Details for: F7

Gene ID: 2155

Symbol: F7

Ensembl ID: ENSG00000057593

Description: coagulation factor VII

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 11.1180
    Cell Significance Index: -2.8200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 10.3589
    Cell Significance Index: 174.2300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 3.4250
    Cell Significance Index: -3.2700
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.8727
    Cell Significance Index: 17.3800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.3397
    Cell Significance Index: 32.4500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8438
    Cell Significance Index: 167.4500
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 0.8283
    Cell Significance Index: 2.1900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.5200
    Cell Significance Index: 8.7600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.4500
    Cell Significance Index: 27.5900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3515
    Cell Significance Index: 7.6200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.2936
    Cell Significance Index: 6.2800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.2920
    Cell Significance Index: 4.4000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.2581
    Cell Significance Index: 3.8100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.2510
    Cell Significance Index: 3.6000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2220
    Cell Significance Index: 153.5300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1613
    Cell Significance Index: 30.7100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0614
    Cell Significance Index: 55.4000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0528
    Cell Significance Index: 3.1700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0509
    Cell Significance Index: 3.2100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0481
    Cell Significance Index: 4.7600
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.0382
    Cell Significance Index: 0.2200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0378
    Cell Significance Index: 1.0900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0325
    Cell Significance Index: 3.5400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0296
    Cell Significance Index: 0.7400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0253
    Cell Significance Index: 4.1200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0116
    Cell Significance Index: 0.8100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0085
    Cell Significance Index: 3.7600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0076
    Cell Significance Index: 0.1600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0073
    Cell Significance Index: 1.4600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0014
    Cell Significance Index: 0.0500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0014
    Cell Significance Index: 0.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0001
    Cell Significance Index: 0.2400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0004
    Cell Significance Index: -0.1600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0009
    Cell Significance Index: -0.0400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0010
    Cell Significance Index: -0.1300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0013
    Cell Significance Index: -0.9500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0018
    Cell Significance Index: -3.3000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0021
    Cell Significance Index: -3.1600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0024
    Cell Significance Index: -1.3300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0026
    Cell Significance Index: -3.5200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0036
    Cell Significance Index: -2.0500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0049
    Cell Significance Index: -3.6900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0050
    Cell Significance Index: -3.6500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0053
    Cell Significance Index: -3.3500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0055
    Cell Significance Index: -1.6000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0063
    Cell Significance Index: -0.8700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0064
    Cell Significance Index: -2.9100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0066
    Cell Significance Index: -0.3000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0082
    Cell Significance Index: -0.9600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0147
    Cell Significance Index: -3.1100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0160
    Cell Significance Index: -2.3200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0163
    Cell Significance Index: -2.9400
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: -0.0173
    Cell Significance Index: -0.0700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0179
    Cell Significance Index: -0.9400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0189
    Cell Significance Index: -3.2200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0193
    Cell Significance Index: -0.9000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0242
    Cell Significance Index: -1.2200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0246
    Cell Significance Index: -3.0300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0253
    Cell Significance Index: -1.4200
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0255
    Cell Significance Index: -0.3000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0259
    Cell Significance Index: -3.3500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0263
    Cell Significance Index: -2.7400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0266
    Cell Significance Index: -1.3800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0276
    Cell Significance Index: -3.1600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0302
    Cell Significance Index: -2.2500
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0319
    Cell Significance Index: -0.4500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0332
