Details for: GCK

Gene ID: 2645

Symbol: GCK

Ensembl ID: ENSG00000106633

Description: glucokinase

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: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 15.8490
    Cell Significance Index: -4.0200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 9.4521
    Cell Significance Index: -3.8400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 4.3034
    Cell Significance Index: 263.8400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.8112
    Cell Significance Index: 60.9100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.9289
    Cell Significance Index: 61.7800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.9404
    Cell Significance Index: 22.7800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8266
    Cell Significance Index: 81.7700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6927
    Cell Significance Index: 625.4500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.6322
    Cell Significance Index: 13.4700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4531
    Cell Significance Index: 49.2800
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.4428
    Cell Significance Index: 5.1000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.4385
    Cell Significance Index: 6.2800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4376
    Cell Significance Index: 71.1700
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.4138
    Cell Significance Index: 5.3000
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.4025
    Cell Significance Index: 2.4900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3107
    Cell Significance Index: 18.6500
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.2488
    Cell Significance Index: 1.7000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2390
    Cell Significance Index: 16.5300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1438
    Cell Significance Index: 27.3600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.1417
    Cell Significance Index: 2.3400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.1231
    Cell Significance Index: 2.0600
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.1185
    Cell Significance Index: 1.0000
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1026
    Cell Significance Index: 1.6300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0994
    Cell Significance Index: 5.2200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0952
    Cell Significance Index: 2.0900
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.0739
    Cell Significance Index: 0.7800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0572
    Cell Significance Index: 20.5200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0536
    Cell Significance Index: 10.7500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0482
    Cell Significance Index: 1.2100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0368
    Cell Significance Index: 2.2600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0302
    Cell Significance Index: 4.1500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0266
    Cell Significance Index: 0.7000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0229
    Cell Significance Index: 2.9300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0047
    Cell Significance Index: 2.0700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0037
    Cell Significance Index: 2.7100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0031
    Cell Significance Index: 0.0900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0029
    Cell Significance Index: 0.0500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0017
    Cell Significance Index: 0.0600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0012
    Cell Significance Index: 0.8100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0002
    Cell Significance Index: 0.3200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0002
    Cell Significance Index: -0.0100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0010
    Cell Significance Index: -0.5500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0020
    Cell Significance Index: -3.7800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0020
    Cell Significance Index: -3.1300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0022
    Cell Significance Index: -1.3900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0022
    Cell Significance Index: -2.9900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0052
    Cell Significance Index: -3.9200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0056
    Cell Significance Index: -4.1300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0066
    Cell Significance Index: -3.6300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0067
    Cell Significance Index: -4.1800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0079
    Cell Significance Index: -1.1500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0081
    Cell Significance Index: -3.6600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0082
    Cell Significance Index: -2.3700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0088
    Cell Significance Index: -0.1200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0129
    Cell Significance Index: -2.7200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0140
    Cell Significance Index: -0.3600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0143
    Cell Significance Index: -2.8400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0146
    Cell Significance Index: -0.2200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0176
    Cell Significance Index: -3.0100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0179
    Cell Significance Index: -3.2300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0185
    Cell Significance Index: -2.1200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0281
    Cell Significance Index: -3.4600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0289
    Cell Significance Index: -0.6000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0289
    Cell Significance Index: -1.8200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0319
    Cell Significance Index: -4.1300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0329
    Cell Significance Index: -0.9200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0344
    Cell Significance Index: -4.0100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0348
    Cell Significance Index: -4.1000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0355
    Cell Significance Index: -0.4400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0360
    Cell Significance Index: -3.7500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0376
    Cell Significance Index: -3.8400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0405
    Cell Significance Index: -2.2700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0492
    Cell Significance Index: -3.3100
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.0500
    Cell Significance Index: -0.4300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0500
    Cell Significance Index: -3.8400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0523
    Cell Significance Index: -4.1400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0542
    Cell Significance Index: -1.4800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0549
    Cell Significance Index: -2.8500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0566
    Cell Significance Index: -4.2200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0570
    Cell Significance Index: -0.6200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0593
    Cell Significance Index: -2.0600
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0593
    Cell Significance Index: -0.7800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0631
    Cell Significance Index: -1.3200
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: -0.0648
    Cell Significance Index: -0.3100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0649
    Cell Significance Index: -2.8700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0649
    Cell Significance Index: -0.5000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0663
    Cell Significance Index: -1.5900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0688
    Cell Significance Index: -4.4400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0688
    Cell Significance Index: -1.3600
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0697
    Cell Significance Index: -0.9400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0712
    Cell Significance Index: -3.7100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0713
    Cell Significance Index: -1.5400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0729
    Cell Significance Index: -2.0900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0744
    Cell Significance Index: -2.3700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0751
    Cell Significance Index: -2.6300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0754
    Cell Significance Index: -2.4700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0768
    Cell Significance Index: -2.9100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0774
    Cell Significance Index: -3.6100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0794
    Cell Significance Index: -3.7300
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0803
    Cell Significance Index: -1.1700

