ATP-sensitive inward rectifier potassium channel 11

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Reviewed, UniProtKB/Swiss-Prot Q14654 (IRK11_HUMAN)

Last modified January 19, 2010. Version 111. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

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

Gene names

Name:

KCNJ11

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	390 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

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General annotation (Comments)

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 structure	Associates with ABCC8/SUR.
Subcellular location	Membrane; Multi-pass membrane protein.
Involvement in disease	Defects in KCNJ11 are the cause of familial hyperinsulinemic hypoglycemia type 2 (HHF2) [MIM:601820]; also known as persistent hyperinsulinemic hypoglycemia of infancy (PPHI) or congenital hyperinsulinism. HHF is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. It causes nesidioblastosis, a diffuse abnormality of the pancreas in which there is extensive, often disorganized formation of new islets. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. Ref.5 Ref.6 Ref.9 Ref.11 Ref.15 Ref.19 Ref.22 Ref.24 Ref.28 Ref.29 Defects in KCNJ11 are a cause of permanent neonatal diabetes mellitus (PNDM) [MIM:606176]. PNDM is a rare form of diabetes characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Ref.12 Ref.13 Ref.14 Ref.16 Ref.18 Ref.21 Ref.25 Ref.26 Ref.30 Defects in KCNJ11 are the cause of transient neonatal diabetes mellitus type 3 (TNDM3) [MIM:610582]. Neonatal 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. Ref.20 Ref.23 Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as diabetes mellitus type 2. Ref.7
Sequence similarities	Belongs to the inward rectifier-type potassium channel family.

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Ontologies

Keywords
Biological process	Ion transport Potassium transport Transport
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Diabetes mellitus Disease mutation
Domain	Transmembrane
Ligand	Potassium
Molecular function	Ionic channel Voltage-gated channel
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	glucose metabolic process Ref.6 Ref.16 Inferred from mutant phenotype. Source: UniProtKB negative regulation of insulin secretion Ref.6 Inferred from mutant phenotype. Source: UniProtKB neurological system process Ref.16 Inferred from mutant phenotype. Source: UniProtKB potassium ion import Inferred from sequence or structural similarity. Source: UniProtKB regulation of membrane potential Inferred from direct assay. Source: UniProtKB response to ATP Ref.18 Inferred from direct assay. Source: UniProtKB response to drug Inferred from mutant phenotype. Source: UniProtKB
Cellular component	ATP-sensitive potassium channel complex Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	ATP binding Inferred from sequence or structural similarity. Source: UniProtKB ATP-activated inward rectifier potassium channel activity Inferred from sequence or structural similarity. Source: UniProtKB potassium ion binding Ref.6 Traceable author statement. Source: UniProtKB
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 390

390

ATP-sensitive inward rectifier potassium channel 11

PRO_0000154957

Regions

Topological domain

1 – 68

Cytoplasmic By similarity

Transmembrane

69 – 93

M1 By similarity

Topological domain

94 – 116

Extracellular By similarity

Topological domain

136 – 144

Extracellular By similarity

Transmembrane

145 – 166

M2 By similarity

Topological domain

167 – 390

224

Cytoplasmic By similarity

Region

117 – 128

H5 (pore-forming helix) By similarity

Motif

130 – 135

Selectivity filter By similarity

Sites

Site

160

Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium By similarity

Natural variations

Natural variant

E → K Rare polymorphism. Ref.8

VAR_008659

Natural variant

A → G: dbSNP rs41309072.

VAR_055978

Natural variant

E → K Linked to V-337. dbSNP rs5219. Ref.19 Ref.7 Ref.8 Ref.10 Ref.27

VAR_008660

Natural variant

R → H in HHF2. Ref.19

VAR_031329

Natural variant

F → L in PNDM. Ref.13

VAR_026498

Natural variant

F → V in PNDM. Ref.12

VAR_026499

Natural variant

G → D in HHF2. Ref.29

VAR_031330

Natural variant

C → R in TNDM3; increased spontaneous open probability; reduced ATP sensitivity; reduced expression at the cell surface of the functional ATP-sensitive form. Ref.23

VAR_031331

Natural variant

H → Y in PNDM; one patient with mild dysmorphic features. Ref.26 Ref.30

VAR_031332

Natural variant

R → P in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current; one patient with developmental delay. Ref.21 Ref.25

