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Details on Person Defective AVP mutants do not bind AVPR2

Class:Id	FailedReaction:9035517
_displayName	Defective AVP mutants do not bind AVPR2
_doRelease	TRUE
_timestamp	2018-01-30 16:14:34
authored	[InstanceEdit:5621442] Jassal, Bijay, 2014-08-29
compartment	[Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:5621442] Jassal, Bijay, 2014-08-29
disease	[Disease:5623603] neurohypophyseal diabetes insipidus
edited	[InstanceEdit:5621442] Jassal, Bijay, 2014-08-29
entityFunctionalStatus	[EntityFunctionalStatus:5621408] loss_of_function of AVP mutants [extracellular region]
input	[DefinedSet:5621383] AVP mutants [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:388431] AVPR2 [plasma membrane] [Homo sapiens]
isChimeric	FALSE
literatureReference	[LiteratureReference:5621386] Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment [LiteratureReference:5621403] Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus [LiteratureReference:5621388] Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus [LiteratureReference:5621399] Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus [LiteratureReference:5621423] Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus [LiteratureReference:5621467] Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin [LiteratureReference:5621445] Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor [LiteratureReference:5621453] Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis
modified	[InstanceEdit:5623578] Jassal, Bijay, 2014-09-17 [InstanceEdit:5623756] Jassal, Bijay, 2014-09-19 [InstanceEdit:5626887] Jassal, Bijay, 2014-10-13 [InstanceEdit:6789777] Jassal, Bijay, 2015-08-04 [InstanceEdit:9035520] Jassal, Bijay, 2018-01-24 [InstanceEdit:9035521] Jassal, Bijay, 2018-01-24 [InstanceEdit:9035523] Jassal, Bijay, 2018-01-24 [InstanceEdit:9035946] Jassal, Bijay, 2018-01-25 [InstanceEdit:9036007] Jassal, Bijay, 2018-01-29 [InstanceEdit:9036113] Jassal, Bijay, 2018-01-30 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective AVP mutants do not bind AVPR2
normalReaction	[Reaction:392263] AVP(20-28) binds AVPR2 [Homo sapiens]
releaseDate	2015-09-22
releaseStatus	NEW
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9035519] R-HSA-9035517.2
summation	[Summation:9035518] Arginine vasopressin (AVP(20-28)) is a 9 amino-acid long sig...
(hasEvent)	[Pathway:9036092] Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) [Homo sapiens]
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