Details for: KCNJ11

Gene ID: 3767

Symbol: KCNJ11

Ensembl ID: ENSG00000187486

Description: potassium inwardly rectifying channel subfamily J member 11

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6262
    Cell Significance Index: 61.9500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.5355
    Cell Significance Index: 11.4100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.4483
    Cell Significance Index: 6.4200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3736
    Cell Significance Index: 337.3600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.3463
    Cell Significance Index: 216.2700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3052
    Cell Significance Index: 49.6400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2875
    Cell Significance Index: 31.2700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2466
    Cell Significance Index: 170.5900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2240
    Cell Significance Index: 4.9100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2026
    Cell Significance Index: 12.1600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1875
    Cell Significance Index: 35.6900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.1499
    Cell Significance Index: 3.2100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.1406
    Cell Significance Index: 3.4300
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.1345
    Cell Significance Index: 2.1700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1310
    Cell Significance Index: 9.0600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0996
    Cell Significance Index: 2.8700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0766
    Cell Significance Index: 1.6600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0749
    Cell Significance Index: 15.0300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0668
    Cell Significance Index: 3.0300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0608
    Cell Significance Index: 17.5100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0409
    Cell Significance Index: 4.6700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0347
    Cell Significance Index: 1.2200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0315
    Cell Significance Index: 1.0100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.0160
    Cell Significance Index: 0.9800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0149
    Cell Significance Index: 5.3400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0119
    Cell Significance Index: 2.0300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0075
    Cell Significance Index: 0.1600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0066
    Cell Significance Index: 0.1700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0053
    Cell Significance Index: 0.0900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0020
    Cell Significance Index: 0.0500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0016
    Cell Significance Index: 1.1600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0014
    Cell Significance Index: -0.7700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0017
    Cell Significance Index: -3.1400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0021
    Cell Significance Index: -3.9300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0026
    Cell Significance Index: -3.9300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0029
    Cell Significance Index: -3.9300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0032
    Cell Significance Index: -2.4100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0042
    Cell Significance Index: -3.0900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0044
    Cell Significance Index: -2.4300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0056
    Cell Significance Index: -1.1900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0057
    Cell Significance Index: -3.6000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0065
    Cell Significance Index: -0.4400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0083
    Cell Significance Index: -3.7700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0086
    Cell Significance Index: -0.4000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0097
    Cell Significance Index: -0.9900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0113
    Cell Significance Index: -2.2400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0117
    Cell Significance Index: -1.3400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0143
    Cell Significance Index: -2.5700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0149
    Cell Significance Index: -0.7800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0178
    Cell Significance Index: -2.4500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0223
    Cell Significance Index: -1.7200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0229
    Cell Significance Index: -3.3300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0233
    Cell Significance Index: -0.3700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0239
    Cell Significance Index: -1.7800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0250
    Cell Significance Index: -2.9100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0252
    Cell Significance Index: -0.3800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0276
    Cell Significance Index: -3.3900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0276
    Cell Significance Index: -3.5600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0327
    Cell Significance Index: -3.4100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0337
    Cell Significance Index: -3.9800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0344
    Cell Significance Index: -1.5200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0378
    Cell Significance Index: -1.0800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0394
    Cell Significance Index: -2.4200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0400
    Cell Significance Index: -2.0800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0415
    Cell Significance Index: -0.8800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0420
    Cell Significance Index: -2.6500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0430
    Cell Significance Index: -1.1700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0446
    Cell Significance Index: -1.6900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0463
    Cell Significance Index: -1.4800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0482
    Cell Significance Index: -2.1000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0485
    Cell Significance Index: -3.8400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0502
    Cell Significance Index: -1.7600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0538
    Cell Significance Index: -1.7600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0553
    Cell Significance Index: -1.1100
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0563
    Cell Significance Index: -0.7600
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0566
    Cell Significance Index: -0.7300
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.0578
    Cell Significance Index: -0.7300
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0601
    Cell Significance Index: -0.5700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0606
    Cell Significance Index: -3.4000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0645
    Cell Significance Index: -1.6100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0652
    Cell Significance Index: -3.0700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0710
    Cell Significance Index: -1.9800
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0721
    Cell Significance Index: -0.8500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0731
    Cell Significance Index: -3.7000
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0734
    Cell Significance Index: -0.8000
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0744
    Cell Significance Index: -0.9400
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0756
    Cell Significance Index: -0.9900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0769
    Cell Significance Index: -1.5200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0828
    Cell Significance Index: -1.7900
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0849
    Cell Significance Index: -1.2700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0894
    Cell Significance Index: -3.2800
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0921
    Cell Significance Index: -2.3000
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0947
    Cell Significance Index: -0.9800
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0958
    Cell Significance Index: -2.0000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0985
    Cell Significance Index: -2.9000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0988
    Cell Significance Index: -2.3700
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.1014
    Cell Significance Index: -1.3100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1073
    Cell Significance Index: -3.7300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1099
    Cell Significance Index: -2.3000
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1123
    Cell Significance Index: -1.3100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The KCNJ11 gene is a member of the potassium inwardly rectifying channel subfamily J, which is characterized by its ability to conduct potassium ions in the inward direction. The channel is activated by ATP and inhibited by ATP depletion, allowing it to regulate the flow of potassium ions across cell membranes. The KCNJ11 gene is highly expressed in various tissues, including the kidney, pancreas, and nervous system, where it plays a critical role in maintaining proper ion balance and cellular function. **Pathways and Functions** The KCNJ11 gene is involved in various cellular processes, including: 1. **Regulation of Insulin Secretion**: The KCNJ11 gene is expressed in pancreatic beta cells, where it plays a crucial role in regulating insulin secretion in response to glucose levels. 2. **Muscle Contraction**: The KCNJ11 gene is expressed in skeletal muscle, where it helps regulate muscle contraction by controlling the flow of potassium ions across the muscle membrane. 3. **Neuronal Function**: The KCNJ11 gene is expressed in neuronal cells, where it helps regulate neuronal excitability and synaptic transmission. 4. **Ion Homeostasis**: The KCNJ11 gene helps maintain proper ion balance across cell membranes by regulating the flow of potassium ions. 5. **Cellular Response to Stimuli**: The KCNJ11 gene is involved in the cellular response to various stimuli, including glucose, nicotine, and tumor necrosis factor. **Clinical Significance** Alterations in the KCNJ11 gene have been implicated in various diseases, including: 1. **Congenital Hyperkalemia**: Mutations in the KCNJ11 gene can lead to congenital hyperkalemia, a condition characterized by elevated potassium levels in the blood. 2. **Disorders of Transmembrane Transport**: Mutations in the KCNJ11 gene can also lead to disorders of transmembrane transport, including cmd10, atfb12, and cantu syndrome. 3. **Cardiac Conduction Disorders**: The KCNJ11 gene is also involved in cardiac conduction, and mutations in the gene can lead to cardiac conduction disorders. 4. **Neurological Disorders**: The KCNJ11 gene is expressed in the nervous system, and mutations in the gene have been implicated in various neurological disorders, including epilepsy and autism. In conclusion, the KCNJ11 gene plays a critical role in maintaining proper ion balance and cellular function in the human body. Alterations in the gene have been implicated in various diseases, highlighting the importance of this gene in human health and disease. Further research is needed to fully understand the mechanisms by which the KCNJ11 gene regulates cellular function and to develop effective treatments for related diseases.

