Details for: GCK

Gene ID: 2645

Symbol: GCK

Ensembl ID: ENSG00000106633

Description: glucokinase

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: endocrine cell (CL0000163)
    Fold Change: 2.04
    Marker Score: 1053
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2
    Marker Score: 1996
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.82
    Marker Score: 3773.5
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 1.62
    Marker Score: 1117.5
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1171
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 871
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 856
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 486
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7692
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4817
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 797
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 1.02
    Marker Score: 442.5
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 1.02
    Marker Score: 996.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71830
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48055
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 461
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5349
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.94
    Marker Score: 1772
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 373
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2741
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.91
    Marker Score: 368
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.9
    Marker Score: 14064
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.89
    Marker Score: 411
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5288
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1262
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 709
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.64
    Marker Score: 1296
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.63
    Marker Score: 333
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.59
    Marker Score: 475
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.59
    Marker Score: 378
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.59
    Marker Score: 186
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 147.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 443
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.51
    Marker Score: 1208
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.46
    Marker Score: 278
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.46
    Marker Score: 219
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.39
    Marker Score: 802
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.39
    Marker Score: 126
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.34
    Marker Score: 379
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.33
    Marker Score: 1353
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.33
    Marker Score: 2138
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.33
    Marker Score: 85
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.32
    Marker Score: 83
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.3
    Marker Score: 133
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.27
    Marker Score: 737
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.27
    Marker Score: 176
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.27
    Marker Score: 205
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.26
    Marker Score: 89
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.26
    Marker Score: 87
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.25
    Marker Score: 57
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.21
    Marker Score: 70
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.2
    Marker Score: 315
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.2
    Marker Score: 191
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.2
    Marker Score: 64
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.2
    Marker Score: 82
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.19
    Marker Score: 61
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.19
    Marker Score: 114
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.19
    Marker Score: 84
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.18
    Marker Score: 193
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.18
    Marker Score: 2337
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.18
    Marker Score: 94
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.17
    Marker Score: 618
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.17
    Marker Score: 99
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.16
    Marker Score: 191
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.16
    Marker Score: 184
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.16
    Marker Score: 93
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.16
    Marker Score: 1604
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.15
    Marker Score: 270
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.15
    Marker Score: 72
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.15
    Marker Score: 78
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.15
    Marker Score: 9136
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.14
    Marker Score: 139
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.14
    Marker Score: 522
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.13
    Marker Score: 1259
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.13
    Marker Score: 85
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.13
    Marker Score: 62
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.13
    Marker Score: 2553
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.12
    Marker Score: 242
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.12
    Marker Score: 139
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.11
    Marker Score: 46
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.11
    Marker Score: 191
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.11
    Marker Score: 179
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.11
    Marker Score: 40
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.11
    Marker Score: 929
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.11
    Marker Score: 45
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.11
    Marker Score: 44
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.11
    Marker Score: 28
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.11
    Marker Score: 1081.5
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.11
    Marker Score: 1011
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.1
    Marker Score: 87.5

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Other Information

**Key characteristics:** * The GCK gene is located on chromosome 15q21.1. * It is a large gene with a molecular weight of approximately 3.3 million base pairs. * It contains 18 exons and 14 intronic regions. * It is expressed in a variety of cell types, including endocrine cells, enterocytes, kidney cells, and immune cells. **Pathways and functions:** * Glucokinase is involved in a variety of metabolic pathways, including the regulation of glucose metabolism, the regulation of beta-cell development, and the regulation of gene expression in beta cells. * It is also involved in the regulation of the immune system. * It is a key regulator of glucose metabolism, and its activity is tightly regulated by the hormone glucagon. * Glucokinase also plays a role in the regulation of beta-cell development. * It is involved in the development of thyroid papillary carcinoma (tpc), a cancer of the thyroid gland. **Clinical significance:** * Mutations in the GCK gene have been linked to a number of human diseases, including maturity-onset diabetes of the young 2 (mody2), thyroid papillary carcinoma (tpc), and diabetes. * Glucokinase is a potential therapeutic target for these diseases. * By inhibiting glucokinase, it is possible to lower blood sugar levels and reduce the risk of diabetic complications. **Additional information:** * Glucokinase is a highly conserved protein, with similar genes found in organisms ranging from yeast to humans. * It is a key enzyme in the metabolism of glucose, and its activity is regulated by a variety of factors, including blood sugar levels, insulin, and glucagon. * Glucokinase is a multi-functional enzyme that can also act as a phosphatase, a kinase, and a GTPase.

Genular Protein ID: 1301107508

Symbol: HXK4_HUMAN

Name: N/A

UniProtKB Accession Codes:

P35557 A4D2J2 A4D2J3 Q05810

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 25 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 8 EC 4 EMBL 38 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 28 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 10 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 47 PDBsum 35 PIR 3 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 6 RefSeq 3 Rhea 8 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 2 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.