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FLASH GENE

Symbol

KCNK9

contributors: mct/npt - updated : 08-02-2013

HGNC name	potassium channel, subfamily K, member 9
HGNC id	6283

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRDMI mental retardation with dysmorphism, maternally inherited
Location	8q24.3      Physical location : 140.624.803 - 140.715.299
Synonym name	potassium non voltage-gated channel inwardly rectifying, subfamily K, member 9
	TWIK-related acid-sensitive K+ channels
	two pore potassium channel KT3.2
	potassium channel TASK3
Synonym symbol(s)	TASK3, K2p9.1, KT3.2, MGC138268, MGC138270, TASK-3, K2p9.1

DNA

TYPE	functioning gene
STRUCTURE	90.50 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016601 3 - 1303 NP_057685 - 374 - Brenner (2008)

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 Cardiovascular heart atrium     highly Homo sapiens Endocrine adrenal gland cortex     highly Nervous brain hindbrain cerebellum   highly   nerve cranial nerve

cells

System Cell Pubmed Species Stage Rna symbol Nervous cholinergic neuron nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

IMPRINTING	maternally
text	maternal-specific imprinted expression in fetal brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an extracellular histidine,
	four putative transmembrane segments
	two pore forming regions (P domains) with two P-domains arranged like a tandem of inward rectifier channels

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY	two pore domain potassium channel (TC 1.A.1.8) family
	potassium channel, subfamily K

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,nucleus
text	in right auricular cardiomyocytes KCNK9 is primarily localized at the plasma membrane

basic FUNCTION	pH-dependent, voltage-insensitive, background potassium channel protein playing a direct role in pathogenesis of some carcinomas
	playing a role in neurodevelopment, apoptosis and tumourigenesis
	play a key role in modulating effector functions of T lymphocytes
	may serve as molecular sensors for central chemoreception because they are highly expressed in multiple neuronal populations in the respiratory pathway and contribute to their pH sensitivity
	having a role in adrenal glomerulosa cells for their background potassium current (Brenner 2008)
	play key roles in anesthetic sensitivity and the regulation of sleep (Pang 2009)
	KCNK9 channels are required for atropine-sensitive type II theta oscillations (Pang 2009)
	regulate neuronal firing and may contribute to the specialized responses of orexin neurons to glucose and pH
	role in enhancing neuronal excitability and promoting high-frequency firing, but KCNK3/KCNK9 subunits are not essential for orexin cell responses to glucose and pH
	acid-sensitive KCNK1, KCNK3, KCNK9 change ion selectivity and become permeable to sodium in extracellular acidification

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	ion transport

PATHWAY

metabolism

signaling

a component

heterodimerizing with KCNK3

INTERACTION

DNA

RNA

small molecule

protein

KCNK3

cell & other

REGULATION

inhibited by

phorbol 12-myristate 13 acetate (PMA)

Other

controlled by the binding of 14-3-3 proteins to a trafficking control region at the extreme C-terminus of the channels

ASSOCIATED DISORDERS

corresponding disease(s)

MRDMI

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     in breast cancer tumoral     --over   in breast, colon and lung cancer

Susceptibility

to childhood absence epilepsy

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Animals lacking KCNK9 channel display a reduced sensitivity to the general anesthetic halothane, have a significantly slower progression into sleep, and exhibit fragmented sleep behavior (Pang 2009)