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Schema
>
FailedReaction
>
Entries
Defective TCII does not bind Cbl in the circulation
Show undefined attributes
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authored
[InstanceEdit:3299640] Jassal, B, 2013-04-19
category
transition
compartment
[Compartment:984] extracellular region
created
[InstanceEdit:3299640] Jassal, B, 2013-04-19
crossReference
[DatabaseIdentifier:12020848] Mondo:0001700
dbId
3299657
disease
[Disease:3299649] megaloblastic anemia
displayName
Defective TCII does not bind Cbl in the circulation
edited
[InstanceEdit:3299640] Jassal, B, 2013-04-19
entityFunctionalStatus
[EntityFunctionalStatus:3315448] loss_of_function of TCII P259R [extracellular region]
eventOf
[Pathway:R-HSA-3359454] Defective TCN2 causes TCN2 deficiency - Homo sapiens
input
[SimpleEntity:R-ALL-3000125] Cbl [extracellular region]
[EntityWithAccessionedSequence:R-HSA-3315449] TCII P259R [extracellular region]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:3299641] The transcobalamin codon 259 polymorphism should be designated 776C>G, not 775G>C
[LiteratureReference:3299661] Transcobalamin II 775G>C polymorphism and indices of vitamin B12 status in healthy older adults
[LiteratureReference:3299646] TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations
maxDepth
1
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Defective TCII does not bind Cbl in the circulation
normalReaction
[Reaction:R-HSA-3000074] TCN2 binds RCbl in the circulation
releaseDate
2013-09-18
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:4093346] Watkins, D, 2013-08-14
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-3299657
summation
[Summation:3299648] Transcobalamin II (TCII, the product of the gene TCN2) is a ...
updateTrackers
[UpdateTracker:9785545] Update Tracker - [FailedReaction:3299657] Defective TCII does not bind Cbl in the circulation - v52:[add_removeInput]
Referrals
(updatedInstance)
[UpdateTracker:9785545] Update Tracker - [FailedReaction:3299657] Defective TCII does not bind Cbl in the circulation - v52:[add_removeInput]
(hasEvent)
[Pathway:R-HSA-3359454] Defective TCN2 causes TCN2 deficiency
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