ENSG00000185010
Homo sapiens | |
Features
| Gene ID: | ENSG00000185010 | | | | | Biological name : | F8 | | | | | Synonyms : | coagulation factor VIII / F8 / P00451 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | X | | Strand: | -1 | | Band: | q28 | | Gene start: | 154835788 | | Gene end: | 155026940 | | | | | Corresponding Affymetrix probe sets: | 205756_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000389153
Ensembl peptide - ENSP00000496062
Ensembl peptide - ENSP00000495706
Ensembl peptide - ENSP00000409446
Ensembl peptide - ENSP00000327895
Ensembl peptide - ENSP00000353393
NCBI entrez gene - 2157
See in Manteia.
OMIM - 300841
RefSeq - NM_000132
RefSeq - NM_019863
RefSeq Peptide - NP_000123
RefSeq Peptide - NP_063916
swissprot - P00451
swissprot - B1B0G8
swissprot - B1B0G9
Ensembl - ENSG00000185010
| | | | | Related genetic diseases (OMIM): | 306700 - Hemophilia A, 306700 |
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)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000978 | Ecchymoses | |
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| | HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
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| | HP:0001934 | Persistent bleeding after trauma | |
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| | HP:0002758 | Osteoarthritis | |
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| | HP:0003125 | Factor VIII deficiency | |
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| | HP:0003645 | Prolonged partial thromboplastin time | |
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| | HP:0005261 | Joint hemorrhage | |
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Interacting proteins (from Reactome)
| ENSG00000101981 | F9 / P00740 / coagulation factor IX | / reaction / complex | | ENSG00000115718 | PROC / P04070 / protein C, inactivator of coagulation factors Va and VIIIa | / reaction | | ENSG00000074695 | LMAN1 / P49257 / lectin, mannose binding 1 | / reaction / complex | | ENSG00000110799 | VWF / P04275 / von Willebrand factor | / reaction / complex | | ENSG00000180210 | F2 / P00734 / coagulation factor II, thrombin | / reaction | | ENSG00000185010 | F8 / P00451 / coagulation factor VIII | / complex | | ENSG00000180398 | MCFD2 / Q8NI22 / multiple coagulation factor deficiency 2 | / complex / reaction | | ENSG00000126218 | F10 / P00742 / coagulation factor X | / reaction |
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