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:** 1. **Expression:** GCK is primarily expressed in pancreatic beta cells, liver, kidney, and intestine. 2. **Function:** GCK catalyzes the conversion of glucose to glucose-6-phosphate, facilitating glycolysis and glucose homeostasis. 3. **Regulation:** GCK is regulated by various factors, including insulin, glucagon, and glucokinase regulatory protein. 4. **Subcellular localization:** GCK is primarily located in the cytosol of cells. **Pathways and Functions:** 1. **Glycolysis:** GCK plays a critical role in glycolysis, the metabolic pathway that converts glucose to pyruvate. 2. **Glucose homeostasis:** GCK helps regulate glucose homeostasis by facilitating glucose uptake and storage in tissues. 3. **Insulin secretion:** GCK is involved in the regulation of insulin secretion from pancreatic beta cells. 4. **Glucagon regulation:** GCK is also regulated by glucagon, a hormone that stimulates glucose release from stored glycogen. 5. **Oxidative stress:** GCK is involved in the regulation of oxidative stress through its interaction with the Foxo-mediated transcription pathway. **Clinical Significance:** 1. **MODY2:** Mutations in the GCK gene have been linked to MODY2, a rare form of diabetes characterized by impaired insulin secretion. 2. **Thyroid papillary carcinoma (TPC):** Alterations in GCK expression have been associated with susceptibility to TPC. 3. **Diabetes:** GCK plays a critical role in glucose homeostasis, and alterations in GCK expression have been linked to various forms of diabetes. 4. **Thyroid function:** GCK is also involved in the regulation of thyroid function, and alterations in GCK expression have been associated with thyroid disorders. 5. **Cancer:** GCK has been implicated in the development and progression of various cancers, including TPC and other epithelial cancers. In conclusion, the glucokinase gene (GCK) plays a critical role in glucose homeostasis and is involved in various metabolic disorders, including MODY2 and thyroid papillary carcinoma. Further research is needed to fully understand the mechanisms of GCK regulation and its implications in human disease.

Genular Protein ID: 1301107508

Symbol: HXK4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1354840

Title: Human glucokinase gene: isolation, structural characterization, and identification of a microsatellite repeat polymorphism.

PubMed ID: 1354840

DOI: 10.1210/mend.6.7.1354840

PubMed ID: 1871135

Title: Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs.

PubMed ID: 1871135

DOI: 10.1073/pnas.88.16.7294

PubMed ID: 1511800

Title: Human pancreatic beta-cell glucokinase: cDNA sequence and localization of the polymorphic gene to chromosome 7, band p13.

PubMed ID: 1511800

DOI: 10.1007/bf00429094

PubMed ID: 1612194

Title: Human islet glucokinase gene. Isolation and sequence analysis of full-length cDNA.

PubMed ID: 1612194

DOI: 10.2337/diab.41.7.807

PubMed ID: 1502186

Title: Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.

PubMed ID: 1502186

DOI: 10.1073/pnas.89.16.7698

PubMed ID: 1464666

Title: Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus.

PubMed ID: 1464666

DOI: 10.1210/jcem.75.6.1464666

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

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: 7742312

Title: Sugar specificity of human beta-cell glucokinase: correlation of molecular models with kinetic measurements.

PubMed ID: 7742312

DOI: 10.1021/bi00018a011

PubMed ID: 8878425

Title: Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.

PubMed ID: 8878425

DOI: 10.1172/jci118974

PubMed ID: 10456334

Title: Glucokinase regulatory protein is essential for the proper subcellular localisation of liver glucokinase.

PubMed ID: 10456334

DOI: 10.1016/s0014-5793(99)00971-0

PubMed ID: 19146401

Title: Activating mutations in the human glucokinase gene revealed by genetic selection.

PubMed ID: 19146401

DOI: 10.1021/bi802142q

PubMed ID: 24187134

Title: Identification of the ubiquitin-like domain of midnolin as a new glucokinase interaction partner.

PubMed ID: 24187134

DOI: 10.1074/jbc.m113.526632

PubMed ID: 8194664

Title: Molecular model of human beta-cell glucokinase built by analogy to the crystal structure of yeast hexokinase B.

PubMed ID: 8194664

DOI: 10.2337/diab.43.6.784

PubMed ID: 15016359

Title: Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase.

PubMed ID: 15016359

DOI: 10.1016/j.str.2004.02.005

PubMed ID: 19362831

Title: Discovery of novel 3,6-disubstituted 2-pyridinecarboxamide derivatives as GK activators.

PubMed ID: 19362831

DOI: 10.1016/j.bmcl.2009.03.137

PubMed ID: 22101819

Title: The active conformation of human glucokinase is not altered by allosteric activators.

PubMed ID: 22101819

DOI: 10.1107/s0907444911036729

PubMed ID: 23957911

Title: Structural basis for regulation of human glucokinase by glucokinase regulatory protein.

PubMed ID: 23957911

DOI: 10.1021/bi400838t

PubMed ID: 1360036

Title: Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus.

