Protein

ATP-sensitive inward rectifier potassium channel 11

Gene

KCNJ11

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

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.By similarity2 Publications

Sites

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Siteⁱ	160	Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity		1

GO - Molecular functionⁱ

ankyrin binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 20610380
ATP-activated inward rectifier potassium channel activity Source: BHF-UCL
ATP binding
Source: BHF-UCL
Inferred from sequence or structural similarityⁱ
- 12860923
heat shock protein binding Source: Ensembl
ion channel binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 20610380
potassium ion binding
Source: BHF-UCL
Traceable author statementⁱ
- 8923010
protein C-terminus binding Source: Ensembl
voltage-gated potassium channel activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 19805355

Complete GO annotation...

GO - Biological processⁱ

cellular response to glucose stimulus Source: Ensembl
cellular response to nicotine Source: Ensembl
cellular response to tumor necrosis factor Source: Ensembl
glucose metabolic process
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 15115830
- 8923010
negative regulation of insulin secretion
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 8923010
neurological system process
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 15115830
- 18073297
positive regulation of cation channel activity Source: Ensembl
positive regulation of protein targeting to plasma membrane Source: Ensembl
potassium ion import Source: BHF-UCL
potassium ion transmembrane transport
Source: BHF-UCL
Inferred from direct assayⁱ
- 19805355
regulation of cardiac conduction Source: Reactome
regulation of insulin secretion
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 15115830
regulation of membrane potential
Source: BHF-UCL
Inferred from direct assayⁱ
- 18073297
response to ATP
Source: BHF-UCL
Inferred from direct assayⁱ
- 18073297
- 15583126
response to drug
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 18073297
response to estradiol Source: Ensembl
response to ischemia Source: Ensembl
response to testosterone Source: Ensembl
transmembrane transport Source: Reactome

Complete GO annotation...

Keywordsⁱ

Molecular function	Ion channel, Voltage-gated channel
Biological process	Ion transport, Potassium transport, Transport
Ligand	Potassium

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1296025. ATP sensitive Potassium channels. R-HSA-382556. ABC-family proteins mediated transport. R-HSA-422356. Regulation of insulin secretion. R-HSA-5578775. Ion homeostasis. R-HSA-5683177. Defective ABCC8 can cause hypoglycemias and hyperglycemias.
SignaLinkⁱ	Q14654.
SIGNORⁱ	Q14654.

Protein family/group databases

TCDBⁱ	1.A.2.1.17. inward rectifier k(+) channel (irk-c) family.

TCDBⁱ

1.A.2.1.17. inward rectifier k(+) channel (irk-c) family.

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: ATP-sensitive inward rectifier potassium channel 11 Alternative name(s): IKATP Inward rectifier K(+) channel Kir6.2 Potassium channel, inwardly rectifying subfamily J member 11
Gene namesⁱ	Name:KCNJ11
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6257. KCNJ11.

HGNCⁱ

HGNC:6257. KCNJ11.

Subcellular locationⁱ

Membrane; Multi-pass membrane protein

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	1 – 68	CytoplasmicBy similarityAdd BLAST	68
Transmembraneⁱ	69 – 93	Helical; Name=M1By similarityAdd BLAST	25
Topological domainⁱ	94 – 116	ExtracellularBy similarityAdd BLAST	23
Intramembraneⁱ	117 – 128	Helical; Pore-forming; Name=H5By similarityAdd BLAST	12
Intramembraneⁱ	129 – 135	Pore-formingBy similarity	7
Topological domainⁱ	136 – 144	ExtracellularBy similarity	9
Transmembraneⁱ	145 – 166	Helical; Name=M2By similarityAdd BLAST	22
Topological domainⁱ	167 – 390	CytoplasmicBy similarityAdd BLAST	224

GO - Cellular componentⁱ

acrosomal vesicle Source: Ensembl
ATP-sensitive potassium channel complex
Source: BHF-UCL
Inferred from direct assayⁱ
- 19805355
axolemma Source: Ensembl
cell body fiber Source: Ensembl
cytosol Source: Ensembl
endoplasmic reticulum Source: Ensembl
endosome Source: Ensembl
integral component of plasma membrane
Source: ProtInc
Traceable author statementⁱ
- 8923010
intercalated disc Source: Ensembl
mitochondrion Source: Ensembl
myelin sheath Source: Ensembl
neuronal cell body Source: Ensembl
nuclear envelope Source: Ensembl
plasma membrane
Source: BHF-UCL
Inferred from direct assayⁱ
- 19805355
T-tubule Source: BHF-UCL
voltage-gated potassium channel complex
Source: BHF-UCL
Inferred from direct assayⁱ
- 20610380

Complete GO annotation...

