This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the hea... See more...

Aliases for F10 Gene

Aliases for F10 Gene

  • Coagulation Factor X 2 3 4 5
  • Stuart-Prower Factor 3 4
  • EC 3.4.21.6 4 50
  • Prothrombinase 3
  • Stuart Factor 4
  • Factor Xa 3
  • EC 3.4.21 50
  • Factor X 3
  • FXA 3
  • F10 5
  • FX 3

External Ids for F10 Gene

Previous GeneCards Identifiers for F10 Gene

  • GC13P112387
  • GC13P108414
  • GC13P112863
  • GC13P111725
  • GC13P112825
  • GC13P113777
  • GC13P094215

Summaries for F10 Gene

Entrez Gene Summary for F10 Gene

  • This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]

GeneCards Summary for F10 Gene

F10 (Coagulation Factor X) is a Protein Coding gene. Diseases associated with F10 include Factor X Deficiency and Scott Syndrome. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Formation of Fibrin Clot (Clotting Cascade). Gene Ontology (GO) annotations related to this gene include calcium ion binding and phospholipid binding. An important paralog of this gene is F9.

UniProtKB/Swiss-Prot Summary for F10 Gene

  • Factor Xa is a vitamin K-dependent glycoprotein that converts prothrombin to thrombin in the presence of factor Va, calcium and phospholipid during blood clotting.

Gene Wiki entry for F10 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for F10 Gene

Genomics for F10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for F10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J113121 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 258.5 +0.1 110 2 SSRP1 ZMYM3 KLF9 ZIC2 YY1 KLF11 ZNF341 KMT2B THAP11 FOXA2 F10 F7 M81357 piR-57137-012 LOC102724474
GH13J113152 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.9 +30.8 30810 3.4 MYC ZNF592 ZIC2 YY1 MXD4 SMAD5 BHLHE40 MBD2 TBP ZEB1 HSALNG0099567 LOC102724474 PCID2 TUBGCP3 F10-AS1 KARS1P2 F10 DCUN1D2-AS PROZ CUL4A
GH13J113182 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 11 +63.4 63442 6.5 SP1 IKZF1 ZNF600 JUND CEBPA BRCA1 ZIC2 MXD4 CEBPB FOXA1 PROZ CUL4A PCID2 KARS1P2 F10-AS1 F10 GRTP1 F7 LAMP1 ENSG00000269356
GH13J113021 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -99.7 -99720 2.8 SSRP1 CEBPA ZIC2 CHD4 YY1 MXD4 CEBPB KLF11 THAP11 KDM6A MCF2L F7 MCF2L-AS1 F10 F10-AS1 KARS1P2 PROZ lnc-F7-6 LOC107984590 MN298678-022
GH13J113169 Enhancer 1.1 Ensembl ENCODE dbSUPER 11 +47.7 47720 2.6 CEBPA THAP11 FOXA2 SMAD4 SAP130 ETV4 RARA TEAD3 ZSCAN9 CREM ENSG00000269125 PROZ F10-AS1 KARS1P2 F10 GRTP1 PCID2 CUL4A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around F10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for F10

Top Transcription factor binding sites by QIAGEN in the F10 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • E2F
  • E2F-1
  • E2F-4

Genomic Locations for F10 Gene

Latest Assembly
chr13:113,122,799-113,149,529
(GRCh38/hg38)
Size:
26,731 bases
Orientation:
Plus strand

Previous Assembly
chr13:113,777,113-113,803,843
(GRCh37/hg19 by Entrez Gene)
Size:
26,731 bases
Orientation:
Plus strand

chr13:113,777,128-113,803,843
(GRCh37/hg19 by Ensembl)
Size:
26,716 bases
Orientation:
Plus strand

Genomic View for F10 Gene

Genes around F10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F10 Gene

Proteins for F10 Gene

  • Protein details for F10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00742-FA10_HUMAN
    Recommended name:
    Coagulation factor X
    Protein Accession:
    P00742
    Secondary Accessions:
    • Q14340

    Protein attributes for F10 Gene

    Size:
    488 amino acids
    Molecular mass:
    54732 Da
    Quaternary structure:
    • The two chains are formed from a single-chain precursor by the excision of two Arg residues and are held together by 1 or more disulfide bonds. Forms a heterodimer with SERPINA5.