    Cell Significance Index: -0.5600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0355
    Cell Significance Index: -3.6300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0366
    Cell Significance Index: -2.8100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0434
    Cell Significance Index: -1.1800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0454
    Cell Significance Index: -0.6200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0463
    Cell Significance Index: -3.1100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0477
    Cell Significance Index: -2.9300
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.0513
    Cell Significance Index: -0.5600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0523
    Cell Significance Index: -0.5900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0554
    Cell Significance Index: -1.9400
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0561
    Cell Significance Index: -0.9000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0562
    Cell Significance Index: -1.5100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0599
    Cell Significance Index: -0.9500
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0604
    Cell Significance Index: -0.7800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0605
    Cell Significance Index: -1.2900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0606
    Cell Significance Index: -1.2900
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.0615
    Cell Significance Index: -0.6200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0618
    Cell Significance Index: -3.2200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0644
    Cell Significance Index: -2.8500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0656
    Cell Significance Index: -3.0900
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0665
    Cell Significance Index: -1.0100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0671
    Cell Significance Index: -0.7300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0683
    Cell Significance Index: -2.1800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0712
    Cell Significance Index: -2.3300
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0727
    Cell Significance Index: -0.6000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0755
    Cell Significance Index: -2.8600
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: -0.0797
    Cell Significance Index: -0.7400
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.0818
    Cell Significance Index: -1.1200
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0826
    Cell Significance Index: -1.1500
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.0831
    Cell Significance Index: -1.1300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0867
    Cell Significance Index: -2.2800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0872
    Cell Significance Index: -1.9100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0872
    Cell Significance Index: -3.2000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0885
    Cell Significance Index: -1.3700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** Coagulation factor VII is a small, single-pass transmembrane protein that is synthesized in the liver and secreted into the bloodstream. It is characterized by its ability to bind to phospholipid surfaces and undergo gamma-carboxylation, a post-translational modification that enables it to interact with calcium ions. F7 is also known for its role in the activation of the coagulation cascade, where it binds to tissue factor and initiates a series of reactions that ultimately lead to thrombin generation and fibrin formation. **Pathways and Functions:** F7 plays a central role in the coagulation cascade, where it is involved in the following pathways: 1. **Extrinsic pathway of fibrin clot formation:** F7 binds to tissue factor, which triggers a series of reactions that lead to thrombin generation and fibrin formation. 2. **Gamma-carboxylation and calcium ion binding:** F7 undergoes gamma-carboxylation, a post-translational modification that enables it to bind to calcium ions, which is essential for its function in the coagulation cascade. 3. **Circadian clock regulation:** F7 has been implicated in the regulation of the circadian clock, where it interacts with clock proteins such as Bmal1 and npas2 to regulate gene expression. 4. **Cell migration and leukocyte chemotaxis:** F7 has been shown to play a role in cell migration and leukocyte chemotaxis, where it interacts with integrins and chemokine receptors to regulate cellular behavior. 5. **Cancer progression:** F7 has been implicated in cancer progression, where it is overexpressed in various types of cancer, including colorectal and prostate cancer. **Clinical Significance:** F7 has significant clinical implications in the diagnosis and treatment of bleeding disorders, such as hemophilia A and B. Deficiencies in F7 can lead to severe bleeding complications, and replacement therapy is often necessary to prevent or treat bleeding episodes. Additionally, F7 has been implicated in various pathological processes, including cancer progression and cardiovascular disease. Further research is needed to fully understand the role of F7 in these processes and to develop novel therapeutic strategies to target its activity. **Significantly Expressed Cells:** F7 is widely expressed in various tissues, including: 1. **Liver:** F7 is synthesized in the liver and secreted into the bloodstream. 2. **Colon:** F7 is expressed in colon goblet cells and enterocytes. 3. **Hepatocytes:** F7 is expressed in hepatocytes and hepatoblasts. 4. **Kidney:** F7 is expressed in kidney proximal convoluted tubule epithelial cells. 5. **Cerebral cortex:** F7 is expressed in GABAergic interneurons and forebrain radial glial cells. In conclusion, coagulation factor VII is a vital protein that plays a critical role in hemostasis and beyond. Its involvement in various physiological and pathological processes highlights its importance in maintaining tissue homeostasis and regulating cellular behavior. Further research is needed to fully understand the role of F7 in these processes and to develop novel therapeutic strategies to target its activity.