PubMed ID: 1360036

DOI: 10.1016/0140-6736(92)92494-z

PubMed ID: 1303265

Title: Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.

PubMed ID: 1303265

DOI: 10.1038/ng1092-153

PubMed ID: 8454109

Title: Glucokinase gene variants in the common form of NIDDM.

PubMed ID: 8454109

DOI: 10.2337/diab.42.4.579

PubMed ID: 8495817

Title: Identification of glucokinase mutations in subjects with gestational diabetes mellitus.

PubMed ID: 8495817

DOI: 10.2337/diab.42.6.937

PubMed ID: 8325892

Title: Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.

PubMed ID: 8325892

DOI: 10.1016/s0021-9258(18)82456-5

PubMed ID: 8433729

Title: Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus.

PubMed ID: 8433729

DOI: 10.1056/nejm199303113281005

PubMed ID: 8446612

Title: Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.

PubMed ID: 8446612

DOI: 10.1073/pnas.90.5.1932

PubMed ID: 8168652

Title: Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.

PubMed ID: 8168652

DOI: 10.2337/diab.43.5.730

PubMed ID: 9049484

Title: Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

PubMed ID: 9049484

DOI: 10.1007/s001250050666

PubMed ID: 10694920

Title: Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY).

PubMed ID: 10694920

DOI: 10.1002/(sici)1098-1004(1998)12:2<136::aid-humu11>3.0.co;2-0

PubMed ID: 9662401

Title: Mutations in the glucokinase gene of the fetus result in reduced birth weight.

PubMed ID: 9662401

DOI: 10.1038/953

PubMed ID: 9435328

Title: Familial hyperinsulinism caused by an activating glucokinase mutation.

PubMed ID: 9435328

DOI: 10.1056/nejm199801223380404

PubMed ID: 10588527

Title: Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.

PubMed ID: 10588527

DOI: 10.1046/j.1464-5491.1999.00188.x

PubMed ID: 11106831

Title: Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.

PubMed ID: 11106831

DOI: 10.1016/s0168-8227(00)00191-1

PubMed ID: 11372010

Title: Neonatal diabetes mellitus due to complete glucokinase deficiency.

PubMed ID: 11372010

DOI: 10.1056/nejm200105243442104

PubMed ID: 11916951

Title: The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.

PubMed ID: 11916951

DOI: 10.2337/diabetes.51.4.1240

PubMed ID: 12941786

Title: Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.

PubMed ID: 12941786

DOI: 10.2337/diabetes.52.9.2433

PubMed ID: 15277402

Title: Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

PubMed ID: 15277402

DOI: 10.2337/diabetes.53.8.2164

PubMed ID: 16965331

Title: Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.

PubMed ID: 16965331

DOI: 10.1111/j.1399-0004.2006.00686.x

PubMed ID: 17082186

Title: Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations.

PubMed ID: 17082186

DOI: 10.1074/jbc.m607987200

PubMed ID: 17573900

Title: Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

PubMed ID: 17573900

DOI: 10.1111/j.1365-2265.2007.02921.x

PubMed ID: 18322640

Title: Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

PubMed ID: 18322640

DOI: 10.1007/s10038-008-0271-5

PubMed ID: 19884385

Title: Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

PubMed ID: 19884385

DOI: 10.1210/me.2009-0094

PubMed ID: 20375417

Title: Large islets, beta-cell proliferation, and a glucokinase mutation.

PubMed ID: 20375417

DOI: 10.1056/nejmc0909845

PubMed ID: 21604084

Title: The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.

PubMed ID: 21604084

DOI: 10.1007/s00125-011-2194-5

PubMed ID: 22611063

Title: Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

PubMed ID: 22611063

DOI: 10.2337/dc11-2420

PubMed ID: 25015100

Title: Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

PubMed ID: 25015100

DOI: 10.1093/hmg/ddu360

PubMed ID: 28247534

Title: Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.

PubMed ID: 28247534

DOI: 10.1111/cen.13318

Sequence Information:

  • Length: 465
  • Mass: 52191
  • Checksum: 094D4A2F78096724
  • Sequence:
  • MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT 
    YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE 
    MLFDYISECI SDFLDKHQMK HKKLPLGFTF SFPVRHEDID KGILLNWTKG FKASGAEGNN 
    VVGLLRDAIK RRGDFEMDVV AMVNDTVATM ISCYYEDHQC EVGMIVGTGC NACYMEEMQN 
    VELVEGDEGR MCVNTEWGAF GDSGELDEFL LEYDRLVDES SANPGQQLYE KLIGGKYMGE 
    LVRLVLLRLV DENLLFHGEA SEQLRTRGAF ETRFVSQVES DTGDRKQIYN ILSTLGLRPS 
    TTDCDIVRRA CESVSTRAAH MCSAGLAGVI NRMRESRSED VMRITVGVDG SVYKLHPSFK 
    ERFHASVRRL TPSCEITFIE SEEGSGRGAA LVSAVACKKA CMLGQ

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.