Genular Protein ID: 2731039901

Symbol: KCJ11_HUMAN

Name: ATP-sensitive inward rectifier potassium channel 11

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7502040

Title: Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor.

PubMed ID: 7502040

DOI: 10.1126/science.270.5239.1166

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9831708

Title: Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells.

PubMed ID: 9831708

DOI: 10.1161/01.res.83.11.1132

PubMed ID: 12524280

Title: Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.

PubMed ID: 12524280

DOI: 10.1016/s0006-3495(03)74847-4

PubMed ID: 17652641

Title: A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

PubMed ID: 17652641

DOI: 10.1212/01.wnl.0000268488.51776.53

PubMed ID: 18596924

Title: Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

PubMed ID: 18596924

DOI: 10.1172/jci35414

PubMed ID: 19357197

Title: Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism.

PubMed ID: 19357197

DOI: 10.1093/hmg/ddp179

PubMed ID: 20022885

Title: Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

PubMed ID: 20022885

DOI: 10.1093/hmg/ddp554

PubMed ID: 10338089

Title: Congenital hyperinsulinism: molecular basis of a heterogeneous disease.

PubMed ID: 10338089

DOI: 10.1002/(sici)1098-1004(1999)13:5<351::aid-humu3>3.0.co;2-r

PubMed ID: 17855752

Title: A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.

PubMed ID: 17855752

DOI: 10.1113/jphysiol.2007.143149

PubMed ID: 18280666

Title: Functional modulation of the ATP-sensitive potassium channel by extracellular signal-regulated kinase-mediated phosphorylation.

PubMed ID: 18280666

DOI: 10.1016/j.neuroscience.2008.01.003

PubMed ID: 22701567

Title: Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.

PubMed ID: 22701567

DOI: 10.1371/journal.pone.0037423

PubMed ID: 28842488

Title: Conserved functional consequences of disease-associated mutations in the slide-helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.

PubMed ID: 28842488

DOI: 10.1074/jbc.m117.804971

PubMed ID: 7847376

Title: Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.

PubMed ID: 7847376

PubMed ID: 8923010

Title: Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.

PubMed ID: 8923010

DOI: 10.1093/hmg/5.11.1809

PubMed ID: 8897013

Title: 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.

PubMed ID: 8897013

DOI: 10.1007/bf02658512

PubMed ID: 9032109

Title: 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.

