GCK Gene (Protein Coding)

Glucokinase

GC07M044145
GIFtS:
52
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... See more...

Aliases for GCK Gene

Aliases for GCK Gene

  • Glucokinase 2 3 4 5
  • HK4 2 3 4
  • Glucokinase (Hexokinase 4) 2 3
  • Hexokinase Type IV 3 4
  • Hexokinase-4 3 4
  • HK IV 3 4
  • Maturity Onset Diabetes Of The Young 2 2
  • ATP:D-Hexose 6-Phosphotransferase 3
  • Hexokinase D, Pancreatic Isozyme 3
  • Hexokinase 4 2
  • Hexokinase-D 4
  • EC 2.7.1.1 4
  • EC 2.7.1 51
  • FGQTL3 3
  • MODY2 3
  • PNDM1 3
  • HHF3 3
  • HKIV 3
  • HXKP 3
  • LGLK 3
  • GLK 3
  • GCK 5
  • 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 Type II diabetes mellitus 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 Summary for GCK Gene

  • Catalyzes the phosphorylation of hexose, such as D-glucose, D-fructose and D-mannose, to hexose 6-phosphate (D-glucose 6-phosphate, D-fructose 6-phosphate and D-mannose 6-phosphate, respectively) (PubMed:7742312, PubMed:11916951, PubMed:15277402, PubMed:17082186, PubMed:18322640, PubMed:19146401, PubMed:25015100, PubMed:8325892). Compared to other hexokinases, has a weak affinity for D-glucose, and is effective only when glucose is abundant (By similarity). Mainly expressed in pancreatic beta cells and the liver and constitutes a rate-limiting step in glucose metabolism in these tissues (PubMed:18322640, PubMed:25015100, PubMed:8325892, PubMed:11916951, PubMed:15277402). Since insulin secretion parallels glucose metabolism and the low glucose affinity of GCK ensures that it can change its enzymatic activity within the physiological range of glucose concentrations, GCK acts as a glucose sensor in the pancreatic beta cell (By similarity). In pancreas, plays an important role in modulating insulin secretion (By similarity). In liver, helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage (By similarity). Required to provide D-glucose 6-phosphate for the synthesis of glycogen (PubMed:8878425). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (PubMed:7742312).

Gene Wiki entry for GCK Gene

Additional gene information for GCK Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GCK Gene

Genomics for GCK Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH07J044146 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 259.2 +51.3 51268 2.8 MNT IKZF1 BHLHE40 ZNF395 REST VEZF1 NBN ZEB2 TAL1 RELA GCK HSALNG0057633 LOC105375258 MYL7 POLD2
GH07J044157 Promoter/Enhancer 1.2 EPDnew Ensembl dbSUPER 250.3 +39.3 39269 3.8 TBP IKZF1 CTCF RXRA ZBTB33 FOXA2 THRB TAL1 JUND HNF4A GCK POLD2 RNA5SP230 AEBP1 POLM ENSG00000239775 PGAM2 LOC105375257 LOC105375258 MYL7
GH07J044189 Promoter/Enhancer 0.9 EPDnew Ensembl dbSUPER 256.3 +8.9 8869 0.6 GABPB1 RFX1 POLR2A BMI1 GCK YKT6 lnc-YKT6-3 lnc-GCK-1 HSALNG0057635 MYL7
GH07J044196 Enhancer 0.9 Ensembl ENCODE 255.8 +1.9 1869 1.4 CTCF REST TRIM22 SMC3 RAD21 SPI1 IKZF1 RFX5 ZNF143 RCOR1 GCK lnc-GCK-1 MYL7 POLD2 RNA5SP230 POLM AEBP1 YKT6 lnc-YKT6-3
GH07J044121 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 7.7 +74.9 74908 3.9 TBP ZBTB10 SP1 MXD4 MNT IKZF1 SMAD5 MBD2 POLR2A BHLHE40 POLD2 lnc-MYL7-1 DDX56 POLM TMED4 SNORA5B SNHG15 ENSG00000228434 SNORA5C SPDYE1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GCK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GCK

Top Transcription factor binding sites by QIAGEN in the GCK gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for GCK Gene

Latest Assembly
chr7:44,143,213-44,198,170
(GRCh38/hg38)
Size:
54,958 bases
Orientation:
Minus strand

Previous Assembly
chr7:44,182,812-44,229,038
(GRCh37/hg19 by Entrez Gene)
Size:
46,227 bases
Orientation:
Minus strand

chr7:44,183,872-44,237,769
(GRCh37/hg19 by Ensembl)
Size:
53,898 bases
Orientation:
Minus strand

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

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

    Protein Symbol:
    P35557-HXK4_HUMAN
    Recommended name:
    Hexokinase-4
    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 hexokinase activity (PubMed:24187134). Interacts with GCKR; leading to sequestration in the nucleus (PubMed:10456334).
    SequenceCaution:
    • Sequence=AAA67541.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAA67542.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    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

