ENSG00000057593
Homo sapiens | |
Features
| Gene ID: | ENSG00000057593 | | | | | Biological name : | F7 | | | | | Synonyms : | coagulation factor VII / F7 / P08709 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 13 | | Strand: | 1 | | Band: | q34 | | Gene start: | 113105788 | | Gene end: | 113120681 | | | | | Corresponding Affymetrix probe sets: | 207300_s_at (Human Genome U133 Plus 2.0 Array) 237414_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000442051
Ensembl peptide - ENSP00000329546
Ensembl peptide - ENSP00000364731
Ensembl peptide - ENSP00000387669
NCBI entrez gene - 2155
See in Manteia.
OMIM - 613878
RefSeq - XM_011537475
RefSeq - NM_000131
RefSeq - NM_001267554
RefSeq - NM_019616
RefSeq - XM_006719963
RefSeq - XM_011537474
RefSeq Peptide - NP_001254483
RefSeq Peptide - NP_062562
RefSeq Peptide - NP_000122
swissprot - F5H8B0
swissprot - P08709
swissprot - E9PH36
Ensembl - ENSG00000057593
| | | | | Related genetic diseases (OMIM): | 227500 - Factor VII deficiency, 227500 | | | 608446 - {Myocardial infarction, decreased susceptibility to}, 608446 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR000152 | EGF-type aspartate/asparagine hydroxylation site | | IPR000294 | Gamma-carboxyglutamic acid-rich (GLA) domain | | IPR000742 | EGF-like domain | | IPR001254 | Serine proteases, trypsin domain | | IPR001314 | Peptidase S1A, chymotrypsin family | | IPR001881 | EGF-like calcium-binding domain | | IPR009003 | Peptidase S1, PA clan | | IPR012224 | Peptidase S1A, coagulation factor VII/IX/X/C/Z | | IPR013032 | EGF-like, conserved site | | IPR017857 | Coagulation factor-like, Gla domain superfamily | | IPR018097 | EGF-like calcium-binding, conserved site | | IPR018114 | Serine proteases, trypsin family, histidine active site | | IPR033116 | Serine proteases, trypsin family, serine active site | | IPR033190 | Coagulation factor VII | | IPR035972 | Gamma-carboxyglutamic acid-rich (GLA) domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000132 | Menorrhagia | |
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| | HP:0000138 | Ovarian cysts | |
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| | HP:0000225 | Gingival bleeding | |
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| | HP:0000421 | Epistaxis | |
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| | HP:0000978 | Ecchymoses | |
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| | HP:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
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| | HP:0002170 | Intracranial hemorrhage | "A hemorrhage (bleeding) occuring within the skull." [HPO:curators] |
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| | HP:0002239 | Gastrointestinal hemorrhage | |
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| | HP:0003828 | Variable expressivity | |
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| | HP:0004846 | severe protracted bleeding after surgery | |
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| | HP:0005261 | Joint hemorrhage | |
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| | HP:0008151 | Prolonged prothrombin and partial thromboplastin times | |
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| | HP:0008169 | Factor VII deficiency | |
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| | HP:0010881 | Abnormality of the umbilical cord | "An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta." [HPO:probinson] |
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| | HP:0011891 | Post-partum hemorrhage | "Significant maternal haemorrhage/blood loss following deilvery of a child." [DDD:akelly] |
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| | HP:0012233 | Intramuscular hematoma | "Blood clot formed within muscle tissue following leakage of blood into the tissue." [HPO:probinson] |
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Interacting proteins (from Reactome)
| ENSG00000115486 | GGCX / P38435 / gamma-glutamyl carboxylase | / reaction | | ENSG00000003436 | TFPI / P10646 / tissue factor pathway inhibitor | / complex / reaction | | ENSG00000140564 | FURIN / P09958 / furin, paired basic amino acid cleaving enzyme | / reaction | | ENSG00000117525 | F3 / P13726 / coagulation factor III, tissue factor | / reaction / complex | | ENSG00000101981 | F9 / P00740 / coagulation factor IX | / reaction | | ENSG00000057593 | F7 / P08709 / coagulation factor VII | / complex | | ENSG00000126218 | F10 / P00742 / coagulation factor X | / complex / reaction |
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