ENSG00000122861
Homo sapiens | |
Features
| Gene ID: | ENSG00000122861 | | | | | Biological name : | PLAU | | | | | Synonyms : | P00749 / plasminogen activator, urokinase / PLAU | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 10 | | Strand: | 1 | | Band: | q22.2 | | Gene start: | 73909177 | | Gene end: | 73917497 | | | | | Corresponding Affymetrix probe sets: | 205479_s_at (Human Genome U133 Plus 2.0 Array) 211668_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000474318
Ensembl peptide - ENSP00000361850
Ensembl peptide - ENSP00000388474
NCBI entrez gene - 5328
See in Manteia.
OMIM - 191840
RefSeq - XM_011539866
RefSeq - NM_001145031
RefSeq - NM_001319191
RefSeq - NM_002658
RefSeq Peptide - NP_001138503
RefSeq Peptide - NP_001306120
RefSeq Peptide - NP_002649
swissprot - P00749
swissprot - S4R3G7
swissprot - E7ET40
Ensembl - ENSG00000122861
| | | | | Related genetic diseases (OMIM): | 104300 - {Alzheimer disease, late-onset, susceptibility to}, 104300 | | | 601709 - Quebec platelet disorder, 601709 |
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:0000132 | Menorrhagia | |
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| | HP:0000421 | Epistaxis | |
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| | HP:0000978 | Ecchymoses | |
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| | HP:0001873 | Thrombocytopenia | |
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| | HP:0005261 | Joint hemorrhage | |
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| | HP:0008148 | Absent platelet aggregation response to epinephrine | |
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Interacting proteins (from Reactome)
| ENSG00000011422 | PLAUR / Q03405 / plasminogen activator, urokinase receptor | / complex / reaction | | ENSG00000122194 | PLG / P00747 / plasminogen | / reaction | | ENSG00000197632 | P05120 / SERPINB2 / serpin family B member 2 | / complex / reaction | | ENSG00000106366 | P05121 / SERPINE1 / serpin family E member 1 | / complex / reaction | | ENSG00000113905 | HRG / P04196 / histidine rich glycoprotein | / reaction | | ENSG00000122861 | PLAU / P00749 / plasminogen activator, urokinase | / complex |
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