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FLASH GENE

Symbol

KCNE3

contributors: mct/npt - updated : 20-09-2007

HGNC name	potassium voltage-gated channel, Isk-related family, member 3
HGNC id	6243

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BRGS6 Brugada syndrome 6 HOKPP3 hypokalemic periodic paralysis LQT10 long QT syndrome with ventricular tachyarrhythmia, type 10 THYPOKPP thyrotoxic hypokalemic paralysis
Location	11q13.4      Physical location : 74.165.887 - 74.178.600
Synonym name	mink-related peptide 2
	minimum potassium ion channel-related peptide 2
	cardiac voltage-gated potassium channel accessory subunit
	voltage-gated K+ channel subunit MIRP2
Synonym symbol(s)	MIRP2, HOKPP, DKFZp781H21101, MGC102685, MGC129924

DNA

TYPE	functioning gene
STRUCTURE	12.71 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	binding sites for SP1, ETS, GABP, NFAT, NRF2

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 2 - - 639 variant 2 - 99 kidney, liver, prostate, spleen, ovary, placenta, leukocytes Lundquist also called KCNE3a variant 3 - - 515 variant 3 - 99 kidney, liver, prostate, spleen, ovary, placenta, leukocytes Lundquist also called KCNE3b NM_005472 3 - 3070 NP_005463 11.71 103 - Lundquist also called KCNE3m

EXPRESSION

Type

widely

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 Digestive intestine small intestine jejunum crypt of Lieberkuhn     intestine large intestine colon   moderately   salivary gland       highly Lymphoid/Immune spleen       lowly Reproductive female system placenta     lowly   female system ovary     lowly   male system prostate     lowly Respiratory lung       lowly Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Connective bone       Epithelial secretory glandular exocrine   Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage
cell lines
fluid/secretion	blood

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a single transmembrane segment

conjugated

GlycoP

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies	homolog to rattus Kcne3 (92.23 pc)
	homolog to murine Kcne3 (93.20 pc)

intraspecies

homolog to KCNE1

Homologene

FAMILY	potassium channel KCNE family
	Isk related (IRK) subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	single-pass type I membrane protein

basic FUNCTION	modulating the gating kinetics
	enhancing stability of the multimeric complex

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	voltage-gated potassium channel complex

PATHWAY

metabolism

signaling

a component

heterotetramers KCNQ1/KCNE3, KCNC4/KCNE3

INTERACTION

DNA

RNA

small molecule

protein	the pore forming channel KCNC4 (kv3.4) and restituting its native attributes in muscle
	KCNQ1
	the pore forming channel KCNQ1 to form the potassium channel that is important for intestinal chloride secretion

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HOKPP3 , THYPOKPP , LQT10 , BRGS6

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS