, Ser202, and posLast=203203
  • Modification sites at PhosphoSitePlus

Antibody Products

Assay Products

No data available for DME Specific Peptides for TFPI Gene

Domains & Families for TFPI Gene

Gene Families for TFPI Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for TFPI Gene

Suggested Antigen Peptide Sequences for TFPI Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P10646

UniProtKB/Swiss-Prot:

TFPI1_HUMAN :
  • This inhibitor contains three inhibitory domains. The first domain interacts with VIIa and TF, the second one with Xa.
Domain:
  • This inhibitor contains three inhibitory domains. The first domain interacts with VIIa and TF, the second one with Xa.
genes like me logo Genes that share domains with TFPI: view

Function for TFPI Gene

Molecular function for TFPI Gene

GENATLAS Biochemistry:
tissue factor pathway inhibitor,serine proteinase inhibitor,susceptibility gene for venous thrombosis (536GC->T)
UniProtKB/Swiss-Prot Function:
Inhibits factor X (X(a)) directly and, in a Xa-dependent way, inhibits VIIa/tissue factor activity, presumably by forming a quaternary Xa/LACI/VIIa/TF complex. It possesses an antithrombotic action and also the ability to associate with lipoproteins in plasma.

Phenotypes From GWAS Catalog for TFPI Gene

Gene Ontology (GO) - Molecular Function for TFPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity TAS 9252393
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with TFPI: view
genes like me logo Genes that share phenotypes with TFPI: view

Animal Models for TFPI Gene

MGI Knock Outs for TFPI:

Animal Model Products

  • Taconic Biosciences Mouse Models for TFPI

CRISPR Products

miRNA for TFPI Gene

miRTarBase miRNAs that target TFPI

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TFPI
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TFPI Gene

Localization for TFPI Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFPI Gene

Isoform Alpha: Secreted.
Isoform Beta: Microsome membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFPI gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 3
cytosol 3
cytoskeleton 2
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TFPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 19065458
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 19581412
genes like me logo Genes that share ontologies with TFPI: view

Pathways & Interactions for TFPI Gene

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

SIGNOR curated interactions for TFPI Gene

Activates:

Gene Ontology (GO) - Biological Process for TFPI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007596 blood coagulation TAS 9252393
GO:0007598 blood coagulation, extrinsic pathway TAS --
GO:0007599 hemostasis IEA --
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
genes like me logo Genes that share ontologies with TFPI: view

Drugs & Compounds for TFPI Gene

(24) Drugs for TFPI Gene - From: DrugBank, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coagulation factor VIIa Recombinant Human Approved Pharma Target 0
Dalteparin Approved Pharma Target, inhibitor 330
Aspirin Approved, Vet_approved Pharma Channel blocker 1196
Thrombin Approved Pharma 322
serine Nutra 1005

(9) Additional Compounds for TFPI Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TFPI: view

Transcripts for TFPI Gene

Unigene Clusters for TFPI Gene

Tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TFPI
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10
SP1: -
SP2: - - -
SP3: - - - -
SP4:

Relevant External Links for TFPI Gene

GeneLoc Exon Structure for
TFPI
ECgene alternative splicing isoforms for
TFPI

Expression for TFPI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TFPI Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x6.1) and Lung (x4.7).

Protein differential expression in normal tissues from HIPED for TFPI Gene

This gene is overexpressed in Amniocyte (29.3), Serum (15.8), and Liver (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TFPI Gene



Protein tissue co-expression partners for TFPI Gene

NURSA nuclear receptor signaling pathways regulating expression of TFPI Gene:

TFPI

SOURCE GeneReport for Unigene cluster for TFPI Gene:

Hs.516578

mRNA Expression by UniProt/SwissProt for TFPI Gene:

P10646-TFPI1_HUMAN
Tissue specificity: Mostly in endothelial cells.

Evidence on tissue expression from TISSUES for TFPI Gene

  • Bone marrow(4.3)
  • Pancreas(4.1)
  • Liver(3.2)
  • Lung(3.1)
  • Heart(3)
  • Blood(2.8)
  • Kidney(2.5)
  • Spleen(2.4)
  • Muscle(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with TFPI: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TFPI Gene

Orthologs for TFPI Gene

This gene was present in the common ancestor of animals.

Orthologs for TFPI Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TFPI 33 34
  • 99.34 (n)
cow
(Bos Taurus)
Mammalia TFPI 33
  • 81.38 (n)
rat
(Rattus norvegicus)
Mammalia Tfpi 33
  • 75.24 (n)
mouse
(Mus musculus)
Mammalia Tfpi 33 16 34
  • 74.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TFPI 34
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TFPI 34
  • 57 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TFPI 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves TFPI 33 34
  • 60.98 (n)
lizard
(Anolis carolinensis)
Reptilia TFPI 34
  • 48 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tfpia 33 34
  • 52.1 (n)
worm
(Caenorhabditis elegans)
Secernentea mec-9 34
  • 10 (a)
ManyToMany
F22E12.1 34
  • 7 (a)
ManyToMany
ZK287.4 34
  • 6 (a)
ManyToMany
mec-1 34
  • 4 (a)
ManyToMany
Species where no ortholog for TFPI 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for TFPI Gene

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

Paralogs for TFPI Gene

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

Variants for TFPI Gene

Sequence variations from dbSNP and Humsavar for TFPI Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000078341 -- 187,514,474(+) TCCCG(A/C)TTCCG intron-variant
rs1000100105 -- 187,504,576(+) AAAAA(-/AAAAAG)AAAAG intron-variant
rs1000180177 -- 187,515,472(+) TGAAC(A/G)TCAGT intron-variant
rs1000341928 -- 187,529,250(+) AGGTA(A/G)GAATA intron-variant
rs1000345861 -- 187,532,905(+) GCATC(C/T)GCCAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4134n100 CNV gain 25217958
esv2660083 CNV deletion 23128226
esv2759108 CNV gain 17122850
esv28153 CNV loss 19812545
esv3593691 CNV gain 21293372
esv3593692 CNV loss 21293372
nsv1011800 CNV loss 25217958
nsv1014942 CNV gain 25217958
nsv1160891 CNV duplication 26073780
nsv584036 CNV loss 21841781
nsv584038 CNV loss 21841781
nsv834487 CNV gain 17160897
nsv834488 CNV gain+loss 17160897

Variation tolerance for TFPI Gene

Residual Variation Intolerance Score: 67.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.17; 23.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TFPI Gene

Human Gene Mutation Database (HGMD)
TFPI
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFPI

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

Disorders for TFPI Gene

MalaCards: The human disease database

(5) MalaCards diseases for TFPI Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemophilia
  • hemophilia a
thrombosis
  • thrombosis of blood vessel
crescentic glomerulonephritis
  • idiopathic crescentic glomerulonephritis
factor x deficiency
  • disease, stuart-prower
hypoprothrombinemia
  • dysprothrombinemia
- elite association - COSMIC cancer census association via MalaCards
Search TFPI in MalaCards View complete list of genes associated with diseases

Relevant External Links for TFPI

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

No data available for UniProtKB/Swiss-Prot and Genatlas for TFPI Gene

Publications for TFPI Gene

  1. Association analysis of tissue factor pathway inhibitor polymorphisms and haplotypes with osteonecrosis of the femoral head in the Korean population. (PMID: 18695356) Dai XL … Kim TH (Molecules and cells 2008) 3 22 45 60
  2. Intron-exon organization of the human gene coding for the lipoprotein-associated coagulation inhibitor: the factor Xa dependent inhibitor of the extrinsic pathway of coagulation. (PMID: 1993173) van der Logt CP … Bertina RM (Biochemistry 1991) 2 3 4 60
  3. TFPIβ is the GPI-anchored TFPI isoform on human endothelial cells and placental microsomes. (PMID: 22144186) Girard TJ … Broze GJ (Blood 2012) 3 4 60
  4. A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. (PMID: 21378988) Coronary Artery Disease (C4D) Genetics Consortium (Nature genetics 2011) 3 45 60
  5. 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 45 60

Products for TFPI Gene

Sources for TFPI Gene

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