ENSG00000101981
Homo sapiens | |
Features
| Gene ID: | ENSG00000101981 | | | | | Biological name : | F9 | | | | | Synonyms : | coagulation factor IX / F9 / P00740 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | X | | Strand: | 1 | | Band: | q27.1 | | Gene start: | 139530758 | | Gene end: | 139563458 | | | | | Corresponding Affymetrix probe sets: | 207218_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000218099
Ensembl peptide - ENSP00000377650
NCBI entrez gene - 2158
See in Manteia.
OMIM - 300746
RefSeq - XM_005262397
RefSeq - NM_000133
RefSeq - NM_001313913
RefSeq Peptide - NP_001300842
RefSeq Peptide - NP_000124
swissprot - P00740
Ensembl - ENSG00000101981
| | | | | Related genetic diseases (OMIM): | 122700 - {Warfarin sensitivity}, 122700 | | | 300807 - Thrombophilia, X-linked, due to factor IX defect, 300807 | | | 306900 - Hemophilia B, 306900 |
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 | | IPR035694 | Coagulation factor IX | | IPR035972 | Gamma-carboxyglutamic acid-rich (GLA) domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] |
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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:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
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| | HP:0001934 | Persistent bleeding after trauma | |
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| | HP:0002239 | Gastrointestinal hemorrhage | |
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| | HP:0002625 | Deep venous thrombosis | |
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| | HP:0002758 | Osteoarthritis | |
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| | HP:0003645 | Prolonged partial thromboplastin time | |
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| | HP:0005261 | Joint hemorrhage | |
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| | HP:0005542 | Whole-blood clotting time prolonged | |
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| | HP:0010989 | Abnormality of the intrinsic pathway | "An abnormality of the `intrinsic pathway` (GO:0007597) (also known as the contact activation pathway) of the coagulation cascade." [HPO:probinson] |
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| | HP:0011858 | Reduced factor IX activity | "Decreased activity of `coagulation factor IX` (PR:000007303). Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa." [HPO:probinson] |
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| | HP:0100724 | Hypercoagulability | |
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Interacting proteins (from Reactome)
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