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KCNJ11 (potassium inwardly rectifying channel subfamily J member 11)

Gene

3767

Potassium inwardly rectifying channel subfamily J member 11

KCNJ11

BIR, HHF2, IKATP, KIR6.2, MODY13, PHHI, PNDM2, TNDM3

11p15.1

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]

Show/Hide all(66)

SNP ID	Visualize variation	Clinical significance	Consequence
rs5219	T>A,C,G	Likely-benign, benign, risk-factor, drug-response, benign-likely-benign	Intron variant, missense variant, 5 prime UTR variant, stop gained, coding sequence variant
rs28936678	A>G	Pathogenic	Coding sequence variant, missense variant
rs74162102	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs74339576	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs80356610	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs80356611	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs80356613	C>G,T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs80356615	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs80356616	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs80356617	A>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs80356618	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs80356620	T>G	Pathogenic	Missense variant, coding sequence variant
rs80356621	T>C	Pathogenic	Missense variant, coding sequence variant
rs80356622	C>G	Pathogenic	Missense variant, coding sequence variant
rs80356624	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs80356625	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894236	G>A,T	Pathogenic, likely-benign	5 prime UTR variant, coding sequence variant, intron variant, synonymous variant, stop gained
rs104894237	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894248	T>C	Pathogenic	Missense variant, coding sequence variant
rs116392938	G>A	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs193922565	A>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs193929333	A>C,G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs193929337	T>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs193929348	T>C	Pathogenic	Coding sequence variant, missense variant
rs193929352	A>G	Pathogenic	Coding sequence variant, missense variant
rs193929353	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs193929355	C>T	Pathogenic	Coding sequence variant, missense variant
rs193929356	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs193929357	A>T	Pathogenic	Coding sequence variant, missense variant
rs193929358	C>T	Pathogenic	Coding sequence variant, missense variant
rs267607196	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs375848765	G>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs377091338	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs387906398	C>A	Pathogenic	5 prime UTR variant, intron variant
rs387906783	A>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, intron variant
rs529946415	A>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, intron variant
rs539975714	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	5 prime UTR variant, intron variant
rs547932593	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant, 5 prime UTR variant
rs587783669	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs587783670	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs587783671	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs587783672	C>T	Pathogenic	Coding sequence variant, missense variant
rs587783673	C>T	Pathogenic	Coding sequence variant, missense variant
rs587783674	G>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs587783675	A>G	Pathogenic	Coding sequence variant, missense variant
rs750414160	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs752507753	G>A	Uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs766891274	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs780957825	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs797045637	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs879253757	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs954727530	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057518775	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1337406718	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1371185696	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1404429785	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554901596	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1554901690	->GATGATC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554901718	->T	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554901775	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554901822	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554901829	AAGG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554901854	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1564865232	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1564865302	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1591695840	A>G	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(89)

miRTarBase ID	miRNA	Experiments	Reference
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	23592263
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	22012620
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	20371350
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	26701625
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	27292025
MIRT488963	hsa-miR-4673	PAR-CLIP	23592263
MIRT488963	hsa-miR-4673	PAR-CLIP	23446348
MIRT488963	hsa-miR-4673	PAR-CLIP	22012620
MIRT488963	hsa-miR-4673	PAR-CLIP	20371350
MIRT488963	hsa-miR-4673	HITS-CLIP	23824327
MIRT488963	hsa-miR-4673	PAR-CLIP	26701625
MIRT488963	hsa-miR-4673	PAR-CLIP	27292025
MIRT488964	hsa-miR-4692	PAR-CLIP	23592263
MIRT488964	hsa-miR-4692	PAR-CLIP	23446348
MIRT488964	hsa-miR-4692	PAR-CLIP	22012620
MIRT488964	hsa-miR-4692	PAR-CLIP	20371350
MIRT488964	hsa-miR-4692	PAR-CLIP	26701625
MIRT488964	hsa-miR-4692	PAR-CLIP	27292025
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	23592263
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	23446348
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	22012620
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	20371350
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	26701625
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	27292025
MIRT488966	hsa-miR-4514	PAR-CLIP	23592263
MIRT488966	hsa-miR-4514	PAR-CLIP	23446348
MIRT488966	hsa-miR-4514	PAR-CLIP	22012620
MIRT488966	hsa-miR-4514	PAR-CLIP	20371350
MIRT488966	hsa-miR-4514	PAR-CLIP	26701625
MIRT488966	hsa-miR-4514	PAR-CLIP	27292025
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	23592263
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	23446348
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	22012620
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	20371350
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	26701625
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	27292025
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	23592263
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	23446348
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	22012620
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	20371350
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	26701625
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	27292025
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	23592263
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	23446348
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	22012620
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	20371350
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	26701625
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	27292025
MIRT616610	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT616610	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT616611	hsa-miR-550b-2-5p	HITS-CLIP	23824327
MIRT616611	hsa-miR-550b-2-5p	HITS-CLIP	19536157
MIRT616612	hsa-miR-4642	HITS-CLIP	23824327
MIRT616612	hsa-miR-4642	HITS-CLIP	19536157
MIRT616613	hsa-miR-4279	HITS-CLIP	23824327
MIRT616613	hsa-miR-4279	HITS-CLIP	19536157
MIRT616614	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT616614	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT616615	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT616615	hsa-miR-550a-5p	HITS-CLIP	19536157
MIRT616616	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT616616	hsa-miR-550a-3-5p	HITS-CLIP	19536157
MIRT616617	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT616617	hsa-miR-1271-3p	HITS-CLIP	19536157
MIRT616618	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT616618	hsa-miR-6889-3p	HITS-CLIP	19536157
MIRT616619	hsa-miR-5588-5p	HITS-CLIP	23824327
MIRT616619	hsa-miR-5588-5p	HITS-CLIP	19536157
MIRT616620	hsa-miR-4799-3p	HITS-CLIP	23824327
MIRT616620	hsa-miR-4799-3p	HITS-CLIP	19536157
MIRT616621	hsa-miR-4720-5p	HITS-CLIP	23824327
MIRT616621	hsa-miR-4720-5p	HITS-CLIP	19536157
MIRT616622	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT616622	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT616623	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT616623	hsa-miR-1914-5p	HITS-CLIP	19536157
MIRT616624	hsa-miR-8073	HITS-CLIP	23824327
MIRT616624	hsa-miR-8073	HITS-CLIP	19536157
MIRT616625	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT616625	hsa-miR-221-5p	HITS-CLIP	19536157
MIRT616626	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT616626	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT616627	hsa-miR-5193	HITS-CLIP	23824327
MIRT616627	hsa-miR-5193	HITS-CLIP	19536157
MIRT616628	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT616628	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT616629	hsa-miR-6779-3p	HITS-CLIP	23824327
MIRT646977	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT646978	hsa-miR-1233-3p	HITS-CLIP	23824327

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
HNF4A	Unknown	17894829

Show/Hide all(56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IBA	21873635
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	19805355
GO:0005515	Function	Protein binding	IPI	19805355, 32296183
GO:0005524	Function	ATP binding	ISS	12860923
GO:0005524	Function	ATP binding	TAS
GO:0005635	Component	Nuclear envelope	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	19805355
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	8923010
GO:0006006	Process	Glucose metabolic process	IMP	8923010, 15115830
GO:0008022	Function	Protein C-terminus binding	IEA
GO:0008282	Component	Inward rectifying potassium channel	IDA	19805355, 20610380
GO:0008282	Component	Inward rectifying potassium channel	ISS
GO:0014704	Component	Intercalated disc	IEA
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	IBA	21873635
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	ISS
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	NAS	28842488
GO:0019829	Function	ATPase-coupled cation transmembrane transporter activity	ISS
GO:0030315	Component	T-tubule	ISS
GO:0030506	Function	Ankyrin binding	IPI	20610380
GO:0030673	Component	Axolemma	IEA
GO:0030955	Function	Potassium ion binding	TAS	8923010
GO:0031072	Function	Heat shock protein binding	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0033198	Process	Response to ATP	IDA	15583126, 18073297
GO:0033574	Process	Response to testosterone	IEA
GO:0034765	Process	Regulation of ion transmembrane transport	IBA	21873635
GO:0042391	Process	Regulation of membrane potential	IDA	18073297
GO:0042493	Process	Response to drug	IMP	18073297
GO:0043025	Component	Neuronal cell body	IEA
GO:0043209	Component	Myelin sheath	IEA
GO:0044325	Function	Ion channel binding	IPI	20610380
GO:0046676	Process	Negative regulation of insulin secretion	IMP	8923010
GO:0050796	Process	Regulation of insulin secretion	IMP	15115830
GO:0050796	Process	Regulation of insulin secretion	TAS
GO:0050877	Process	Nervous system process	IMP	15115830, 18073297
GO:0055085	Process	Transmembrane transport	TAS
GO:0070852	Component	Cell body fiber	IEA
GO:0071316	Process	Cellular response to nicotine	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	19805355
GO:0071805	Process	Potassium ion transmembrane transport	NAS	28842488
GO:0098662	Process	Inorganic cation transmembrane transport	ISS
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IEA
GO:1903779	Process	Regulation of cardiac conduction	TAS
GO:1990573	Process	Potassium ion import across plasma membrane	IBA	21873635
GO:1990573	Process	Potassium ion import across plasma membrane	ISS
GO:2001259	Process	Positive regulation of cation channel activity	IEA

MIM	HGNC	e!Ensembl
600937	6257	ENSG00000187486

Protein

UniProt ID

Q14654

Protein name

ATP-sensitive inward rectifier potassium channel 11 (IKATP) (Inward rectifier K(+) channel Kir6.2) (Potassium channel, inwardly rectifying subfamily J member 11)

Protein function

This receptor is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium (By similarity). Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with ABCC9. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.

PDB

6C3O , 6C3P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01007	IRK	36 → 174	Inward rectifier potassium channel transmembrane domain	Domain
PF17655	IRK_C	181 → 354	Inward rectifier potassium channel C-terminal domain	Domain

Sequence

MLSRKGIIPEEYVLTRLAEDPAEPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVF
TTLVDLKWPHTLLIFTMSFLCSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSA
FLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCIFMKTAQAHRRAET
LIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM
ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQA
RTSYLADEILWGQRFVPIVAEEDGRYSVDYSKFGNTIKVPTPLCTARQLDEDHSLLEALT
LASARGPLRKRSVPMAKAKPKFSISPDSLS

Sequence length

390

Interactions

View interactions

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