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Schema
>
FailedReaction
>
Entries
Defective SLC5A2 does not cotransport Glc and Na+ from extracellular region to cytosol
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authored
[InstanceEdit:5658180] Jassal, Bijay, 2014年12月18日
catalystActivity
[CatalystActivity:9631838] D-glucose:sodium symporter activity of SLC5A2 mutants [plasma membrane]
category
transition
compartment
[Compartment:984] extracellular region
[Compartment:876] plasma membrane
created
[InstanceEdit:5658180] Jassal, Bijay, 2014年12月18日
crossReference
[DatabaseIdentifier:11945130] Mondo:0006510
dbId
5658163
disease
[Disease:5638228] renal tubular transport disease
displayName
Defective SLC5A2 does not cotransport Glc and Na+ from extracellular region to cytosol
edited
[InstanceEdit:5658180] Jassal, Bijay, 2014年12月18日
entityFunctionalStatus
[EntityFunctionalStatus:5658165] loss_of_function of SLC5A2 mutants [plasma membrane]
eventOf
[Pathway:R-HSA-5658208] Defective SLC5A2 causes renal glucosuria (GLYS1) - Homo sapiens
input
[SimpleEntity:R-ALL-70115] Glc [extracellular region]
[SimpleEntity:R-ALL-74113] Na+ [extracellular region]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:429604] Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria
[LiteratureReference:5658201] Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2)
[LiteratureReference:5658161] Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients
maxDepth
1
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023年03月08日
name
Defective SLC5A2 does not cotransport Glc and Na+ from extracellular region to cytosol
normalReaction
[Reaction:R-HSA-429613] SLC5As, NAGLT1 cotransport Glc and Na+ from extracellular region to cytosol
releaseDate
2015年09月22日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:6789776] Broer, Stefan, 2015年08月04日
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-5658163
summation
[Summation:5658164] The human gene SLC5A2 encodes a sodium-dependent glucose tra...
updateTrackers
[UpdateTracker:9777927] Update Tracker - [FailedReaction:5658163] Defective SLC5A2 does not cotransport Glc and Na+ from extracellular region to cytosol - v68:[addCatalystActivity]
Referrals
(updatedInstance)
[UpdateTracker:9777927] Update Tracker - [FailedReaction:5658163] Defective SLC5A2 does not cotransport Glc and Na+ from extracellular region to cytosol - v68:[addCatalystActivity]
(hasEvent)
[Pathway:R-HSA-5658208] Defective SLC5A2 causes renal glucosuria (GLYS1)
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