    Three dimensional structures from OCA and Proteopedia for F10 Gene

neXtProt entry for F10 Gene

Selected DME Specific Peptides for F10 Gene

P00742:
  • RANSFLEE
  • GECPWQA
  • LRLKTPITFR
  • DACQGDSGG
  • SWGEGCA
  • LERECMEE
  • EDACQGDSGGPHVTRF
  • CQGDSGGP
  • DTYFVTGIVSWGEGCARKGK
  • NVAPACLP
  • FCGGTIL
  • TGIVSWG
  • QKTGIVSGFGRTHE

Post-translational modifications for F10 Gene

  • The vitamin K-dependent, enzymatic carboxylation of some glutamate residues allows the modified protein to bind calcium.
  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
  • The activation peptide is cleaved by factor IXa (in the intrinsic pathway), or by factor VIIa (in the extrinsic pathway).
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • Glycosylation at Thr199, Thr211, Asn221, Asn231, and Thr483
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FA10_HUMAN (102)

Other Protein References for F10 Gene

Domains & Families for F10 Gene

Gene Families for F10 Gene

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

Protein Domains for F10 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
  • Aspartic acid and asparagine hydroxylation site
  • Type II EGF-like signature
  • EGF-like calcium-binding
  • Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
  • Coagulation factor GLA domain signature

Suggested Antigen Peptide Sequences for F10 Gene

GenScript: Design optimal peptide antigens:
  • Stuart-Prower factor (FA10_HUMAN)
  • Coagulation factor X (O15095_HUMAN)
  • cDNA, FLJ94415, Homo sapiens coagulation factor X (F10), mRNA (Q5JVE7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00742

UniProtKB/Swiss-Prot:

FA10_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with F10: view

Function for F10 Gene

Molecular function for F10 Gene

UniProtKB/Swiss-Prot Function:
Factor Xa is a vitamin K-dependent glycoprotein that converts prothrombin to thrombin in the presence of factor Va, calcium and phospholipid during blood clotting.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Selective cleavage of Arg-|-Thr and then Arg-|-Ile bonds in prothrombin to form thrombin.; EC=3.4.21.6;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by SERPINA5 and SERPINA10.
GENATLAS Biochemistry:
coagulation factor X (Stuart Prower),vitamin K-dependent

Enzyme Numbers (IUBMB) for F10 Gene

Phenotypes From GWAS Catalog for F10 Gene

Gene Ontology (GO) - Molecular Function for F10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IDA,IMP 12574802
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 6323392
GO:0005543 phospholipid binding IDA 17469850
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with F10: view
genes like me logo Genes that share phenotypes with F10: view

Human Phenotype Ontology for F10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for F10 Gene

MGI Knock Outs for F10:
  • F10 F10<tm1b(EUCOMM)Hmgu>
  • F10 F10<tm1Ccmt>
  • F10 F10<tm1Edr>

Animal Models for research

  • Taconic Biosciences Mouse Models for F10

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for F10

No data available for Transcription Factor Targets and HOMER Transcription for F10 Gene

Localization for F10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for F10 Gene

Secreted.

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 F10 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
golgi apparatus 4
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for F10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with F10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for F10 Gene

Pathways & Interactions for F10 Gene

genes like me logo Genes that share pathways with F10: view

Pathways by source for F10 Gene

1 KEGG pathway for F10 Gene
1 R&D Systems pathway for F10 Gene
3 Qiagen pathways for F10 Gene
  • Blood Coagulation Cascade
  • Extrinsic Prothrombin Activation Pathway
  • Intrinsic Prothrombin Activation Pathway

SIGNOR curated interactions for F10 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for F10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007596 blood coagulation IC,TAS --
GO:0007598 blood coagulation, extrinsic pathway TAS --
GO:0007599 hemostasis IEA --
genes like me logo Genes that share ontologies with F10: view