VAR_026500

Natural variant

R → Q in PNDM; decreased inhibition by ATP; enhanced activation by Mg(2+); increased current. Ref.25 Ref.26

VAR_031333

Natural variant

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. Ref.16 Ref.18 Ref.26

VAR_026501

Natural variant

G → D in PNDM; with developmental delay and epilepsy. Ref.26

VAR_031334

Natural variant

G → R in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. Ref.20

VAR_026502

Natural variant

G → S in TNDM3; also found in a family member with PNDM; reduction in the sensitivity to ATP when compared with wild-type. Ref.20

VAR_026503

Natural variant

F → L in HHF2; does neither affect channel expression nor channel response to MgADP. Ref.28

VAR_031335

Natural variant

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. Ref.16 Ref.18 Ref.26

VAR_026504

Natural variant

V → M in PNDM; four patients with developmental delay and muscle weakness. Ref.12 Ref.13 Ref.16 Ref.21 Ref.26

VAR_026505

Natural variant

K → N in HHF2. Ref.11

VAR_026506

Natural variant

W → R in HHF2. Ref.9

VAR_026507

Natural variant

101

A → D in HHF2. Ref.22 Ref.29

VAR_031336

Natural variant

116

S → P in HHF2. Ref.29

VAR_031337

Natural variant

134

G → A in HHF2. Ref.22

VAR_031338

Natural variant

136

R → L in HHF2. Ref.22 Ref.29

VAR_031339

Natural variant

147

L → P in HHF2. dbSNP rs28936678. Ref.5 Ref.6

VAR_001557

Natural variant

148

I → S

VAR_031340

Natural variant

164

L → P in PNDM. Ref.26 Ref.30

VAR_031341

Natural variant

166

C → Y in PNDM; individual also diagnosed with West syndrome. Ref.26

VAR_031342

Natural variant

170

K → N in PNDM. Ref.21

VAR_026508

Natural variant

170

K → R in PNDM. Ref.21

VAR_026509

Natural variant

170

K → T in PNDM. Ref.26

VAR_031343

Natural variant

182

I → V in TNDM3; reduction in the sensitivity to ATP when compared with wild-type. Ref.20

VAR_026510

Natural variant

195

R → H: dbSNP rs5217.

VAR_014929

Natural variant

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. Ref.13 Ref.14 Ref.16 Ref.18 Ref.21 Ref.26

VAR_026511

Natural variant

201

R → H in PNDM; ability of ATP to block mutant channels greatly reduced. Ref.12 Ref.13 Ref.16 Ref.26 Ref.30

VAR_026512

Natural variant

201

R → L in PNDM. Ref.26

VAR_031344

Natural variant

254

P → L in HHF2; impairs trafficking of the mutant channel. Ref.15

VAR_026513

Natural variant

259

H → R in HHF2; impairs trafficking and abolishes channel function. Ref.24

VAR_031345

Natural variant

266

P → L in HHF2. Ref.22

VAR_031346

Natural variant

270

L → V: dbSNP rs1800467. Ref.7 Ref.8

VAR_008661

Natural variant

296

I → L in PNDM; with developmental delay and epilepsy. Ref.16 Ref.26

VAR_026514

Natural variant

301

R → H in HHF2. Ref.22 Ref.29

VAR_031347

Natural variant

322

E → K in PNDM. Ref.13

VAR_026515

Natural variant

330

Y → C in PNDM. Ref.12 Ref.13

VAR_026516

Natural variant

330

Y → S in PNDM. Ref.26

VAR_031348

Natural variant

333

F → I in PNDM. Ref.12

VAR_026517

Natural variant

337

I → V Linked to K-23. dbSNP rs5215. Ref.19 Ref.7 Ref.8 Ref.10 Ref.27

VAR_008662

Natural variant

355

L → P in NIDDM; Afro-Caribbean. Ref.7

VAR_008663

Natural variant

380

P → PKP in NIDDM.

VAR_008664

Natural variant

385

S → C: dbSNP rs41282930. Ref.7

VAR_008665

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Sequences

Sequence

Length

Mass (Da)

Tools

Q14654-1 [UniParc].

Last modified September 27, 2005. Version 2.
Checksum: 8345E7DBCE897344
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FASTA

390

43,541

        10         20         30         40         50         60 
MLSRKGIIPE EYVLTRLAED PAEPRYRARQ RRARFVSKKG NCNVAHKNIR EQGRFLQDVF 

        70         80         90        100        110        120 
TTLVDLKWPH TLLIFTMSFL CSWLLFAMAW WLIAFAHGDL APSEGTAEPC VTSIHSFSSA 

       130        140        150        160        170        180 
FLFSIEVQVT IGFGGRMVTE ECPLAILILI VQNIVGLMIN AIMLGCIFMK TAQAHRRAET 

       190        200        210        220        230        240 
LIFSKHAVIA LRHGRLCFML RVGDLRKSMI ISATIHMQVV RKTTSPEGEV VPLHQVDIPM 

       250        260        270        280        290        300 
ENGVGGNSIF LVAPLIIYHV IDANSPLYDL APSDLHHHQD LEIIVILEGV VETTGITTQA 

       310        320        330        340        350        360 
RTSYLADEIL WGQRFVPIVA EEDGRYSVDY SKFGNTIKVP TPLCTARQLD EDHSLLEALT 

       370        380        390 
LASARGPLRK RSVPMAKAKP KFSISPDSLS

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor." Inagaki N., Gonoi T., Clement J.P. IV, Namba N., Inazawa J., Gonzalez G., Aguilar-Bryan L., Seino S., Bryan J. Science 270:1166-1170(1995) [PubMed: 7502040] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-148. Tissue: Placenta.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Spleen.
[3]	"Molecular basis for Kir6.2 channel inhibition by adenine nucleotides." Ribalet B., John S.A., Weiss J.N. Biophys. J. 84:266-276(2003) [PubMed: 12524280] [Abstract] Cited for: MOLECULAR BASIS OF ATP SENSITIVITY.
[4]	"Congenital hyperinsulinism: molecular basis of a heterogeneous disease." Meissner T., Beinbrech B., Mayatepek E. Hum. Mutat. 13:351-361(1999) [PubMed: 10338089] [Abstract] Cited for: REVIEW ON VARIANTS.
[5]	"Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy." Thomas P.M., Cote G.J., Hallman D.M., Mathew P.M. Am. J. Hum. Genet. 56:416-421(1995) [PubMed: 7847376] [Abstract] Cited for: VARIANT HHF2 PRO-147.
[6]	"Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy." Thomas P., Ye Y., Lightner E. Hum. Mol. Genet. 5:1809-1812(1996) [PubMed: 8923010] [Abstract] Cited for: VARIANT HHF2 PRO-147.
[7]	"Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in white Caucasian subjects or evidence of abnormal function when expressed in vitro." Sakura H., Wat N., Horton V., Millns H., Turner R.C., Ashcroft F.M. Diabetologia 39:1233-1236(1996) [PubMed: 8897013] [Abstract] Cited for: VARIANTS NIDDM PRO-355 AND LYS-PRO-380 INS, VARIANTS LYS-23; VAL-270; VAL-337 AND CYS-385.
[8]	"Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM." Inoue H., Ferrer J., Warren-Perry M., Zhang Y., Millns H., Turner R.C., Elbein S.C., Hampe C.L., Suarez B.K., Inagaki N., Seino S., Permutt M.A. Diabetes 46:502-507(1997) [PubMed: 9032109] [Abstract] Cited for: VARIANTS LYS-10; LYS-23; VAL-270 AND VAL-337.
[9]	"Molecular biology of adenosine triphosphate-sensitive potassium channels." Aguilar-Bryan L., Bryan J. Endocr. Rev. 20:101-135(1999) [PubMed: 10204114] [Abstract] Cited for: VARIANT HHF2 ARG-91.
[10]	"Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis." Halushka M.K., Fan J.-B., Bentley K., Hsie L., Shen N., Weder A., Cooper R., Lipshutz R., Chakravarti A. Nat. Genet. 22:239-247(1999) [PubMed: 10391210] [Abstract] Cited for: VARIANTS LYS-23 AND VAL-337.
[11]	"Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism." Huopio H., Jaeaeskelaeinen J., Komulainen J., Miettinen R., Kaerkkaeinen P., Laakso M., Tapanainen P., Voutilainen R., Otonkoski T. J. Clin. Endocrinol. Metab. 87:4502-4507(2002) [PubMed: 12364426] [Abstract] Cited for: VARIANT HHF2 ASN-67.
[12]	"Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy." Sagen J.V., Raeder H., Hathout E., Shehadeh N., Gudmundsson K., Baevre H., Abuelo D., Phornphutkul C., Molnes J., Bell G.I., Gloyn A.L., Hattersley A.T., Molven A., Soevik O., Njoelstad P.R. Diabetes 53:2713-2718(2004) [PubMed: 15448106] [Abstract] Cited for: VARIANTS PNDM VAL-35; MET-59; HIS-201; CYS-330 AND ILE-333.
[13]	"Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients." Vaxillaire M., Populaire C., Busiah K., Cave H., Gloyn A.L., Hattersley A.T., Czernichow P., Froguel P., Polak M. Diabetes 53:2719-2722(2004) [PubMed: 15448107] [Abstract] Cited for: VARIANTS PNDM LEU-35; MET-59; CYS-201; HIS-201; LYS-322 AND CYS-330.
[14]	"Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel." Gloyn A.L., Cummings E.A., Edghill E.L., Harries L.W., Scott R., Costa T., Temple I.K., Hattersley A.T., Ellard S. J. Clin. Endocrinol. Metab. 89:3932-3935(2004) [PubMed: 15292329] [Abstract] Cited for: VARIANT PNDM CYS-201.
[15]	"Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity." Tornovsky S., Crane A., Cosgrove K.E., Hussain K., Lavie J., Heyman M., Nesher Y., Kuchinski N., Ben-Shushan E., Shatz O., Nahari E., Potikha T., Zangen D., Tenenbaum-Rakover Y., de Vries L., Argente J., Gracia R., Landau H. Glaser B. J. Clin. Endocrinol. Metab. 89:6224-6234(2004) [PubMed: 15579781] [Abstract] Cited for: VARIANT HHF2 LEU-254, CHARACTERIZATION OF VARIANT HHF2 LEU-254.
[16]	"Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes." Gloyn A.L., Pearson E.R., Antcliff J.F., Proks P., Bruining G.J., Slingerland A.S., Howard N., Srinivasan S., Silva J.M.C.L., Molnes J., Edghill E.L., Frayling T.M., Temple I.K., Mackay D., Shield J.P.H., Sumnik Z., van Rhijn A., Wales J.K.H. Hattersley A.T. N. Engl. J. Med. 350:1838-1849(2004) [PubMed: 15115830] [Abstract] Cited for: VARIANTS PNDM ARG-52; GLY-59; MET-59; HIS-201; CYS-201 AND LEU-296, CHARACTERIZATION OF VARIANT PNDM HIS-201.
[17]	Erratum Gloyn A.L., Pearson E.R., Antcliff J.F., Proks P., Bruining G.J., Slingerland A.S., Howard N., Srinivasan S., Silva J.M.C.L., Molnes J., Edghill E.L., Frayling T.M., Temple I.K., Mackay D., Shield J.P.H., Sumnik Z., van Rhijn A., Wales J.K.H. Hattersley A.T. N. Engl. J. Med. 351:1470-1470(2004)
[18]	"Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features." Proks P., Antcliff J.F., Lippiat J., Gloyn A.L., Hattersley A.T., Ashcroft F.M. Proc. Natl. Acad. Sci. U.S.A. 101:17539-17544(2004) [PubMed: 15583126] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS PNDM ARG-52; GLY-59 AND CYS-201.
[19]	"Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy." Ohkubo K., Nagashima M., Naito Y., Taguchi T., Suita S., Okamoto N., Fujinaga H., Tsumura K., Kikuchi K., Ono J. Clin. Endocrinol. (Oxf.) 62:458-465(2005) [PubMed: 15807877] [Abstract] Cited for: VARIANT HHF2 HIS-34, VARIANTS LYS-23; SER-148 AND VAL-337.
[20]	"Relapsing diabetes can result from moderately activating mutations in KCNJ11." Gloyn A.L., Reimann F., Girard C., Edghill E.L., Proks P., Pearson E.R., Temple I.K., Mackay D.J.G., Shield J.P.H., Freedenberg D., Noyes K., Ellard S., Ashcroft F.M., Gribble F.M., Hattersley A.T. Hum. Mol. Genet. 14:925-934(2005) [PubMed: 15718250] [Abstract] Cited for: VARIANTS TNDM3 SER-53; ARG-53 AND VAL-182, CHARACTERIZATION OF VARIANTS TNDM3 SER-53; ARG-53 AND VAL-182.
