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Details on Person CLCN1/2/KA/KB transport cytosolic Cl- to extracellular region

Class:Id	Reaction:2744228
_displayName	CLCN1/2/KA/KB transport cytosolic Cl- to extracellular region
_doRelease	TRUE
_timestamp	2013-02-28 10:48:51
authored	[InstanceEdit:2744250] Jassal, Bijay, 2012-12-05
catalystActivity	[CatalystActivity:2744255] voltage-gated chloride channel activity of CLCN1/2/KA/KB [plasma membrane]
compartment	[Compartment:70101] cytosol [Compartment:984] extracellular region [Compartment:876] plasma membrane
created	[InstanceEdit:2744250] Jassal, Bijay, 2012-12-05
edited	[InstanceEdit:2744250] Jassal, Bijay, 2012-12-05
input	[SimpleEntity:352022] Cl- [cytosol]
isChimeric	FALSE
literatureReference	[LiteratureReference:2744219] Voltage-dependent and -independent titration of specific residues accounts for complex gating of a ClC chloride channel by extracellular protons [LiteratureReference:2744229] Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen) [LiteratureReference:2744231] Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues [LiteratureReference:2744254] Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia [LiteratureReference:2744235] The skeletal muscle chloride channel in dominant and recessive human myotonia [LiteratureReference:2854992] Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney [LiteratureReference:2855028] Barttin activates ClC-K channel function by modulating gating [LiteratureReference:2854989] Functional and structural analysis of ClC-K chloride channels involved in renal disease [LiteratureReference:2855029] Two highly homologous members of the ClC chloride channel family in both rat and human kidney [LiteratureReference:2854995] Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion [LiteratureReference:2855025] Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness [LiteratureReference:2855042] Salt wasting and deafness resulting from mutations in two chloride channels [LiteratureReference:2855022] Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure [LiteratureReference:3000515] Barttin modulates trafficking and function of ClC-K channels
modified	[InstanceEdit:2744261] Jassal, Bijay, 2012-12-05 [InstanceEdit:2855011] Jassal, Bijay, 2012-12-14 [InstanceEdit:2892455] Jassal, Bijay, 2013-01-02 [InstanceEdit:3000513] Jassal, Bijay, 2013-01-28 [InstanceEdit:3002751] Jassal, Bijay, 2013-01-28 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	CLCN1/2/KA/KB transport cytosolic Cl- to extracellular region
output	[SimpleEntity:188972] Cl- [extracellular region]
releaseDate	2013-03-12
reviewed	[InstanceEdit:3002750] He, Lei, 2013-01-28
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:3200233] R-HSA-2744228.2
summation	[Summation:2744234] Chloride channel proteins 1, 2, Ka and Kb (CLCN1, 2, KA, KB)...
(hasEvent)	[Pathway:2672351] Stimuli-sensing channels [Homo sapiens]
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