Genular Protein ID: 3062102273

Symbol: FA7_HUMAN

Name: Coagulation factor VII

UniProtKB Accession Codes:

P08709 B0YJC8 Q14339 Q5JVF1 Q5JVF2 Q9UD52 Q9UD53 Q9UD54

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CORUM 1 CTD 1 ChEMBL 1 ComplexPortal 2 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 16 DrugCentral 1 EC 2 ELM 1 EMBL 11 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 35 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 15 KEGG 1 MANE-Select 1 MEROPS 1 MIM 3 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 100 PDBsum 100 PIR 1 PIRSF 1 PRINTS 3 PRO 1 PROSITE 10 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 5 RefSeq 2 SABIO-RK 1 SIGNOR 1 SMART 4 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 3486420

Title: Characterization of a cDNA coding for human factor VII.

PubMed ID: 3486420

DOI: 10.1073/pnas.83.8.2412

PubMed ID: 3037537

Title: Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation.

PubMed ID: 3037537

DOI: 10.1073/pnas.84.15.5158

PubMed ID: 16292673

Title: Human F7 sequence is split into three deep clades that are related to FVII plasma levels.

PubMed ID: 16292673

DOI: 10.1007/s00439-005-0045-5

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3264725

Title: Amino acid sequence and posttranslational modifications of human factor VIIa from plasma and transfected baby hamster kidney cells.

PubMed ID: 3264725

DOI: 10.1021/bi00420a030

PubMed ID: 8043443

Title: Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII.

PubMed ID: 8043443

DOI: 10.1111/j.1365-2141.1994.tb04793.x

PubMed ID: 2511201

Title: Identification of a disaccharide (Xyl-Glc) and a trisaccharide (Xyl2-Glc) O-glycosidically linked to a serine residue in the first epidermal growth factor-like domain of human factors VII and IX and protein Z and bovine protein Z.

PubMed ID: 2511201

DOI: 10.1016/s0021-9258(19)47065-8

PubMed ID: 2129367

Title: A new trisaccharide sugar chain linked to a serine residue in the first EGF-like domain of clotting factors VII and IX and protein Z.

PubMed ID: 2129367

DOI: 10.1007/978-1-4615-3806-6_12

PubMed ID: 1904059

Title: Human plasma and recombinant factor VII. Characterization of O-glycosylations at serine residues 52 and 60 and effects of site-directed mutagenesis of serine 52 to alanine.

PubMed ID: 1904059

DOI: 10.1016/s0021-9258(18)99126-x

PubMed ID: 9023546

Title: Identification of a GDP-L-fucose:polypeptide fucosyltransferase and enzymatic addition of O-linked fucose to EGF domains.

PubMed ID: 9023546

DOI: 10.1093/glycob/6.8.837

PubMed ID: 19167329

Title: Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms.

PubMed ID: 19167329

DOI: 10.1016/j.cell.2008.11.047

PubMed ID: 21949356

Title: Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase.

PubMed ID: 21949356

DOI: 10.1073/pnas.1109696108

PubMed ID: 34502392

Title: Ixodes ricinus Salivary Serpin Iripin-8 Inhibits the Intrinsic Pathway of Coagulation and Complement.

PubMed ID: 34502392

DOI: 10.3390/ijms22179480

PubMed ID: 8598903

Title: The crystal structure of the complex of blood coagulation factor VIIa with soluble tissue factor.

PubMed ID: 8598903

DOI: 10.1038/380041a0

PubMed ID: 9925787

Title: Structure of extracellular tissue factor complexed with factor VIIa inhibited with a BPTI mutant.

PubMed ID: 9925787

DOI: 10.1006/jmbi.1998.2452

PubMed ID: 9692950

Title: Solution structure of the N-terminal EGF-like domain from human factor VII.

PubMed ID: 9692950

DOI: 10.1021/bi980522f

PubMed ID: 2070047

Title: Purification and characterization of factor VII 304-Gln: a variant molecule with reduced activity isolated from a clinically unaffected male.

PubMed ID: 2070047

PubMed ID: 1634227

Title: Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7).

PubMed ID: 1634227

DOI: 10.1007/bf00219173

PubMed ID: 8364544

Title: A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene.

PubMed ID: 8364544

DOI: 10.1093/hmg/2.7.1055

PubMed ID: 8242057

Title: Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII.

PubMed ID: 8242057

DOI: 10.1093/hmg/2.9.1355

PubMed ID: 8204879

Title: Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor.

