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GCK Gene(Protein Coding)

Glucokinase

GCID:
GC07M044145
GIFtS:
57
Genes Participants
UDN Logo

Aliases for GCK Gene

Aliases for GCK Gene

  • Glucokinase 2 3 3 5
  • Glucokinase (Hexokinase 4) 2 3
  • Hexokinase Type IV 3 4
  • HK IV 3 4
  • HK4 3 4
  • Maturity Onset Diabetes Of The Young 2 2
  • ATP:D-Hexose 6-Phosphotransferase 3
  • Hexokinase D, Pancreatic Isozyme 3
  • Hexokinase-4 4
  • Hexokinase-D 4
  • Hexokinase 4 2
  • EC 2.7.1.2 4
  • FGQTL3 3
  • MODY2 3
  • HHF3 3
  • HKIV 3
  • HXKP 3
  • LGLK 3
  • GLK 3
  • GK 3

External Ids for GCK Gene

Previous HGNC Symbols for GCK Gene

  • MODY2

Previous GeneCards Identifiers for GCK Gene

  • GC07M043830
  • GC07M043890
  • GC07M043924
  • GC07M043957
  • GC07M044150
  • GC07M044183
  • GC07M044070

Summaries for GCK Gene

Entrez Gene Summary for GCK Gene

  • This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]

GeneCards Summary for GCK Gene

GCK (Glucokinase) is a Protein Coding gene. Diseases associated with GCK include Hyperinsulinemic Hypoglycemia, Familial, 3 and Maturity-Onset Diabetes Of The Young, Type 2. Among its related pathways are Central carbon metabolism in cancer and Galactose metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and phosphotransferase activity, alcohol group as acceptor. An important paralog of this gene is HK2.

UniProtKB/Swiss-Prot for GCK Gene

  • Catalyzes the initial step in utilization of glucose by the beta-cell and liver at physiological glucose concentration. Glucokinase has a high Km for glucose, and so it is effective only when glucose is abundant. The role of GCK is to provide G6P for the synthesis of glycogen. Pancreatic glucokinase plays an important role in modulating insulin secretion. Hepatic glucokinase helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage.

Gene Wiki entry for GCK Gene

Additional gene information for GCK Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCK Gene

Genomics for GCK Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for GCK Gene

Promoters and enhancers for GCK Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH07J044145 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 659.2 +51.1 51083 2.5 HDGF PKNOX1 SMAD1 ATF1 ARNT TCF12 GATA2 ATF7 NCOA1 REST GCK LOC105375258 POLD2 MYL7
GH07J044189 Promoter/Enhancer 1 EPDnew dbSUPER 656.3 +8.7 8711 0.1 MXI1 RFX1 POLR2A BMI1 GCK LOC105375257
GH07J044159 Promoter/Enhancer 1 EPDnew dbSUPER 650.3 +38.9 38868 0.1 SP1 RXRA MAX HNF4A RAD21 GCK RNA5SP230 POLD2 AEBP1 POLM ENSG00000239775 PGAM2 LOC105375257 LOC105375258
GH07J044196 Enhancer 0.7 ENCODE 650.7 +1.6 1613 0.2 CTCF IRF3 RAD21 RFX5 CC2D1A ARID2 SMC3 ZNF143 RCOR1 CREM GCK MYL7 RNA5SP230 POLD2 POLM AEBP1 LOC105375257
GH07J044628 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -437.0 -437034 13.6 HDGF PKNOX1 SMAD1 FEZF1 IRF4 YY1 POLR2B ZNF766 ZNF143 FOS DDX56 OGDH H2AFV SNORA5C PURB SNORA5B NACAD NUDCD3 TMED4 ENSG00000228434
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GCK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GCK gene promoter:

Genomic Locations for GCK Gene

Genomic Locations for GCK Gene
chr7:44,144,271-44,198,170
(GRCh38/hg38)
Size:
53,900 bases
Orientation:
Minus strand
chr7:44,183,870-44,237,769
(GRCh37/hg19)

Genomic View for GCK Gene

Genes around GCK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCK Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GCK Gene

Proteins for GCK Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for GCK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35557-HXK4_HUMAN
    Recommended name:
    Glucokinase
    Protein Accession:
    P35557
    Secondary Accessions:
    • A4D2J2
    • A4D2J3
    • Q05810

    Protein attributes for GCK Gene

    Size:
    465 amino acids
    Molecular mass:
    52191 Da
    Quaternary structure:
    • Monomer (PubMed:15016359, PubMed:19362831, PubMed:23957911). Interacts with MIDN; the interaction occurs preferentially at low glucose levels and results in inhibition of GCK activity (PubMed:24187134).
    Miscellaneous:
    • In vertebrates there are four major glucose-phosphorylating isoenzymes, designated hexokinase I, II, III and IV (glucokinase).

    Three dimensional structures from OCA and Proteopedia for GCK Gene

    Alternative splice isoforms for GCK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GCK Gene

Protein Expression for GCK Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GCK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCK Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GCK Gene

Domains & Families for GCK Gene

Gene Families for GCK Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GCK Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GCK Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35557

UniProtKB/Swiss-Prot:

HXK4_HUMAN :
  • Belongs to the hexokinase family.
Family:
  • Belongs to the hexokinase family.
genes like me logo Genes that share domains with GCK: view

Function for GCK Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for GCK Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the initial step in utilization of glucose by the beta-cell and liver at physiological glucose concentration. Glucokinase has a high Km for glucose, and so it is effective only when glucose is abundant. The role of GCK is to provide G6P for the synthesis of glycogen. Pancreatic glucokinase plays an important role in modulating insulin secretion. Hepatic glucokinase helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-glucose = ADP + D-glucose 6-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
The use of alternative promoters apparently enables the type IV hexokinase gene to be regulated by insulin in the liver and glucose in the beta cell. This may constitute an important feedback loop for maintaining glucose homeostasis. Subject to allosteric regulation. Low glucose and high fructose-6-phosphate triggers association with the inhibitor GKRP followed by sequestration in the nucleus.
GENATLAS Biochemistry:
glucokinase,expressed in liver and islet beta cells of pancreas,glucose specific,primary regulator of glucose-controlled insulin secretion,catalyzing the first step of glycolysis,energy pathway

Enzyme Numbers (IUBMB) for GCK Gene

Phenotypes From GWAS Catalog for GCK Gene

Gene Ontology (GO) - Molecular Function for GCK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004340 glucokinase activity TAS,IMP --
GO:0004396 hexokinase activity IEA --
GO:0005515 protein binding IPI 11522786
GO:0005524 ATP binding IDA 8446612
genes like me logo Genes that share ontologies with GCK: view
genes like me logo Genes that share phenotypes with GCK: view

Human Phenotype Ontology for GCK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GCK Gene

MGI Knock Outs for GCK:
  • Gck Gck<tm1Tka>
  • Gck Gck<tm1Efr>
  • Gck Gck<tm2Mgn>
  • Gck Gck<tm1.2Mgn>
  • Gck Gck<tm1Ts>

Animal Model Products

Clone Products

  • Addgene plasmids for GCK

No data available for Transcription Factor Targets and HOMER Transcription for GCK Gene

Localization for GCK Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCK Gene

Cytoplasm. Nucleus. Note=Under low glucose concentrations, GCK associates with GKRP and the inactive complex is recruited to the hepatocyte nucleus. {ECO:0000269 PubMed:10456334}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GCK gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
plasma membrane 2
extracellular 2
peroxisome 2
golgi apparatus 2
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GCK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with GCK: view

Pathways & Interactions for GCK Gene

genes like me logo Genes that share pathways with GCK: view

Gene Ontology (GO) - Biological Process for GCK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001678 cellular glucose homeostasis IBA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0006096 glycolytic process IBA --
GO:0006110 regulation of glycolytic process NAS,TAS --
genes like me logo Genes that share ontologies with GCK: view

No data available for SIGNOR curated interactions for GCK Gene

Drugs & Compounds for GCK Gene

Products:

  1. Drug

(63) Drugs for GCK Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved, Vet_approved Pharma Enzyme, substrate 0
glucose Approved, Vet_approved Pharma Enzyme, substrate, inducer 0
Glucosamine Approved, Investigational Nutra 211
Invert sugar Approved Pharma Enzyme, substrate 0
Sorbitol Approved Pharma 41

