Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

KCNJ5

contributors: mct - updated : 01-10-2013

HGNC name	potassium inwardly-rectifying channel, subfamily J, member 5
HGNC id	6266

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FHA3 hyperaldosteronism, familial, type III LQT13 long QT syndrome with ventricular tachyarrhythmia, type 13
Location	11q24.3      Physical location : 128.761.312 - 128.787.949
Synonym name	inward rectifier K(+) channel Kir3.4
	heart KATP channel
	G protein-activated inward rectifier potassium channel 4
Synonym symbol(s)	CIR, GIRK4, KATP1, Kir3.4, LQT13

DNA

TYPE	functioning gene
STRUCTURE	26.65 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000890 3 - 2912 NP_000881 47.5 419 - 1996 8558261

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   heart ventricle     highly Digestive esophagus         Homo sapiens Endocrine adrenal gland cortex     highly Homo sapiens Nervous brain limbic system hippocampus     Homo sapiens

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...)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Amphiphilic
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

mono polymer

homomer , heteromer , tetramer

HOMOLOGY

Homologene

FAMILY

potassium channel subfamily J

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	potassium non voltage-gated channel, inwardly rectifying
	important functional effector of the P2Y(12) receptor in platelets
	controls membrane potentials and regulate cell activities including energy metabolism, apoptosis and gene expression
	having particularly important role in the regulation of insulin secretion from pancreatic beta-cells and in regulating action potential duration in muscle cells
	having a critical role for depotentiation, one form of excitatory synaptic plasticity
	plays potentially a role in regulating membrane excitability in chemically defined neurons of the arcuate nucleus that control body weight

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	potassium ion transport

PATHWAY

metabolism

signaling

a component	forming heterotetramers with Kir4.1 (KCNJ10) and Kir5.1(KCNJ16)
	exists both as homotetramers and heterotetramers with KCNJ3 (KCNJ3 is inactive as a homotetramer)

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	AGT appears to stimulate aldosterone secretion by depolarizing the membrane acting in part through the regulation of the expression and activity of KCNJ5
	AGT- stimulation of aldosterone secretion is mediated in part by suppression of the transcription of KCNJ5, and blocking channel activity

cell & other

REGULATION

Other

ATP-regulated

ASSOCIATED DISORDERS

corresponding disease(s)

LQT13 , FHA3

Susceptibility

to hypertension featuring high aldosterone:renin ratios and/or primary aldosteronism

Variant & Polymorphism SNP	G151E mutations might frequently contribute to development of hypertension featuring high aldosterone:renin ratios and/or primary aldosteronism in the absence of aldosterone-producing adrenal adenomas or hyperplasia

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS