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FLASH GENE

Symbol

KCNE2

contributors: mct/npt - updated : 26-04-2017

HGNC name	potassium voltage-gated channel, Isk-related family, member 2
HGNC id	6242

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ATFB5 atrial fibrillation, familal, 5 LQT6 long QT syndrome with ventricular tachyarrhythmia, type 6
Location	21q22.11      Physical location : 35.736.322 - 35.743.440
Synonym name	mink-related peptide 1
	minimum potassium ion channel-related peptide 1
	voltage-gated K+ channel subunit MIRP1
Synonym symbol(s)	MINKR1, MIRP1, LQT5, MGC138292

DNA

TYPE	functioning gene
STRUCTURE	7.12 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see SOD1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_172201 2 - 809 NP_751951 - 123 - Tinel (2000)

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Homo sapiens Digestive intestine large intestine colon   highly Endocrine pancreas       highly   thyroid       highly Reproductive female system ovary     lowly   male system testis     lowly   male system prostate     lowly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cells

System Cell Pubmed Species Stage Rna symbol Endocrine thyroid cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two N-linked glycosylation sites
	a single transmembrane segment
	consensus sequences for two protein kinase C-mediated phosphorylation sites
	a C-terminus having only minimal influences on KCNQ1

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies

homolog to murine Kcne1

Homologene

FAMILY	potassium channel KCNE family
	Isk-related subfamily member (IRK)

CATEGORY

motor/contractile , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume
	having a role as a membrane-spanning subunit within voltage-gated potassium channel complexes (Abbott 2008)
	can associate with the KCNQ1-KCNE1 complex to suppress the current amplitude without altering the slow gating kinetics (Jiang 2009)
	in cardiac myocytes, control cardiac slow delayed rectifier (IKs) channel current amplitude in the cell membrane (Jiang 2009)
	required for normal thyroid hormone biosynthesis (Roepke 2009)
	potassium channel subunits KCNQ1 and KCNE2 form a thyroid-stimulating hormone–stimulated, constitutively active, thyrocyte K+ channel required for normal thyroid hormone biosynthesis (Roepke 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	heterotetramers KCNH2/KCNE2, KCNQ1/KCNE2
	heteromeric channels KCNQ1/KCNE2—originally recognized for their functional roles in repolarizing cardiac myocytes—form a constitutively active K+ channel in thyrocytes (Roepke 2009)

INTERACTION

DNA

RNA

small molecule

protein	associating with KCNH2 (HERG) to generate a rapid delayed-rectifier channel (differing from the channel exclusively made of KCNH2), central to the control of the heart rate and rhythm
	interacting with KCNQ1 resulting in a drastic change of current amplitude and gating properties
	influences blood-cerebrospinal fluid anion flux by regulating KCNQ1 and KCNA3 in the choroid plexus epithelium
	KCNE1 and KCNE2 cleavages are regulated by BACE1 and PSEN1/gamma-secretase activities under physiological conditions
	conductance and dynamics of KCNQ1 could be modulated by different single transmembrane helical auxiliary proteins (such as KCNE1, KCNE2)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LQT6 , ATFB5

related resource

Gene Connection for the Heart - Long QT Syndrome database Long QT Syndrome Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   cardiac KCNE2 transcript levels are approximately 10-fold upregulated at the end of pregnancy

Susceptibility

to atrial fibrillation and arythmia to antibiotic-induced cardiac arrhythmia

Variant & Polymorphism SNP	increasing the arrhythmia risk
	potassium currents inhibited by sulfamethoxazole at therapeutic levels

Candidate gene
Marker
Therapy target	semispecific, reversible pharmacological targeting of the KCNQ1-KCNE2 complex to treat thyroid disease (Roepke 2009)

ANIMAL & CELL MODELS

Kcne2-deficient mice had hypothyroidism, dwarfism, alopecia, goiter and cardiac abnormalities including hypertrophy, fibrosis, and reduced fractional shortening (Roepke 2009)