Drugs & Compounds for F10 Gene

(146) Drugs for F10 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Apixaban Approved Pharma Target, inhibitor Factor Xa inhibitor 311
Rivaroxaban Approved Pharma Target, antagonist Factor Xa inhibitor 458
Heparin Approved, Investigational Pharma Target, inhibitor, cofactor 1160
Betrixaban Approved, Investigational Pharma Target, inhibitor Factor Xa inhibitor 13
Edoxaban Approved Pharma Target, inhibitor Factor Xa inhibitor 142

(51) Additional Compounds for F10 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(10) ApexBio Compounds for F10 Gene

Compound Action Cas Number
5-R-Rivaroxaban Factor Xa (FXa) inhibitor 865479-71-6
Apixaban Factor Xa inhibitor 503612-47-3
Betrixaban Factor Xa inhibitor 330942-05-7
BIBR 953 (Dabigatran, Pradaxa) Thrombin inhibitor,potent,reversible and direct 211914-51-1
BIBR-1048 Thrombin inhibitor 211915-06-9
CORM-3 Exhibits anti-inflammatory/cardioprotective effects 475473-26-8
Edoxaban Factor Xa inhibitor 480449-70-5
Edoxaban tosylate monohydrate Oral factor Xa inhibitor 1229194-11-9
Otamixaban Direct factor Xa inhibitors,potent and selective 193153-04-7
Rivaroxaban Factor Xa inhibitor 366789-02-8
genes like me logo Genes that share compounds with F10: view

Transcripts for F10 Gene

mRNA/cDNA for F10 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for F10

Alternative Splicing Database (ASD) splice patterns (SP) for F10 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5: -
SP6:

Relevant External Links for F10 Gene

GeneLoc Exon Structure for
F10

Expression for F10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for F10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for F10 Gene

This gene is overexpressed in Liver (x12.2).

Protein differential expression in normal tissues from HIPED for F10 Gene

This gene is overexpressed in Serum (35.3), Plasma (16.0), and Synovial fluid (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for F10 Gene



Protein tissue co-expression partners for F10 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for F10

SOURCE GeneReport for Unigene cluster for F10 Gene:

Hs.361463

mRNA Expression by UniProt/SwissProt for F10 Gene:

P00742-FA10_HUMAN
Tissue specificity: Plasma; synthesized in the liver.

Evidence on tissue expression from TISSUES for F10 Gene

  • Liver(4.6)
  • Blood(3)
  • Heart(2.8)
  • Muscle(2.4)
  • Kidney(2.4)
  • Skin(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for F10 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • head
  • mouth
  • nose
Pelvis:
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
genes like me logo Genes that share expression patterns with F10: view

Primer products for research

Orthologs for F10 Gene

This gene was present in the common ancestor of animals.

Orthologs for F10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia F10 29 30
  • 99.52 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia F10 29 30
  • 79.52 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia F10 29 16 30
  • 78.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia F10 29
  • 77.24 (n)
Cow
(Bos Taurus)
Mammalia F10 29 30
  • 76.88 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia F10 30
  • 63 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia F10 30
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves F10 29 30
  • 60.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia F10 30
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia f10 29
  • 57.65 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68454 29
Zebrafish
(Danio rerio)
Actinopterygii f10 29 30
  • 58.1 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9593 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG11836 29 31
  • 49.21 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004570 29
  • 45.94 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 17 (a)
OneToMany
Species where no ortholog for F10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for F10 Gene

ENSEMBL:
Gene Tree for F10 (if available)
TreeFam:
Gene Tree for F10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for F10: view image
Alliance of Genome Resources:
Additional Orthologs for F10

Paralogs for F10 Gene

(16) SIMAP similar genes for F10 Gene using alignment to 6 proteins:

  • FA10_HUMAN
  • B7ZBK1_HUMAN
  • F8WBM7_HUMAN
  • O15095_HUMAN
  • Q5JVE7_HUMAN
  • Q5JVE8_HUMAN
genes like me logo Genes that share paralogs with F10: view

Variants for F10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for F10 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
1013043 Likely Benign: not provided 113,149,388(+) G/A
NM_000504.4(F10):c.1338G>A (p.Lys446=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
1033059 Pathogenic: Factor X deficiency 113,148,971(+) G/A
NM_000504.4(F10):c.921G>A (p.Val307=)
NONSENSE,SYNONYMOUS
871656 Likely Benign: not provided 113,144,053(+) C/T
NM_000504.4(F10):c.705C>T (p.Ile235=)
SYNONYMOUS
880573 Uncertain Significance: Factor X deficiency 113,122,796(+) G/A
NC_000013.11:g.113122796G>A
880574 Uncertain Significance: Factor X deficiency 113,122,846(+) C/G
NM_000504.4(F10):c.-10C>G
FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for F10 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for F10 Gene

Variant ID Type Subtype PubMed ID
dgv3426n54 CNV gain 21841781
esv1499407 CNV deletion 17803354
esv2678487 CNV deletion 23128226
esv2748261 CNV deletion 23290073
esv3551140 CNV deletion 23714750
esv3551141 CNV deletion 23714750
nsv1046663 CNV gain 25217958
nsv1048814 CNV gain 25217958
nsv1051556 CNV gain 25217958
nsv1070202 CNV deletion 25765185
nsv1113614 CNV deletion 24896259
nsv518044 CNV gain 19592680
nsv563282 CNV loss 21841781
nsv563283 CNV loss 21841781
nsv563284 CNV loss 21841781
nsv563285 CNV loss 21841781
nsv818996 CNV gain 17921354
nsv826819 CNV gain 20364138
nsv832724 CNV loss 17160897
nsv951926 CNV deletion 24416366
nsv958120 CNV deletion 24416366

Variation tolerance for F10 Gene

Residual Variation Intolerance Score: 34.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for F10 Gene

Human Gene Mutation Database (HGMD)
F10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
F10
Leiden Open Variation Database (LOVD)
F10

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for F10 Gene

Disorders for F10 Gene

MalaCards: The human disease database

(42) MalaCards diseases for F10 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
factor x deficiency
  • f10 deficiency
scott syndrome
  • scts
hemorrhagic disease
  • hemorrhagic diathesis
hemarthrosis
  • haemarthrosis of shoulder joint
myocardial infarction
  • myocardial infarction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search F10 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FA10_HUMAN
  • Factor X deficiency (FA10D) [MIM:227600]: A hemorrhagic disease with variable presentation. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. Some patients do not have clinical bleeding diathesis. {ECO:0000269 PubMed:10468877, ECO:0000269 PubMed:10739379, ECO:0000269 PubMed:10746568, ECO:0000269 PubMed:11248282, ECO:0000269 PubMed:11728527, ECO:0000269 PubMed:12574802, ECO:0000269 PubMed:12945883, ECO:0000269 PubMed:15075089, ECO:0000269 PubMed:15650540, ECO:0000269 PubMed:17393015, ECO:0000269 PubMed:19135706, ECO:0000269 PubMed:1973167, ECO:0000269 PubMed:1985698, ECO:0000269 PubMed:25313940, ECO:0000269 PubMed:26222694, ECO:0000269 PubMed:2790181, ECO:0000269 PubMed:7669671, ECO:0000269 PubMed:7860069, ECO:0000269 PubMed:8529633, ECO:0000269 PubMed:8845463, ECO:0000269 PubMed:8910490}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for F10 Gene

bleeding diathesis (FX deficiency)

Additional Disease Information for F10

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with F10: view

Publications for F10 Gene

  1. Characterization of a homozygous Gly11Val mutation in the Gla domain of coagulation factor X. (PMID: 19135706) Chafa O … LeBonniec BF (Thrombosis research 2009) 3 4 22
  2. Analysis of the novel factor X gene mutation Glu51Lys in two families with factor X-Riyadh anomaly. (PMID: 17393015) Al-Hilali A … Herrmann FH (Thrombosis and haemostasis 2007) 3 4 22
  3. Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency. (PMID: 12574802) Pinotti M … Bernardi F (Thrombosis and haemostasis 2003) 3 4 22
  4. Structural basis for chemical inhibition of human blood coagulation factor Xa. (PMID: 9618463) Kamata K … Kim SH (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 22
  5. Structure of human des(1-45) factor Xa at 2.2 A resolution. (PMID: 8355279) Padmanabhan K … Kisiel W (Journal of molecular biology 1993) 3 4 22

Products for F10 Gene

Sources for F10 Gene