(48) Additional Compounds for GCK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Alpha-D-Glucose
  • alpha-D-GLC
  • alpha-Dextrose
  • a-D-GLC
  • α-D-GLC
  • a-D-Glucose
 492-62-6
Beta-D-Fructose 6-phosphate
  • 6-O-phosphono-beta-D-Fructofuranose
  • FRUCTOSE-6-phosphATE
  • 6-O-phosphono-b-D-Fructofuranose
  • 6-O-phosphono-β-D-fructofuranose
  • b-D-Fructose 6-phosphate
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • Deoxyadenosine diphosphate
 2793-06-8
IDP
  • 5'-IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
  • Inosine 5'-pyrophosphate
 86-04-4

(2) ApexBio Compounds for GCK Gene

Compound Action Cas Number
LY2608204 GK activator 1234703-40-2
Ro 28-1675 Glucokinase activator 300353-13-3
genes like me logo Genes that share compounds with GCK: view

Drug Products

Transcripts for GCK Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for GCK Gene

(48) Selected AceView cDNA sequences:
(7) Additional mRNA sequences :
(8) REFSEQ mRNAs :
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GCK Gene

Glucokinase (hexokinase 4):
Representative Sequences:

Clone Products

  • Addgene plasmids for GCK

Alternative Splicing Database (ASD) splice patterns (SP) for GCK Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c · 13d · 13e · 13f ^ 14
SP1: - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - -
SP5: -
SP6:
SP7:

Relevant External Links for GCK Gene

GeneLoc Exon Structure for
GCK
ECgene alternative splicing isoforms for
GCK

Expression for GCK Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GCK Gene

mRNA expression in normal human tissues for GCK Gene
mRNA expression by BioGPS for GCK GenemRNA expression by GTEx for GCK Gene

mRNA differential expression in normal tissues according to GTEx for GCK Gene

This gene is overexpressed in Pituitary (x15.5).

Protein differential expression in normal tissues from HIPED for GCK Gene

This gene is overexpressed in Liver (44.7) and Fetal heart (24.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GCK Gene



Protein tissue co-expression partners for GCK Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GCK Gene:

GCK

SOURCE GeneReport for Unigene cluster for GCK Gene:

Hs.1270

mRNA Expression by UniProt/SwissProt for GCK Gene:

P35557-HXK4_HUMAN
Tissue specificity: Isoform 1 is expressed in pancreas. Isoform 2 and isoform 3 is expressed in liver.

Evidence on tissue expression from TISSUES for GCK Gene

  • Pancreas(4.7)
  • Liver(4.6)
  • Lung(4.1)
  • Nervous system(2.6)
  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GCK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • pelvis
  • penis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GCK: view

Orthologs for GCK Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GCK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia GCK 34 33
  • 99.56 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia GCK 34
  • 95 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia GCK 34
  • 92 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia GCK 34 33
  • 91.25 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Gck 16 34 33
  • 89.03 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia GCK 34
  • 88 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Gck 33
  • 87.38 (n)
chicken
(Gallus gallus)
 Aves GCK 34 33
  • 85.28 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia GCK 34
  • 86 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia gck 33
  • 72.63 (n)
African clawed frog
(Xenopus laevis)
 Amphibia gck-A 33
zebrafish
(Danio rerio)
 Actinopterygii gck 34 33
  • 75.07 (n)
 OneToOne
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11643 33
fruit fly
(Drosophila melanogaster)
 Insecta Hex-C 34 35
  • 43 (a)
 ManyToMany
Hex-A 34 35
  • 38 (a)
 ManyToMany
Hex-t2 34 35
  • 38 (a)
 ManyToMany
Hex-t1 35
  • 31 (a)
worm
(Caenorhabditis elegans)
 Secernentea F14B4.2 34 35
  • 41 (a)
 OneToMany
H25P06.1 35
  • 40 (a)
Y77E11A.1 35
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HXK1 34
  • 31 (a)
 ManyToMany
HXK2 34
  • 28 (a)
 ManyToMany
GLK1 34
  • 27 (a)
 ManyToMany
EMI2 34
  • 27 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.11095 34
  • 46 (a)
 OneToMany
Species where no ortholog for GCK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GCK Gene

ENSEMBL:
Gene Tree for GCK (if available)
TreeFam:
Gene Tree for GCK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GCK: view image

Paralogs for GCK Gene

Paralogs for GCK Gene

(5) SIMAP similar genes for GCK Gene using alignment to 17 proteins:

  • HXK4_HUMAN
  • A7LFL1_HUMAN
  • C9JQD1_HUMAN
  • H7BXV0_HUMAN
  • L0HBA3_HUMAN
  • M4PPE1_HUMAN
  • M4PPE6_HUMAN
  • M4PPI4_HUMAN
  • M4PPI9_HUMAN
  • M4PS72_HUMAN
  • M4PS76_HUMAN
  • M4PS83_HUMAN
  • M4PT45_HUMAN
  • M4Q000_HUMAN
  • M4Q005_HUMAN
  • M4Q009_HUMAN
  • Q53Y25_HUMAN
genes like me logo Genes that share paralogs with GCK: view

Variants for GCK Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for GCK Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs104894005 pathogenic, uncertain-significance, Maturity-onset diabetes of the young, type 2, not specified, Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] 44,147,678(-) C/A/G/T coding_sequence_variant, missense_variant, stop_gained
rs104894006 pathogenic, Diabetes mellitus, noninsulin-dependent, late-onset, not provided 44,149,992(-) G/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs104894008 pathogenic, not provided, Maturity-onset diabetes of the young, type 2, Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176], Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] 44,147,732(-) C/G/T coding_sequence_variant, missense_variant
rs104894009 pathogenic, Maturity-onset diabetes of the young, type 2, Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] 44,146,587(-) C/G coding_sequence_variant, missense_variant
rs104894010 pathogenic, Maturity-onset diabetes of the young, type 2, Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851] 44,151,048(-) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for GCK Gene

Variant ID Type Subtype PubMed ID
nsv1120544 CNV tandem duplication 24896259
nsv428165 CNV gain 18775914
nsv509195 CNV insertion 20534489
nsv8082 CNV gain 18304495
nsv830983 CNV loss 17160897

Variation tolerance for GCK Gene

Residual Variation Intolerance Score: 7.53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.34; 7.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GCK Gene

Human Gene Mutation Database (HGMD)
GCK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GCK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCK Gene

Disorders for GCK Gene

MalaCards: The human disease database

(26) MalaCards diseases for GCK Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GCK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HXK4_HUMAN
  • Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269 PubMed:10588527, ECO:0000269 PubMed:10694920, ECO:0000269 PubMed:11106831, ECO:0000269 PubMed:11372010, ECO:0000269 PubMed:1303265, ECO:0000269 PubMed:1464666, ECO:0000269 PubMed:1502186, ECO:0000269 PubMed:16965331, ECO:0000269 PubMed:17573900, ECO:0000269 PubMed:18322640, ECO:0000269 PubMed:19884385, ECO:0000269 PubMed:22611063, ECO:0000269 PubMed:25015100, ECO:0000269 PubMed:8168652, ECO:0000269 PubMed:8325892, ECO:0000269 PubMed:8446612, ECO:0000269 PubMed:8495817, ECO:0000269 PubMed:9049484, ECO:0000269 PubMed:9662401}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial hyperinsulinemic hypoglycemia 3 (HHF3) [MIM:602485]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. {ECO:0000269 PubMed:11916951, ECO:0000269 PubMed:12941786, ECO:0000269 PubMed:15277402, ECO:0000269 PubMed:17082186, ECO:0000269 PubMed:19884385, ECO:0000269 PubMed:20375417, ECO:0000269 PubMed:28247534, ECO:0000269 PubMed:9435328}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. {ECO:0000269 PubMed:11372010, ECO:0000269 PubMed:25015100}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:1360036}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for GCK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for GCK Gene

Publications for GCK Gene

  1. Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus. (PMID: 11106831) Nam JH … Huh KB (Diabetes research and clinical practice 2000) 3 4 22 44 58
  2. Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. (PMID: 1502186) Stoffel M … Lesage S (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 44 58
  3. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. (PMID: 20164212) Flanagan SE … Ellard S (European journal of endocrinology 2010) 3 22 44 58
  4. Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. (PMID: 19884385) Barbetti F … Cuesta-Muñoz AL (Molecular endocrinology (Baltimore, Md.) 2009) 3 4 22 58
  5. Additive effects of genetic variation in GCK and G6PC2 on insulin secretion and fasting glucose. (PMID: 19741163) Li X … Watanabe RM (Diabetes 2009) 3 22 44 58

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