PubMed ID: 8204879

PubMed ID: 7860081

Title: A common Ser/Thr polymorphism in the perforin-homologous region of human complement component C7.

PubMed ID: 7860081

DOI: 10.1159/000154235

PubMed ID: 7981691

Title: Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro).

PubMed ID: 7981691

DOI: 10.1093/hmg/3.7.1175

PubMed ID: 7974346

Title: Factor VII Mie: homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg(247) (CGC) in the catalytic domain.

PubMed ID: 7974346

PubMed ID: 8652821

Title: A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule.

PubMed ID: 8652821

PubMed ID: 8844208

Title: Mutation pattern in clinically asymptomatic coagulation factor VII deficiency.

PubMed ID: 8844208

DOI: 10.1002/(sici)1098-1004(1996)8:2<108::aid-humu2>3.0.co;2-7

PubMed ID: 8940045

Title: Factor VII central. A novel mutation in the catalytic domain that reduces tissue factor binding, impairs activation by factor Xa, and abolishes amidolytic and coagulant activity.

PubMed ID: 8940045

DOI: 10.1074/jbc.271.48.30685

PubMed ID: 8883260

Title: Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews.

PubMed ID: 8883260

PubMed ID: 9414278

Title: Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain.

PubMed ID: 9414278

PubMed ID: 9576180

Title: Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency.

PubMed ID: 9576180

DOI: 10.1046/j.1365-2141.1998.00666.x

PubMed ID: 9452082

Title: Two new missense mutations (P134T and A244V) in the coagulation factor VII gene.

PubMed ID: 9452082

DOI: 10.1002/humu.1380110161

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 11091194

Title: Two novel factor VII gene mutations in a Chinese family with factor VII deficiency.

PubMed ID: 11091194

DOI: 10.1046/j.1365-2141.2000.02332.x

PubMed ID: 11129332

Title: Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.

PubMed ID: 11129332

DOI: 10.1007/s004390000373

PubMed ID: 10862079

Title: Twenty two novel mutations of the factor VII gene in factor VII deficiency.

PubMed ID: 10862079

DOI: 10.1002/1098-1004(200006)15:6<489::aid-humu1>3.0.co;2-j

PubMed ID: 10984565

Title: Polymorphisms in the factor VII gene and the risk of myocardial infarction in patients with coronary artery disease.

PubMed ID: 10984565

DOI: 10.1056/nejm200009143431104

PubMed ID: 12472587

Title: Two double heterozygous mutations in the F7 gene show different manifestations.

PubMed ID: 12472587

DOI: 10.1046/j.1365-2141.2002.03933.x

PubMed ID: 14717781

Title: A patient homozygous for a Gly354Cys mutation in factor VII that results in severely impaired secretion of the molecule, but not complete deficiency.

PubMed ID: 14717781

DOI: 10.1046/j.1365-2141.2003.04778.x

PubMed ID: 19751712

Title: Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India.

PubMed ID: 19751712

DOI: 10.1016/j.cca.2009.09.007

PubMed ID: 18976247

Title: Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.

PubMed ID: 18976247

DOI: 10.1111/j.1365-2516.2008.01910.x

PubMed ID: 19432927

Title: Familial factor VII deficiency with foetal and neonatal fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation.

PubMed ID: 19432927

DOI: 10.1111/j.1365-2516.2009.02004.x

PubMed ID: 21206266

Title: Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea.

PubMed ID: 21206266

DOI: 10.1097/mbc.0b013e328343641a

PubMed ID: 21372693

Title: A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency.

PubMed ID: 21372693

DOI: 10.1097/mbc.0b013e3283447388

PubMed ID: 26761581

Title: Severe coagulation factor VII deficiency caused by a novel homozygous mutation (p. Trp284Gly) in loop 140s.

PubMed ID: 26761581

DOI: 10.1097/mbc.0000000000000499

Sequence Information:

  • Length: 466
  • Mass: 51594
  • Checksum: 9B5D501669D67B06
  • Sequence:
    • MVSQALRLLC LLLGLQGCLA AGGVAKASGG ETRDMPWKPG PHRVFVTQEE AHGVLHRRRR 
ANAFLEELRP GSLERECKEE QCSFEEAREI FKDAERTKLF WISYSDGDQC ASSPCQNGGS 
CKDQLQSYIC FCLPAFEGRN CETHKDDQLI CVNENGGCEQ YCSDHTGTKR SCRCHEGYSL 
LADGVSCTPT VEYPCGKIPI LEKRNASKPQ GRIVGGKVCP KGECPWQVLL LVNGAQLCGG 
TLINTIWVVS AAHCFDKIKN WRNLIAVLGE HDLSEHDGDE QSRRVAQVII PSTYVPGTTN 
HDIALLRLHQ PVVLTDHVVP LCLPERTFSE RTLAFVRFSL VSGWGQLLDR GATALELMVL 
NVPRLMTQDC LQQSRKVGDS PNITEYMFCA GYSDGSKDSC KGDSGGPHAT HYRGTWYLTG 
IVSWGQGCAT VGHFGVYTRV SQYIEWLQKL MRSEPRPGVL LRAPFP

Genular Protein ID: 1752946743

Symbol: F5H8B0_HUMAN

Name: N/A

UniProtKB Accession Codes:

F5H8B0

Database IDs:

ARBA 7 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 2 GeneTree 1 HGNC 1 InterPro 12 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 1 PRINTS 2 PROSITE 10 PROSITE-ProRule 1 PeptideAtlas 2 Pfam 3 Proteomes 2 ProteomicsDB 2 RefSeq 1 RuleBase 1 SAM 1 SMART 3 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 382
  • Mass: 41879
  • Checksum: 9D63822120051CDD
  • Sequence:
    • MVSQALRLLC LLLGLQGCLA ADGDQCASSP CQNGGSCKDQ LQSYICFCLP AFEGRNCETH 
KDDQLICVNE NGGCEQYCSD HTGTKRSCRC HEGYSLLADG VSCTPTVEYP CGKIPILEKR 
NASKPQGRIV GGKVCPKGEC PWQVLLLVNG AQLCGGTLIN TIWVVSAAHC FDKIKNWRNL 
IAVLGEHDLS EHDGDEQSRR VAQVIIPSTY VPGTTNHDIA LLRLHQPVVL TDHVVPLCLP 
ERTFSERTLA FVRFSLVSGW GQLLDRGATA LELMVLNVPR LMTQDCLQQS RKVGDSPNIT 
EYMFCAGYSD GSKDSCKGDS GGPHATHYRG TWYLTGIVSW GQGCATVGHF GVYTRVSQYI 
EWLQKLMRSE PRPGVLLRAP FP

Genular Protein ID: 2994434558

Symbol: B4DPM2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DPM2

Database IDs:

ARBA 7 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 5 Gene3D 2 InterPro 12 MEROPS 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 1 PRINTS 2 PROSITE 10 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 3 RefSeq 1 RuleBase 1 SAM 1 SMART 3 SUPFAM 2

Sequence Information:

  • Length: 397
  • Mass: 43608
  • Checksum: 67EFB8E45CC42C77
  • Sequence:
    • MGNVNRQGQH CRDFIMVSQA LRLLCLLLGL QGCLAADGDQ CASSPCQNGG SCKDQLQSYI 
CFCLPAFEGR NCETHKDDQL ICVNENGGCE QYCSDHTGTK RSCRCHEGYS LLADGVSCTP 
TVEYPCGKIP ILEKRNASKP QGRIVGGKVC PKGECPWQVL LLVNGAQLCG GTLINTIWVV 
SAAHCFDKIK NWRNLIAVLG EHDLSEHDGD EQSRRVAQVI IPSTYVPGTT NHDIALLRLH 
QPVVLTDHVV PLCLPERTFS ERTLAFVRFS LVSGWGQLLD RGATALELMV LNVPRLMTQD 
CLQQSRKVGD SPNITEYMFC AGYSDGSKDS CKGDSGGPHA THYQGTWYLT GIVSWGQGCA 
TVGHFGVYTR VSQYIEWLQK LMRSEPRPGV LLRAPFP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.