[21]	"KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes." The early onset diabetes study group of the Italian society of pediatric endocrinology and diabetes Massa O., Iafusco D., D'Amato E., Gloyn A.L., Hattersley A.T., Pasquino B., Tonini G., Dammacco F., Zanette G., Meschi F., Porzio O., Bottazzo G., Crino A., Lorini R., Cerutti F., Vanelli M., Barbetti F. Hum. Mutat. 25:22-27(2005) [PubMed: 15580558] [Abstract] Cited for: VARIANTS PNDM PRO-50; MET-59; ARG-170; ASN-170 AND CYS-201.
[22]	"Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes." Henwood M.J., Kelly A., MacMullen C., Bhatia P., Ganguly A., Thornton P.S., Stanley C.A. J. Clin. Endocrinol. Metab. 90:789-794(2005) [PubMed: 15562009] [Abstract] Cited for: VARIANTS HHF2 ASP-101; ALA-134; LEU-136; LEU-266 AND HIS-301.
[23]	"The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus." Yorifuji T., Nagashima K., Kurokawa K., Kawai M., Oishi M., Akazawa Y., Hosokawa M., Yamada Y., Inagaki N., Nakahata T. J. Clin. Endocrinol. Metab. 90:3174-3178(2005) [PubMed: 15784703] [Abstract] Cited for: VARIANT TNDM3 ARG-42, CHARACTERIZATION OF VARIANT TNDM3 ARG-42.
[24]	"Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function." Marthinet E., Bloc A., Oka Y., Tanizawa Y., Wehrle-Haller B., Bancila V., Dubuis J.-M., Philippe J., Schwitzgebel V.M. J. Clin. Endocrinol. Metab. 90:5401-5406(2005) [PubMed: 15998776] [Abstract] Cited for: VARIANT HHF2 ARG-259, CHARACTERIZATION OF VARIANT HHF2 ARG-259.
[25]	"Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects." Shimomura K., Girard C.A.J., Proks P., Nazim J., Lippiat J.D., Cerutti F., Lorini R., Ellard S., Hattersely A.T., Barbetti F., Ashcroft F.M. Diabetes 55:1705-1712(2006) [PubMed: 16731833] [Abstract] Cited for: VARIANTS PNDM GLN-50 AND PRO-50, CHARACTERIZATION OF VARIANTS PNDM GLN-50 AND PRO-50.
[26]	"Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype." Flanagan S.E., Edghill E.L., Gloyn A.L., Ellard S., Hattersley A.T. Diabetologia 49:1190-1197(2006) [PubMed: 16609879] [Abstract] Cited for: VARIANTS PNDM TYR-46; GLN-50; ARG-52; ASP-53; GLY-59; MET-59; PRO-164; TYR-166; THR-170; CYS-201; HIS-201; LEU-201; LEU-296 AND SER-330.
[27]	"Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI)." Fernandez-Marmiesse A., Salas A., Vega A., Fernandez-Lorenzo J.R., Barreiro J., Carracedo A. Hum. Mutat. 27:214-214(2006) [PubMed: 16429405] [Abstract] Cited for: VARIANTS LYS-23 AND VAL-337.
[28]	"A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels." Lin Y.-W., MacMullen C., Ganguly A., Stanley C.A., Shyng S.-L. J. Biol. Chem. 281:3006-3012(2006) [PubMed: 16332676] [Abstract] Cited for: VARIANT HHF2 LEU-55, CHARACTERIZATION OF VARIANT HHF2 LEU-55.
[29]	"Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism." Suchi M., MacMullen C.M., Thornton P.S., Adzick N.S., Ganguly A., Ruchelli E.D., Stanley C.A. Mod. Pathol. 19:122-129(2006) [PubMed: 16357843] [Abstract] Cited for: VARIANTS HHF2 ASP-40; ASP-101; PRO-116; LEU-136 AND HIS-301.
[30]	"Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers." Stanik J., Gasperikova D., Paskova M., Barak L., Javorkova J., Jancova E., Ciljakova M., Hlava P., Michalek J., Flanagan S.E., Pearson E., Hattersley A.T., Ellard S., Klimes I. J. Clin. Endocrinol. Metab. 92:1276-1282(2007) [PubMed: 17213273] [Abstract] Cited for: VARIANTS PNDM TYR-46; PRO-164 AND HIS-201.
+	Additional computationally mapped references.

