ENSG00000088926
Homo sapiens | |
Features
| Gene ID: | ENSG00000088926 | | | | | Biological name : | F11 | | | | | Synonyms : | coagulation factor XI / F11 / P03951 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 4 | | Strand: | 1 | | Band: | q35.2 | | Gene start: | 186265945 | | Gene end: | 186288806 | | | | | Corresponding Affymetrix probe sets: | 1563160_at (Human Genome U133 Plus 2.0 Array) 1569591_at (Human Genome U133 Plus 2.0 Array) 1569592_a_at (Human Genome U133 Plus 2.0 Array) 206610_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000264691
Ensembl peptide - ENSP00000384957
Ensembl peptide - ENSP00000397401
Ensembl peptide - ENSP00000424479
Ensembl peptide - ENSP00000264692
NCBI entrez gene - 2160
See in Manteia.
OMIM - 264900
RefSeq - XM_017007886
RefSeq - XM_005262822
RefSeq - XM_005262823
RefSeq - XM_006714137
RefSeq - XM_017007884
RefSeq - XM_017007885
RefSeq - NM_000128
RefSeq - XM_005262821
RefSeq Peptide - NP_000119
swissprot - H0Y596
swissprot - D6RB32
swissprot - P03951
swissprot - X6R3B1
Ensembl - ENSG00000088926
| | | | | Related genetic diseases (OMIM): | 612416 - Factor XI deficiency, autosomal dominant, 612416 |
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:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | 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:0000421 | Epistaxis | |
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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:0001929 | Factor XI deficiency | |
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| | HP:0002239 | Gastrointestinal hemorrhage | |
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| | HP:0003645 | Prolonged partial thromboplastin time | |
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| | HP:0005261 | Joint hemorrhage | |
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| | HP:0006298 | Prolonged bleeding after dental extraction | |
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Interacting proteins (from Reactome)
| ENSG00000131187 | F12 / P00748 / coagulation factor XII | / reaction | | ENSG00000088926 | F11 / P03951 / coagulation factor XI | / complex | | ENSG00000101981 | F9 / P00740 / coagulation factor IX | / reaction | | ENSG00000169704 | GP9 / P14770 / glycoprotein IX platelet | / complex / reaction | | ENSG00000180210 | F2 / P00734 / coagulation factor II, thrombin | / reaction | | ENSG00000185245 | GP1BA / P07359 / glycoprotein Ib platelet alpha subunit | / complex / reaction | | ENSG00000203618 | GP1BB / P13224 / glycoprotein Ib platelet beta subunit | / reaction / complex | | ENSG00000178732 | GP5 / P40197 / glycoprotein V platelet | / reaction / complex |
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