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Details on Person Defective JAK3 does not bind IL2RG
| Class:Id | FailedReaction:5602695 |
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| _displayName | Defective JAK3 does not bind IL2RG |
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| _doRelease | FALSE |
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| _timestamp | 2016-07-15 23:50:45 |
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| compartment | [Compartment:70101] cytosol
[Compartment:876] plasma membrane |
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| created | [InstanceEdit:5602721] Shamovsky, Veronica, 2014-06-24 |
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| disease | [Disease:5602783] janus kinase-3 deficiency |
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| entityFunctionalStatus | [EntityFunctionalStatus:5602621] loss_of_function of JAK3 variants [cytosol] |
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| input | [DefinedSet:5602622] JAK3 variants (JH6,7 domains) [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:449139] IL2RG [plasma membrane] [Homo sapiens] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:5602697] Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism
[LiteratureReference:5602628] Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation
[LiteratureReference:1213497] Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
[LiteratureReference:539073] Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domain
[LiteratureReference:449984] Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor |
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| modified | [InstanceEdit:5602782] Shamovsky, Veronica, 2014-06-25
[InstanceEdit:5602819] Shamovsky, Veronica, 2014-06-25
[InstanceEdit:8879177] Wu, G, 2016-07-15 |
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| name | Defective JAK3 does not bind IL2RG |
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| normalReaction |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:8927617] R-HSA-5602695.1 |
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| summation | [Summation:5602409] Janus kinase 3 (JAK3) binds to interleukin (IL)-2 receptor g... |
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| (hasEvent) | [Pathway:5602322] JAK3 deficiency causes SCID (IL2R) [Homo sapiens]
[Pathway:5602780] JAK3 deficiency causes SCID (IL7R) [Homo sapiens] |
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No pathways have been reviewed or authored by Defective JAK3 does not bind IL2RG (5602695)