Keywords - Cellular componentⁱ

Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Familial hyperinsulinemic hypoglycemia 2 (HHF2)12 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionMost common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_031329	34	R → H in HHF2. 1 Publication	1
Natural variantⁱVAR_031330	40	G → D in HHF2. 1 Publication	1
Natural variantⁱVAR_031335	55	F → L in HHF2; does neither affect channel expression nor channel response to MgADP. 2 Publications	1
Natural variantⁱVAR_026506	67	K → N in HHF2. 1 Publication	1
Natural variantⁱVAR_026507	91	W → R in HHF2. 1 Publication	1
Natural variantⁱVAR_031336	101	A → D in HHF2. 2 Publications	1
Natural variantⁱVAR_031337	116	S → P in HHF2. 1 Publication	1
Natural variantⁱVAR_031338	134	G → A in HHF2. 1 Publication	1
Natural variantⁱVAR_031339	136	R → L in HHF2. 2 Publications	1
Natural variantⁱVAR_001557	147	L → P in HHF2. 2 PublicationsCorresponds to variant dbSNP:rs28936678Ensembl.	1
Natural variantⁱVAR_073683	156	G → R in HHF2. 1 Publication	1
Natural variantⁱVAR_073685	204	D → E in HHF2. 1 Publication	1
Natural variantⁱVAR_026513	254	P → L in HHF2; impairs trafficking of the mutant channel. 1 Publication	1
Natural variantⁱVAR_031345	259	H → R in HHF2; impairs trafficking and abolishes channel function. 1 Publication	1
Natural variantⁱVAR_031346	266	P → L in HHF2. 1 Publication	1
Natural variantⁱVAR_073687	282	E → K in HHF2; prevents the ER export and surface expression of the channel. 1 Publication	1
Natural variantⁱVAR_031347	301	R → H in HHF2. 2 Publications	1

Diabetes mellitus, permanent neonatal (PNDM)12 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_026498	35	F → L in PNDM. 1 Publication	1
Natural variantⁱVAR_026499	35	F → V in PNDM. 1 Publication	1
Natural variantⁱVAR_031332	46	H → Y in PNDM; one patient with mild dysmorphic features. 2 Publications	1
Natural variantⁱVAR_026500	50	R → P in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current; one patient with developmental delay. 2 Publications	1
Natural variantⁱVAR_031333	50	R → Q in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current. 2 Publications	1
Natural variantⁱVAR_026501	52	Q → R in PNDM; with developmental delay and epilepsy; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201. 3 Publications	1
Natural variantⁱVAR_031334	53	G → D in PNDM; with developmental delay and epilepsy. 1 Publication	1
Natural variantⁱVAR_026502	53	G → R in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication	1
Natural variantⁱVAR_026503	53	G → S in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication	1
Natural variantⁱVAR_026504	59	V → G in PNDM; with developmental delay and epilepsy; with neurologic features; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201; decreases ATP sensitivity indirectly by favoring the open conformation of the channel. 3 Publications	1
Natural variantⁱVAR_026505	59	V → M in PNDM; four patients with developmental delay and muscle weakness. 5 Publications	1
Natural variantⁱVAR_073681	60	F → Y in PNDM; present on the same allele as L-64; increases the intrinsic channel open probability. 1 Publication	1
Natural variantⁱVAR_073682	64	V → L in PNDM; present on the same allele as Y-60; enhances the ability of MgATP to stimulate channel activity. 1 Publication	1
Natural variantⁱVAR_031341	164	L → P in PNDM. 2 Publications	1
Natural variantⁱVAR_031342	166	C → Y in PNDM; individual also diagnosed with West syndrome. 1 Publication	1
Natural variantⁱVAR_073684	167	I → L in PNDM; has severely impaired sensitivity to ATP and markedly increases open channel probability. 1 Publication	1
Natural variantⁱVAR_026508	170	K → N in PNDM. 1 Publication	1
Natural variantⁱVAR_026509	170	K → R in PNDM. 1 Publication	1
Natural variantⁱVAR_031343	170	K → T in PNDM. 1 Publication	1
Natural variantⁱVAR_026511	201	R → C in PNDM; two individuals with developmental delay; produces smaller current and less change in ATP sensitivity than mutations associated with severe disease R-52 and G-59. 6 Publications	1
Natural variantⁱVAR_026512	201	R → H in PNDM; ability of ATP to block mutant channels greatly reduced. 5 Publications	1
Natural variantⁱVAR_031344	201	R → L in PNDM. 1 Publication	1
Natural variantⁱVAR_026514	296	I → L in PNDM; with developmental delay and epilepsy. 2 Publications	1
Natural variantⁱVAR_026515	322	E → K in PNDM. 1 Publication	1
Natural variantⁱVAR_026516	330	Y → C in PNDM. 2 Publications	1
Natural variantⁱVAR_031348	330	Y → S in PNDM. 1 Publication	1
Natural variantⁱVAR_026517	333	F → I in PNDM; alters gating characteristics, decreases sensitivity to inhibition by ATP and increases intrinsic open probability. 2 Publications	1