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Web resources

GeneReviews

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Cross-references

Sequence databases
EMBL GenBank DDBJ	D50582 Genomic DNA. Translation: BAA09131.1. BC064497 mRNA. Translation: AAH64497.1. BC112358 mRNA. Translation: AAI12359.1.
IPI	IPI00291902.
PIR	A57616.
UniGene	Hs.248141
3D structure databases
SMR	Q14654. Positions 32-338, 165-352.
ModBase	Search...
Protein-protein interaction databases
STRING	Q14654.
PTM databases
PhosphoSite	Q14654.
Proteomic databases
PRIDE	Q14654.
Genome annotation databases
Ensembl	ENST00000339994; ENSP00000345708; ENSG00000187486; Homo sapiens. [Genome view]
Organism-specific databases
GeneCards	GC11M017363.
H-InvDB	HIX0035982.
HGNC	HGNC:6257. KCNJ11.
MIM	600937. gene. 601820. phenotype. 606176. phenotype. 610582. phenotype.
Orphanet	79134. DEND syndrome. 224. Diabetes mellitus, neonatal. 99885. Diabetes mellitus, neonatal, permanent. 99886. Diabetes mellitus, neonatal, transient. 165988. Diffuse hyperinsulinism, diazoxide-resistant. 165985. Diffuse hyperinsulinism, diazoxide-sensitive. 79298. Hyperinsulinism due to focal adenomatous hyperplasia. 657. Persistent hyperinsulinemic hypoglycemia of infancy.
PharmGKB	PA217.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG07403.
HOGENOM	HBG716702.
HOVERGEN	Q14654.
InParanoid	Q14654.
Enzyme and pathway databases
Pathway_Interaction_DB	hnf3bpathway. FOXA2 and FOXA3 transcription factor networks.
Reactome	REACT_1505. Integration of energy metabolism. REACT_15380. Diabetes pathways.
Gene expression databases
ArrayExpress	Q14654.
Bgee	Q14654.
CleanEx	HS_KCNJ11.
Genevestigator	Q14654.
GermOnline	ENSG00000187486. Homo sapiens.
Family and domain databases
InterPro	IPR014756. Ig_E-set. IPR016449. K_chnl_inward-rec_Kir. IPR001838. K_chnl_inward-rec_Kir-like. IPR003279. K_chnl_inward-rec_Kir6.2. IPR013521. K_chnl_inward-rec_Kir_Cr2. IPR013518. K_chnl_inward-rec_Kir_cyto. [Graphical view]
Gene3D	G3DSA:2.60.40.1400. IR_K+channel_cytopl. 1 hit.
PANTHER	PTHR11767. K+channel_IR. 1 hit.
Pfam	PF01007. IRK. 1 hit. [Graphical view]
PIRSF	PIRSF005465. GIRK_kir. 1 hit.
PRINTS	PR01332. KIR62CHANNEL. PR01320. KIRCHANNEL.
ProtoNet	Search...
Other Resources
DrugBank	DB01119. Diazoxide. DB01016. Glibenclamide. DB00222. Glimepiride. DB00308. Ibutilide. DB00922. Levosimendan. DB01252. Mitiglinide. DB00731. Nateglinide. DB00912. Repaglinide. DB00661. Verapamil.
SOURCE	Search...

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Entry information

Entry name

IRK11_HUMAN

Accession

Primary (citable) accession number: Q14654
Secondary accession number(s): Q2M1H7, Q58EX3

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	September 27, 2005
Last modified:	January 19, 2010
This is version 111 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.

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Relevant documents

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM

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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

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Sites

Natural variations

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents