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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.73
    Marker Score: 3588.5
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 871
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.15
    Marker Score: 7634
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.15
    Marker Score: 833.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 797.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71832
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48057
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 511
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 464
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.95
    Marker Score: 393
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5344
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 375
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.94
    Marker Score: 633
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.91
    Marker Score: 14232
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 327
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.82
    Marker Score: 261
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.78
    Marker Score: 3263
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1263
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 705
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.61
    Marker Score: 601
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.61
    Marker Score: 400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.59
    Marker Score: 378
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 148
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 477
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.46
    Marker Score: 867.5
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.45
    Marker Score: 187
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.43
    Marker Score: 185.5
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.42
    Marker Score: 242
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.38
    Marker Score: 898
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.38
    Marker Score: 766
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 373
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.33
    Marker Score: 332
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.31
    Marker Score: 159
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.29
    Marker Score: 116
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.27
    Marker Score: 164
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.23
    Marker Score: 165
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.22
    Marker Score: 69
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.22
    Marker Score: 104
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.22
    Marker Score: 300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73.5
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.2
    Marker Score: 51
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.18
    Marker Score: 93.5
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.18
    Marker Score: 56
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.17
    Marker Score: 54
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.17
    Marker Score: 257.5
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.16
    Marker Score: 36
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.15
    Marker Score: 90
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.14
    Marker Score: 582.5
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.14
    Marker Score: 35
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.13
    Marker Score: 281
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.13
    Marker Score: 45
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.13
    Marker Score: 1101
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.12
    Marker Score: 56
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.12
    Marker Score: 44
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.12
    Marker Score: 32
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.11
    Marker Score: 1079
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.11
    Marker Score: 125
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.11
    Marker Score: 1034
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.1
    Marker Score: 3914
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.1
    Marker Score: 41
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.1
    Marker Score: 143
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.1
    Marker Score: 3597
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.09
    Marker Score: 82
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.09
    Marker Score: 5818
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.09
    Marker Score: 52
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.09
    Marker Score: 19
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.09
    Marker Score: 41
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.09
    Marker Score: 42
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.09
    Marker Score: 30
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.09
    Marker Score: 66
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.09
    Marker Score: 54
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.09
    Marker Score: 29
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.09
    Marker Score: 95
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.08
    Marker Score: 18
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.08
    Marker Score: 49
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.08
    Marker Score: 867
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.08
    Marker Score: 104
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.08
    Marker Score: 127
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.08
    Marker Score: 101
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.08
    Marker Score: 34
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.08
    Marker Score: 31
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.08
    Marker Score: 19
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.07
    Marker Score: 37
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.07
    Marker Score: 78
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.07
    Marker Score: 450
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.07
    Marker Score: 285
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.07
    Marker Score: 286
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.07
    Marker Score: 16
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.07
    Marker Score: 25
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 0.07
    Marker Score: 16
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.07
    Marker Score: 19
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.06
    Marker Score: 32

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Other Information

**Key characteristics:** * KCNJ11 is a potassium channel that belongs to the Abc family of potassium channels. * It is expressed in a wide range of cell types, including epithelial cells, immune cells, and neurons. * It is a key regulator of potassium homeostasis, controlling the entry of potassium ions into cells. * Mutations in KCNJ11 have been linked to several human diseases, including diabetes, heart disease, and cancer. **Pathways and functions:** * KCNJ11 is involved in regulating the activity of voltage-gated potassium channels, which are responsible for maintaining the resting potential of cells. * It does this by blocking the opening of voltage-gated potassium channels when there is a positive potential difference across the cell membrane. * This helps to maintain the resting potential and prevents the cell from becoming too excitable. * In addition, KCNJ11 is involved in the regulation of intracellular potassium homeostasis by controlling the efflux of potassium ions from cells. * This helps to maintain the proper balance of potassium ions in the cell and prevents the development of abnormal cellular activity. **Clinical significance:** * Mutations in KCNJ11 have been linked to several human diseases, including diabetes, heart disease, and cancer. * In diabetes, mutations in KCNJ11 can lead to a decrease in potassium channel activity, resulting in high blood sugar levels and a risk of diabetic complications. * In heart disease, mutations in KCNJ11 can lead to a decrease in potassium channel activity, resulting in abnormal heart rhythms and an increased risk of arrhythmias. * In cancer, mutations in KCNJ11 can lead to the development of drug-resistant tumors that are resistant to potassium channel inhibitors. **Additional information:** * KCNJ11 is a highly conserved protein, with a similar sequence in mammals, birds, and fish. * It is a ubiquitin-dependent protein, which means that it is targeted for degradation by the proteasome when it is no longer needed. * It is a relatively new protein, with only a few human genes encoding KCNJ11.

Genular Protein ID: 2731039901

Symbol: KCJ11_HUMAN

Name: ATP-sensitive inward rectifier potassium channel 11

UniProtKB Accession Codes:

Q14654 B4DWI4 E9PNK0 Q2M1H7 Q58EX3 Q8IW96

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 3 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 12 DrugCentral 1 ELM 1 EMBL 6 EMDB 8 Ensembl 4 ExpressionAtlas 1 GO 46 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 9 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 8 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 8 PIR 1 PIRSF 1 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 6 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

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:

A0A804HHV7

Database IDs:

ARBA 15 AlphaFoldDB 1 Bgee 1 CTD 1 EMBL 2 Ensembl 3 GO 2 Gene3D 2 HGNC 1 InterPro 6 NCBI Taxonomy 1 OMA 1 PANTHER 2 PIRSF 1 PIRSR 1 PRINTS 2 PeptideAtlas 2 Pfam 4 Proteomes 2 RefSeq 3 RuleBase 1 SAM 1 SMR 1 SUPFAM 2

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. For the full schema, download it here.