PubMed ID: 9032109

DOI: 10.2337/diab.46.3.502

PubMed ID: 10204114

Title: Molecular biology of adenosine triphosphate-sensitive potassium channels.

PubMed ID: 10204114

DOI: 10.1210/edrv.20.2.0361

PubMed ID: 10391210

Title: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.

PubMed ID: 10391210

DOI: 10.1038/10297

PubMed ID: 12364426

Title: Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.

PubMed ID: 12364426

DOI: 10.1210/jc.2002-020378

PubMed ID: 15448106

Title: Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

PubMed ID: 15448106

DOI: 10.2337/diabetes.53.10.2713

PubMed ID: 15448107

Title: Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.

PubMed ID: 15448107

DOI: 10.2337/diabetes.53.10.2719

PubMed ID: 15292329

Title: 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.

PubMed ID: 15292329

DOI: 10.1210/jc.2004-0568

PubMed ID: 15579781

Title: Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

PubMed ID: 15579781

DOI: 10.1210/jc.2004-1233

PubMed ID: 15115830

Title: Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

PubMed ID: 15115830

DOI: 10.1056/nejmoa032922

PubMed ID: 15583126

Title: Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.

PubMed ID: 15583126

DOI: 10.1073/pnas.0404756101

PubMed ID: 15807877

Title: Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.

PubMed ID: 15807877

DOI: 10.1111/j.1365-2265.2005.02242.x

PubMed ID: 15718250

Title: Relapsing diabetes can result from moderately activating mutations in KCNJ11.

PubMed ID: 15718250

DOI: 10.1093/hmg/ddi086

PubMed ID: 15580558

Title: KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

PubMed ID: 15580558

DOI: 10.1002/humu.20124

PubMed ID: 15562009

Title: Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

PubMed ID: 15562009

DOI: 10.1210/jc.2004-1604

PubMed ID: 15784703

Title: 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.

PubMed ID: 15784703

DOI: 10.1210/jc.2005-0096

PubMed ID: 15998776

Title: Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.

PubMed ID: 15998776

DOI: 10.1210/jc.2005-0202

PubMed ID: 16731833

Title: Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

PubMed ID: 16731833

DOI: 10.2337/db05-1640

PubMed ID: 16609879

Title: 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.

PubMed ID: 16609879

DOI: 10.1007/s00125-006-0246-z

PubMed ID: 16429405

Title: Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

PubMed ID: 16429405

DOI: 10.1002/humu.9401

PubMed ID: 16332676

Title: A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels.

PubMed ID: 16332676

DOI: 10.1074/jbc.m511875200

PubMed ID: 16357843

Title: Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.

PubMed ID: 16357843

DOI: 10.1038/modpathol.3800497

PubMed ID: 17213273

Title: Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

PubMed ID: 17213273

DOI: 10.1210/jc.2006-2490

Sequence Information:

  • Length: 390
  • Mass: 43526
  • Checksum: 00F4E7D94432F282
  • Sequence:
  • MLSRKGIIPE EYVLTRLAED PAKPRYRARQ RRARFVSKKG NCNVAHKNIR EQGRFLQDVF 
    TTLVDLKWPH TLLIFTMSFL CSWLLFAMAW WLIAFAHGDL APSEGTAEPC VTSIHSFSSA 
    FLFSIEVQVT IGFGGRMVTE ECPLAILILI VQNIVGLMIN AIMLGCIFMK TAQAHRRAET 
    LIFSKHAVIA LRHGRLCFML RVGDLRKSMI ISATIHMQVV RKTTSPEGEV VPLHQVDIPM 
    ENGVGGNSIF LVAPLIIYHV IDANSPLYDL APSDLHHHQD LEIIVILEGV VETTGITTQA 
    RTSYLADEIL WGQRFVPIVA EEDGRYSVDY SKFGNTVKVP TPLCTARQLD EDHSLLEALT 
    LASARGPLRK RSVPMAKAKP KFSISPDSLS

Genular Protein ID: 4122914515

Symbol: A0A804HHV7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

Sequence Information:

  • Length: 303
  • Mass: 33249
  • Checksum: 24A69A32290BDD26
  • Sequence:
  • MAWWLIAFAH GDLAPSEGTA EPCVTSIHSF SSAFLFSIEV QVTIGFGGRM VTEECPLAIL 
    ILIVQNIVGL MINAIMLGCI FMKTAQAHRR AETLIFSKHA VIALRHGRLC FMLRVGDLRK 
    SMIISATIHM QVVRKTTSPE GEVVPLHQVD IPMENGVGGN SIFLVAPLII YHVIDANSPL 
    YDLAPSDLHH HQDLEIIVIL EGVVETTGIT TQARTSYLAD EILWGQRFVP IVAEEDGRYS 
    VDYSKFGNTV KVPTPLCTAR QLDEDHSLLE ALTLASARGP LRKRSVPMAK AKPKFSISPD 
    SLS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.