Transient neonatal diabetes mellitus 3 (TNDM3)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionNeonatal diabetes mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. In a significant number of patients with transient neonatal diabetes mellitus, diabetes type 2 appears later in life. The onset and severity of TNDM3 is variable with childhood-onset diabetes, gestational diabetes or adult-onset diabetes described.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_031331	42	C → R in TNDM3; increased spontaneous open probability; reduced ATP sensitivity; reduced expression at the cell surface of the functional ATP-sensitive form. 1 Publication	1
Natural variantⁱVAR_026502	53	G → R in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication	1
Natural variantⁱVAR_026503	53	G → S in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication	1
Natural variantⁱVAR_026510	182	I → V in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication	1

Maturity-onset diabetes of the young 13 (MODY13)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_073686	227	E → K in MODY13. 1 Publication		1

Keywords - Diseaseⁱ

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3767.
MalaCards human disease database More...MalaCardsⁱ	KCNJ11.
MIMⁱ	601820. phenotype. 606176. phenotype. 610582. phenotype. 616329. phenotype.
Orphanetⁱ	276580. Autosomal dominant hyperinsulinism due to Kir6.2 deficiency. 79644. Autosomal recessive hyperinsulinism due to Kir6.2 deficiency. 79134. DEND syndrome. 276603. Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency. 99989. Intermediate DEND syndrome. 552. MODY. 99885. Permanent neonatal diabetes mellitus. 99886. Transient neonatal diabetes mellitus.
PharmGKBⁱ	PA217.

Chemistry databases

ChEMBLⁱ	CHEMBL1886.
Drug and drug target database More...DrugBankⁱ	DB01119. Diazoxide. DB00222. Glimepiride. DB01016. Glyburide. DB00308. Ibutilide. DB00922. Levosimendan. DB01154. Thiamylal. DB00839. Tolazamide. DB00661. Verapamil. DB01392. Yohimbine.

Polymorphism and mutation databases

BioMutaⁱ	KCNJ11.
DMDMⁱ	76803775.

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000154957	1 – 390	ATP-sensitive inward rectifier potassium channel 11Add BLAST		390

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	341	Phosphothreonine; by MAPK11 Publication		1
Modified residueⁱ	385	Phosphoserine; by MAPK11 Publication		1

Post-translational modificationⁱ

Phosphorylation by MAPK1 results in changes in channel gating that destabilize the closed states and reduce the ATP sensitivity.1 Publication

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

PaxDbⁱ	Q14654.
PeptideAtlas More...PeptideAtlasⁱ	Q14654.
PRIDEⁱ	Q14654.

PTM databases

iPTMnetⁱ	Q14654.
PhosphoSitePlusⁱ	Q14654.

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000187486.
CleanExⁱ	HS_KCNJ11.
ExpressionAtlasⁱ	Q14654. baseline and differential.
Genevisibleⁱ	Q14654. HS.

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA048891.

HPAⁱ

HPA048891.

Interactionⁱ

Subunit structureⁱ

Interacts with ABCC8/SUR. Interacts with ABCC9/SUR2.2 Publications

GO - Molecular functionⁱ

ankyrin binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 20610380
heat shock protein binding Source: Ensembl
ion channel binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 20610380
protein C-terminus binding Source: Ensembl

Complete GO annotation...

Protein-protein interaction databases

BioGridⁱ	109969. 12 interactors.
Database of interacting proteins More...DIPⁱ	DIP-58643N.
IntActⁱ	Q14654. 4 interactors.
STRINGⁱ	9606.ENSP00000345708.

Chemistry databases

BindingDBⁱ

Q14654.

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q14654.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	130 – 135	Selectivity filterBy similarity		6

Sequence similaritiesⁱ

Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ11 subfamily. [View classification]Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG3827. Eukaryota. ENOG410XQ62. LUCA.
HOGENOMⁱ	HOG000237325.
HOVERGENⁱ	HBG006178.
InParanoidⁱ	Q14654.
KEGG Orthology (KO) More...KOⁱ	K05004.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G08HC.
PhylomeDBⁱ	Q14654.
TreeFamⁱ	TF313676.

Family and domain databases

Gene3Dⁱ	2.60.40.1400. 1 hit.
InterProⁱ	View protein in InterPro IPR014756. Ig_E-set. IPR016449. K_chnl_inward-rec_Kir. IPR003279. K_chnl_inward-rec_Kir6.2. IPR013518. K_chnl_inward-rec_Kir_cyto.
PANTHERⁱ	PTHR11767. PTHR11767. 1 hit. PTHR11767:SF83. PTHR11767:SF83. 1 hit.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01007. IRK. 1 hit.
PIRSFⁱ	PIRSF005465. GIRK_kir. 1 hit.
PRINTSⁱ	PR01332. KIR62CHANNEL. PR01320. KIRCHANNEL.
SUPFAMⁱ	SSF81296. SSF81296. 1 hit.

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform 1 (identifier: Q14654-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLSRKGIIPE EYVLTRLAED PAEPRYRARQ RRARFVSKKG NCNVAHKNIR 
        60         70         80         90        100
EQGRFLQDVF TTLVDLKWPH TLLIFTMSFL CSWLLFAMAW WLIAFAHGDL 
       110        120        130        140        150
APSEGTAEPC VTSIHSFSSA FLFSIEVQVT IGFGGRMVTE ECPLAILILI 
       160        170        180        190        200
VQNIVGLMIN AIMLGCIFMK TAQAHRRAET LIFSKHAVIA LRHGRLCFML 
       210        220        230        240        250
RVGDLRKSMI ISATIHMQVV RKTTSPEGEV VPLHQVDIPM ENGVGGNSIF 
       260        270        280        290        300
LVAPLIIYHV IDANSPLYDL APSDLHHHQD LEIIVILEGV VETTGITTQA 
       310        320        330        340        350
RTSYLADEIL WGQRFVPIVA EEDGRYSVDY SKFGNTIKVP TPLCTARQLD 
       360        370        380        390
EDHSLLEALT LASARGPLRK RSVPMAKAKP KFSISPDSLS

Length:390

Mass (Da):43,541

Last modified:September 27, 2005 - v2

Checksum:ⁱ8345E7DBCE897344

Isoform 2 (identifier: Q14654-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-87: Missing.

« Hide

        10         20         30         40         50
MAWWLIAFAH GDLAPSEGTA EPCVTSIHSF SSAFLFSIEV QVTIGFGGRM 
        60         70         80         90        100
VTEECPLAIL ILIVQNIVGL MINAIMLGCI FMKTAQAHRR AETLIFSKHA 
       110        120        130        140        150
VIALRHGRLC FMLRVGDLRK SMIISATIHM QVVRKTTSPE GEVVPLHQVD 
       160        170        180        190        200
IPMENGVGGN SIFLVAPLII YHVIDANSPL YDLAPSDLHH HQDLEIIVIL 
       210        220        230        240        250
EGVVETTGIT TQARTSYLAD EILWGQRFVP IVAEEDGRYS VDYSKFGNTI 
       260        270        280        290        300
KVPTPLCTAR QLDEDHSLLE ALTLASARGP LRKRSVPMAK AKPKFSISPD 

SLS

Show »

Length:303

Mass (Da):33,263

Checksum:ⁱCBB99A32291CD64B

Sequence cautionⁱ

The sequence AAH40617 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	370	K → E in BAG63046 (PubMed:14702039).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_008659	10	E → K Rare polymorphism. 1 Publication	1
Natural variantⁱVAR_055978	18	A → G. Corresponds to variant dbSNP:rs41309072Ensembl.	1
Natural variantⁱVAR_008660	23	E → K Linked to V-337. 6 PublicationsCorresponds to variant dbSNP:rs5219Ensembl.	1
Natural variantⁱVAR_031329	34	R → H in HHF2. 1 Publication	1
Natural variantⁱVAR_026498	35	F → L in PNDM. 1 Publication	1
Natural variantⁱVAR_026499	35	F → V in PNDM. 1 Publication	1
Natural variantⁱVAR_031330	40	G → D in HHF2. 1 Publication	1
Natural variantⁱVAR_031331	42	C → R in TNDM3; increased spontaneous open probability; reduced ATP sensitivity; reduced expression at the cell surface of the functional ATP-sensitive form. 1 Publication	1
Natural variantⁱVAR_031332	46	H → Y in PNDM; one patient with mild dysmorphic features. 2 Publications	1
Natural variantⁱVAR_026500	50	R → P in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current; one patient with developmental delay. 2 Publications	1
Natural variantⁱVAR_031333	50	R → Q in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current. 2 Publications	1
Natural variantⁱVAR_026501	52	Q → R in PNDM; with developmental delay and epilepsy; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201. 3 Publications	1
Natural variantⁱVAR_031334	53	G → D in PNDM; with developmental delay and epilepsy. 1 Publication	1
Natural variantⁱVAR_026502	53	G → R in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication	1
Natural variantⁱVAR_026503	53	G → S in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication	1
Natural variantⁱVAR_031335	55	F → L in HHF2; does neither affect channel expression nor channel response to MgADP. 2 Publications	1
Natural variantⁱVAR_026504	59	V → G in PNDM; with developmental delay and epilepsy; with neurologic features; produces larger current and more change in ATP sensitivity than mutation associated with mild disease C-201; decreases ATP sensitivity indirectly by favoring the open conformation of the channel. 3 Publications	1
Natural variantⁱVAR_026505	59	V → M in PNDM; four patients with developmental delay and muscle weakness. 5 Publications	1
Natural variantⁱVAR_073681	60	F → Y in PNDM; present on the same allele as L-64; increases the intrinsic channel open probability. 1 Publication	1
Natural variantⁱVAR_073682	64	V → L in PNDM; present on the same allele as Y-60; enhances the ability of MgATP to stimulate channel activity. 1 Publication	1
Natural variantⁱVAR_026506	67	K → N in HHF2. 1 Publication	1
Natural variantⁱVAR_026507	91	W → R in HHF2. 1 Publication	1
Natural variantⁱVAR_031336	101	A → D in HHF2. 2 Publications	1
Natural variantⁱVAR_031337	116	S → P in HHF2. 1 Publication	1
Natural variantⁱVAR_031338	134	G → A in HHF2. 1 Publication	1
Natural variantⁱVAR_031339	136	R → L in HHF2. 2 Publications	1
Natural variantⁱVAR_001557	147	L → P in HHF2. 2 PublicationsCorresponds to variant dbSNP:rs28936678Ensembl.	1
Natural variantⁱVAR_031340	148	I → S2 Publications	1
Natural variantⁱVAR_073683	156	G → R in HHF2. 1 Publication	1
Natural variantⁱVAR_031341	164	L → P in PNDM. 2 Publications	1
Natural variantⁱVAR_031342	166	C → Y in PNDM; individual also diagnosed with West syndrome. 1 Publication	1
Natural variantⁱVAR_073684	167	I → L in PNDM; has severely impaired sensitivity to ATP and markedly increases open channel probability. 1 Publication	1
Natural variantⁱVAR_026508	170	K → N in PNDM. 1 Publication	1
Natural variantⁱVAR_026509	170	K → R in PNDM. 1 Publication	1
Natural variantⁱVAR_031343	170	K → T in PNDM. 1 Publication	1
Natural variantⁱVAR_026510	182	I → V in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. 1 Publication	1
Natural variantⁱVAR_014929	195	R → H. Corresponds to variant dbSNP:rs5217Ensembl.	1
Natural variantⁱVAR_026511	201	R → C in PNDM; two individuals with developmental delay; produces smaller current and less change in ATP sensitivity than mutations associated with severe disease R-52 and G-59. 6 Publications	1
Natural variantⁱVAR_026512	201	R → H in PNDM; ability of ATP to block mutant channels greatly reduced. 5 Publications	1
Natural variantⁱVAR_031344	201	R → L in PNDM. 1 Publication	1
Natural variantⁱVAR_073685	204	D → E in HHF2. 1 Publication	1
Natural variantⁱVAR_073686	227	E → K in MODY13. 1 Publication	1
Natural variantⁱVAR_026513	254	P → L in HHF2; impairs trafficking of the mutant channel. 1 Publication	1
Natural variantⁱVAR_031345	259	H → R in HHF2; impairs trafficking and abolishes channel function. 1 Publication	1
Natural variantⁱVAR_031346	266	P → L in HHF2. 1 Publication	1
Natural variantⁱVAR_008661	270	L → V2 PublicationsCorresponds to variant dbSNP:rs1800467Ensembl.	1
Natural variantⁱVAR_073687	282	E → K in HHF2; prevents the ER export and surface expression of the channel. 1 Publication	1
Natural variantⁱVAR_026514	296	I → L in PNDM; with developmental delay and epilepsy. 2 Publications	1
Natural variantⁱVAR_031347	301	R → H in HHF2. 2 Publications	1
Natural variantⁱVAR_026515	322	E → K in PNDM. 1 Publication	1
Natural variantⁱVAR_026516	330	Y → C in PNDM. 2 Publications	1
Natural variantⁱVAR_031348	330	Y → S in PNDM. 1 Publication	1
Natural variantⁱVAR_026517	333	F → I in PNDM; alters gating characteristics, decreases sensitivity to inhibition by ATP and increases intrinsic open probability. 2 Publications	1
Natural variantⁱVAR_008662	337	I → V Linked to K-23. 6 PublicationsCorresponds to variant dbSNP:rs5215Ensembl.	1
Natural variantⁱVAR_008663	355	L → P in NIDDM; Afro-Caribbean. 1 Publication	1
Natural variantⁱVAR_008664	380	P → PKP in NIDDM.	1
Natural variantⁱVAR_008665	385	S → C1 PublicationCorresponds to variant dbSNP:rs41282930Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_045270	1 – 87	Missing in isoform 2. 2 PublicationsAdd BLAST		87

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	D50582 Genomic DNA. Translation: BAA09131.1. AK301550 mRNA. Translation: BAG63046.1. AC124798 Genomic DNA. No translation available. BC064497 mRNA. Translation: AAH64497.1. BC040617 mRNA. Translation: AAH40617.1. Different initiation. BC112358 mRNA. Translation: AAI12359.1.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS31436.1. [Q14654-1] CCDS53606.1. [Q14654-2]
PIRⁱ	A57616.
NCBI Reference Sequences More...RefSeqⁱ	NP_001159762.1. NM_001166290.1.
UniGeneⁱ	Hs.248141.

Genome annotation databases

Ensemblⁱ	ENST00000339994; ENSP00000345708; ENSG00000187486. ENST00000528731; ENSP00000434755; ENSG00000187486.
GeneIDⁱ	3767.
KEGGⁱ	hsa:3767.
UCSC genome browser More...UCSCⁱ	uc001mna.4. human. [Q14654-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	D50582 Genomic DNA. Translation: BAA09131.1. AK301550 mRNA. Translation: BAG63046.1. AC124798 Genomic DNA. No translation available. BC064497 mRNA. Translation: AAH64497.1. BC040617 mRNA. Translation: AAH40617.1. Different initiation. BC112358 mRNA. Translation: AAI12359.1.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS31436.1. [Q14654-1] CCDS53606.1. [Q14654-2]
PIRⁱ	A57616.
NCBI Reference Sequences More...RefSeqⁱ	NP_001159762.1. NM_001166290.1.
UniGeneⁱ	Hs.248141.

3D structure databases

ProteinModelPortalⁱ	Q14654.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	109969. 12 interactors.
Database of interacting proteins More...DIPⁱ	DIP-58643N.
IntActⁱ	Q14654. 4 interactors.
STRINGⁱ	9606.ENSP00000345708.

Chemistry databases

BindingDBⁱ	Q14654.
ChEMBLⁱ	CHEMBL1886.
Drug and drug target database More...DrugBankⁱ	DB01119. Diazoxide. DB00222. Glimepiride. DB01016. Glyburide. DB00308. Ibutilide. DB00922. Levosimendan. DB01154. Thiamylal. DB00839. Tolazamide. DB00661. Verapamil. DB01392. Yohimbine.

Protein family/group databases

TCDBⁱ	1.A.2.1.17. inward rectifier k(+) channel (irk-c) family.

TCDBⁱ

1.A.2.1.17. inward rectifier k(+) channel (irk-c) family.

PTM databases

iPTMnetⁱ	Q14654.
PhosphoSitePlusⁱ	Q14654.

Polymorphism and mutation databases

BioMutaⁱ	KCNJ11.
DMDMⁱ	76803775.

Proteomic databases

PaxDbⁱ	Q14654.
PeptideAtlas More...PeptideAtlasⁱ	Q14654.
PRIDEⁱ	Q14654.

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000339994; ENSP00000345708; ENSG00000187486. ENST00000528731; ENSP00000434755; ENSG00000187486.
GeneIDⁱ	3767.
KEGGⁱ	hsa:3767.
UCSC genome browser More...UCSCⁱ	uc001mna.4. human. [Q14654-1]

Organism-specific databases

CTDⁱ	3767.
DisGeNET More...DisGeNETⁱ	3767.
GeneCardsⁱ	KCNJ11.
GeneReviewsⁱ	KCNJ11.
H-InvDBⁱ	HIX0035982.
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6257. KCNJ11.
Human Protein Atlas More...HPAⁱ	HPA048891.
MalaCards human disease database More...MalaCardsⁱ	KCNJ11.
MIMⁱ	600937. gene. 601820. phenotype. 606176. phenotype. 610582. phenotype. 616329. phenotype.
neXtProtⁱ	NX_Q14654.
Orphanetⁱ	276580. Autosomal dominant hyperinsulinism due to Kir6.2 deficiency. 79644. Autosomal recessive hyperinsulinism due to Kir6.2 deficiency. 79134. DEND syndrome. 276603. Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency. 99989. Intermediate DEND syndrome. 552. MODY. 99885. Permanent neonatal diabetes mellitus. 99886. Transient neonatal diabetes mellitus.
PharmGKBⁱ	PA217.
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3827. Eukaryota. ENOG410XQ62. LUCA.
HOGENOMⁱ	HOG000237325.
HOVERGENⁱ	HBG006178.
InParanoidⁱ	Q14654.
KEGG Orthology (KO) More...KOⁱ	K05004.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G08HC.
PhylomeDBⁱ	Q14654.
TreeFamⁱ	TF313676.

Enzyme and pathway databases

Reactomeⁱ	R-HSA-1296025. ATP sensitive Potassium channels. R-HSA-382556. ABC-family proteins mediated transport. R-HSA-422356. Regulation of insulin secretion. R-HSA-5578775. Ion homeostasis. R-HSA-5683177. Defective ABCC8 can cause hypoglycemias and hyperglycemias.
SignaLinkⁱ	Q14654.
SIGNORⁱ	Q14654.

Miscellaneous databases

GeneWikiⁱ	Kir6.2.
GenomeRNAiⁱ	3767.
Protein Ontology More...PROⁱ	PR:Q14654.
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000187486.
CleanExⁱ	HS_KCNJ11.
ExpressionAtlasⁱ	Q14654. baseline and differential.
Genevisibleⁱ	Q14654. HS.

Family and domain databases

Gene3Dⁱ	2.60.40.1400. 1 hit.
InterProⁱ	View protein in InterPro IPR014756. Ig_E-set. IPR016449. K_chnl_inward-rec_Kir. IPR003279. K_chnl_inward-rec_Kir6.2. IPR013518. K_chnl_inward-rec_Kir_cyto.
PANTHERⁱ	PTHR11767. PTHR11767. 1 hit. PTHR11767:SF83. PTHR11767:SF83. 1 hit.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01007. IRK. 1 hit.
PIRSFⁱ	PIRSF005465. GIRK_kir. 1 hit.
PRINTSⁱ	PR01332. KIR62CHANNEL. PR01320. KIRCHANNEL.
SUPFAMⁱ	SSF81296. SSF81296. 1 hit.
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	KCJ11_HUMAN
Accessionⁱ	Q14654Primary (citable) accession number: Q14654 Secondary accession number(s): B4DWI4 , E9PNK0, Q2M1H7, Q58EX3, Q8IW96
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
	Last sequence update:	September 27, 2005
	Last modified:	June 7, 2017
	This is version 185 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
SIMILARITY comments
Index of protein domains and families

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

UniProtKB

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UniRef

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Supporting data

UniProtKB - Q14654 (KCJ11_HUMAN)

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ATP-sensitive inward rectifier potassium channel 11

KCNJ11

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Protein-protein interaction databases

Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Documents

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequences (2)ⁱ

Sequence cautionⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