ENSG00000126218
Homo sapiens | |
Features
| Gene ID: | ENSG00000126218 | | | | | Biological name : | F10 | | | | | Synonyms : | coagulation factor X / F10 / P00742 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 13 | | Strand: | 1 | | Band: | q34 | | Gene start: | 113122814 | | Gene end: | 113149529 | | | | | Corresponding Affymetrix probe sets: | 205620_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000387092
Ensembl peptide - ENSP00000364701
Ensembl peptide - ENSP00000364709
Ensembl peptide - ENSP00000386320
NCBI entrez gene - 2159
See in Manteia.
OMIM - 613872
RefSeq - NM_000504
RefSeq - NM_001312674
RefSeq - NM_001312675
RefSeq Peptide - NP_000495
RefSeq Peptide - NP_001299603
RefSeq Peptide - NP_001299604
swissprot - F8WBM7
swissprot - Q5JVE7
swissprot - B7ZBK1
swissprot - Q5JVE8
swissprot - P00742
Ensembl - ENSG00000126218
| | | | | Related genetic diseases (OMIM): | 227600 - Factor X deficiency, 227600 |
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 | | 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:0000225 | Gingival bleeding | |
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| | HP:0000421 | Epistaxis | |
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| | HP:0002170 | Intracranial hemorrhage | "A hemorrhage (bleeding) occuring within the skull." [HPO:curators] |
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| | HP:0003011 | Abnormality of musculature | "Abnormality originating in one or more muscles." [HPO:curators] |
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| | HP:0003645 | Prolonged partial thromboplastin time | |
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| | HP:0003828 | Variable expressivity | |
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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:0008321 | Factor X deficiency | |
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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)
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