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FLASH GENE

Symbol

KCNJ6

contributors: mct/npt/pgu - updated : 26-02-2015

HGNC name	potassium inwardly-rectifying channel, subfamily J, member 6
HGNC id	6267

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	KPLBS Keppen Lubinsky syndrome TRI21 trisomy 21
Location	21q22.13      Physical location : 38.996.785 - 39.288.696
Synonym name	inward rectifier potassium channel KIR3.2
	G protein-activated inward rectifier potassium channel 2
Synonym symbol(s)	BIR1, GIRK2, KATP2, KCNJ7, Kir3.2, hiGIRK2, MGC126596, GIRK-2, KATP-2, hiGIRK2

DNA

TYPE	functioning gene
STRUCTURE	291.96 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - SIM2 - HLCS HLCS - TTC1- D21S267 - D21S336 - D21S394 - DYRK1A - (D21S337 - D21S55 - D21S233 )/KCNJ6 - D21S407 - D21S259 - D21S341 - D21S342 - D21S339 /KCNJ15 - ERG - D21S259 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002240 4 - 2537 NP_002231 48.3 423 - 2003 12743112

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 Digestive esophagus         Homo sapiens Nervous brain hindbrain cerebellum     Mus musculus   brain midbrain substantia nigra     Homo sapiens   brain diencephalon thalamus     Mus musculus   brain limbic system hippocampus     Mus musculus   brain forebrain cerebral cortex     Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth muscularis mucosa (tractus digestif)     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Nervous dopaminergic neuron Homo sapiens Nervous neuron Homo sapiens Reproductive spermatid Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two membrane-spanning domains
	an amphipatic region pore, including the P domain with the K+ channel signature
	an ATP-binding regulatory domain
	Gbetagamma-interacting segments in the first half of the C terminus

mono polymer

homomer , heteromer , tetramer

HOMOLOGY

Homologene

FAMILY	inward rectifier-type potassium channel family
	subfamily J

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,granule
text	coexpressed with SUR (see symbol)
	expression in granule cells continued throughout postnatal development and adulthood

basic FUNCTION	may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors
	important functional effector of the P2Y(12) receptor in platelets
	mediate the synaptic actions of numerous neurotransmitters in the mammalian brain and play an important role in the regulation of neuronal excitability in most brain regions through activation of various G-protein-coupled receptors
	having a critical role for depotentiation, one form of excitatory synaptic plasticity
	inward-rectifying K(+) ion channel supporting sperm function during fertilization
	may likely provide a significant route for modulating different aspects of cerebellar development
	is both necessary and sufficient for peripheral opioid-mediated analgesia

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

forms homotetramers and heterotetramers with GIRK1 and GIRK3 in the central nervous system

INTERACTION

DNA

RNA

small molecule

protein	KCNJ6/MAP3K7IP1 interaction is crucial for BIRK4-induced MAP3K7 and NF-kappaB activation
	capable of interacting with GNB1, GNB2, GNB3 and not GNB4 or GNB5

cell & other

REGULATION

Other

ATP-regulated

ASSOCIATED DISORDERS

corresponding disease(s)

TRI21 , KPLBS

Susceptibility

Variant & Polymorphism

Candidate gene	could be a candidate for other lipodystrophies
Marker
Therapy target

ANIMAL & CELL MODELS

	GIRK subunits are present in most of the 5-HT(1A) receptor-expressing cells in hippocampus, cerebral cortex, septum, and dorsal raphe nucleus in rat brain
	Girk2 null mice are fertile, the male weaver transgenic mice carrying a gain-of-function mutation in the Girk2 gene are infertile