Selected DME Specific Peptides for GCK Gene

P35557:
  • EWGAFGD
  • GFTFSFP
  • GVDGSVYK
  • LLRDAIKRR
  • NACYMEE
  • LDLGGTNFRV
  • EGRMCVN
  • LPLGFTFS

Post-translational modifications for GCK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCK Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
Blocks:
  • Hexokinase
ProtoNet:

Suggested Antigen Peptide Sequences for GCK Gene

GenScript: Design optimal peptide antigens:
  • Glucokinase (A7LFL1_HUMAN)
  • Hexokinase-D (HXK4_HUMAN)
  • Glucokinase (Hexokinase 4, maturity onset diabetes of the young 2), isoform CRA_b (Q53Y25_HUMAN)

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

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Molecular function for GCK Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorylation of hexose, such as D-glucose, D-fructose and D-mannose, to hexose 6-phosphate (D-glucose 6-phosphate, D-fructose 6-phosphate and D-mannose 6-phosphate, respectively) (PubMed:7742312, PubMed:11916951, PubMed:15277402, PubMed:17082186, PubMed:18322640, PubMed:19146401, PubMed:25015100, PubMed:8325892). Compared to other hexokinases, has a weak affinity for D-glucose, and is effective only when glucose is abundant (By similarity). Mainly expressed in pancreatic beta cells and the liver and constitutes a rate-limiting step in glucose metabolism in these tissues (PubMed:18322640, PubMed:25015100, PubMed:8325892, PubMed:11916951, PubMed:15277402). Since insulin secretion parallels glucose metabolism and the low glucose affinity of GCK ensures that it can change its enzymatic activity within the physiological range of glucose concentrations, GCK acts as a glucose sensor in the pancreatic beta cell (By similarity). In pancreas, plays an important role in modulating insulin secretion (By similarity). In liver, helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage (By similarity). Required to provide D-glucose 6-phosphate for the synthesis of glycogen (PubMed:8878425). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (PubMed:7742312).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + D-hexose = ADP + D-hexose 6-phosphate + H(+); Xref=Rhea:RHEA:22740, ChEBI:CHEBI:4194, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:61567, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence={ECO:0000269|PubMed:11916951, ECO:0000269|PubMed:15277402, ECO:0000269|PubMed:17082186, ECO:0000269|PubMed:18322640, ECO:0000269|PubMed:19146401, ECO:0000269|PubMed:25015100, ECO:0000269|PubMed:8325892};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + D-fructose = ADP + D-fructose 6-phosphate + H(+); Xref=Rhea:RHEA:16125, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:37721, ChEBI:CHEBI:61527, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence={ECO:0000269|PubMed:7742312};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + D-glucose = ADP + D-glucose 6-phosphate + H(+); Xref=Rhea:RHEA:17825, ChEBI:CHEBI:4167, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:61548, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence={ECO:0000269|PubMed:7742312};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + D-mannose = ADP + D-mannose 6-phosphate + H(+); Xref=Rhea:RHEA:11028, ChEBI:CHEBI:4208, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:58735, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence={ECO:0000269|PubMed:7742312};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Subject to allosteric regulation (PubMed:15016359). Low glucose and high fructose-6-phosphate triggers association with the inhibitor GCKR followed by sequestration in the nucleus (PubMed:10456334).
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:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004340 glucokinase activity IEA,IMP 18322640
GO:0004396 hexokinase activity IEA --
GO:0005515 protein binding IPI 11522786
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<tm1.2Mgn>
  • Gck Gck<tm1Efr>
  • Gck Gck<tm1Tka>
  • Gck Gck<tm1Ts>
  • Gck Gck<tm2Mgn>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GCK

Clone products for research

  • 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. Mitochondrion. Note=Under low glucose concentrations, GCK associates with GCKR 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
extracellular 3
golgi apparatus 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
endosome 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:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IBA 21873635
GO:0005829 cytosol IDA,TAS --
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

Pathways by source for GCK Gene

1 Sino Biological pathway for GCK Gene
3 GeneGo (Thomson Reuters) pathways for GCK Gene
  • Galactose metabolism
  • Glycogen metabolism
  • Glycolysis and gluconeogenesis (short map)
1 Qiagen pathway for GCK Gene
  • MODY (Maturity-Onset Diabetes of Young)

UniProtKB/Swiss-Prot P35557-HXK4_HUMAN

  • Pathway: Carbohydrate metabolism; hexose metabolism.
  • Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 1/4.

SIGNOR curated interactions for GCK Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GCK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001678 cellular glucose homeostasis IEA,IBA 21873635
GO:0005975 carbohydrate metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0006096 glycolytic process IEA,IBA 21873635
GO:0006110 regulation of glycolytic process NAS,TAS --
genes like me logo Genes that share ontologies with GCK: view

Drugs & Compounds for GCK Gene

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(64) 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, Experimental, Investigational, Vet_approved Pharma Enzyme, substrate, Target 0
Glucosamine Approved, Investigational Pharma 98
Dextrose, unspecified form Approved, Vet_approved Pharma Enzyme, substrate, inducer 0
Sorbitol Approved Pharma 71
Glucose 6-phosphate Experimental Pharma 0

(46) 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
 58-64-0
alpha-D-Glucose
  • alpha-D-GLC
  • alpha-Dextrose
  • a-D-GLC
  • Α-D-GLC
  • a-Dextrose
 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
  • FRUCTOSE-6-phosphoric acid
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

(1) ApexBio Compounds for GCK Gene

Compound Action Cas Number
LY2608204 GK activator 1234703-40-2
genes like me logo Genes that share compounds with GCK: view

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Transcripts for GCK Gene

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mRNA/cDNA for GCK Gene

7 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GCK

Clone products for research

  • 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

Expression for GCK Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GCK

SOURCE GeneReport for Unigene cluster for GCK Gene:

Hs.1270

Evidence on tissue expression from TISSUES for GCK Gene

  • Pancreas(4.7)
  • Liver(4.6)
  • Lung(4.3)
  • Nervous system(2.9)
  • Intestine(2.7)
  • Muscle(2.4)
  • Kidney(2.4)
  • Blood(2.3)
  • Stomach(2.2)
  • Skin(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

No data available for mRNA Expression by UniProt/SwissProt for GCK Gene

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 30 31
  • 99.56 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GCK 31
  • 95 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia GCK 31
  • 92 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GCK 30 31
  • 91.25 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gck 30 17 31
  • 89.03 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia GCK 31
  • 88 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Gck 30
  • 87.38 (n)
Chicken
(Gallus gallus)
 Aves GCK 30 31
  • 85.28 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GCK 31
  • 86 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia gck 30
  • 72.63 (n)
African clawed frog
(Xenopus laevis)
 Amphibia gck-A 30
Zebrafish
(Danio rerio)
 Actinopterygii gck 30 31
  • 75.07 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.11643 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Hex-C 31 32
  • 43 (a)
 ManyToMany
Hex-A 31 32
  • 38 (a)
 ManyToMany
Hex-t2 31 32
  • 38 (a)
 ManyToMany
Hex-t1 32
  • 31 (a)
Worm
(Caenorhabditis elegans)
 Secernentea F14B4.2 31 32
  • 41 (a)
 OneToMany
H25P06.1 32
  • 40 (a)
Y77E11A.1 32
  • 32 (a)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HXK1 31
  • 31 (a)
 ManyToMany
HXK2 31
  • 28 (a)
 ManyToMany
GLK1 31
  • 27 (a)
 ManyToMany
EMI2 31
  • 27 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.11095 31
  • 46 (a)
 OneToMany
Species where no ortholog for GCK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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 Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GCK Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
817706 Likely Pathogenic: not provided 44,145,269(-) CGCTCCTTGAA/C
NM_000162.3:c.1255_1264delTTCAAGGAGC
872750 Likely Benign: not provided 44,145,502(-) G/A
NM_000162.5(GCK):c.1248C>T (p.His416=) 		SYNONYMOUS
872751 Pathogenic: not provided 44,145,620(-) C/A
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu) 		MISSENSE_VARIANT,FIVE_PRIME_UTR
872752 Pathogenic: not provided 44,152,327(-) T/A
NM_000162.5(GCK):c.307A>T (p.Thr103Ser) 		MISSENSE
908614 Uncertain Significance: Maturity-onset diabetes of the young, type 2; Hyperinsulinism due to glucokinase deficiency; Permanent neonatal diabetes mellitus; Transient Neonatal Diabetes, Recessive 44,145,630(-) C/A
NM_000162.5(GCK):c.1120G>T (p.Val374Leu) 		MISSENSE_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GCK Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

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

Disorders for GCK Gene

MalaCards: The human disease database

(47) MalaCards diseases for GCK Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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:8878425, ECO:0000269 PubMed:9049484, ECO:0000269 PubMed:9662401}. Note=The disease is caused by variants 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 variants 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 body's 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 variants affecting the gene represented in this entry.
  • Diabetes mellitus, permanent neonatal 1 (PNDM1) [MIM:606176]: An autosomal recessive form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. {ECO:0000269 PubMed:11372010, ECO:0000269 PubMed:25015100}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GCK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GCK: view

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 23 41
  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 41
  3. Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus. (PMID: 1360036) Katagiri H … Oka Y (Lancet (London, England) 1992) 3 4 23 74
  4. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. (PMID: 20081858) Dupuis J … Barroso I (Nature genetics 2010) 3 23 41
  5. Common variants at the GCK, GCKR, G6PC2-ABCB11 and MTNR1B loci are associated with fasting glucose in two Asian populations. (PMID: 19937311) Takeuchi F … Kato N (Diabetologia 2010) 3 23 41

ExternalLinks

View latest publications for GCK gene in Mastermind

Products for GCK Gene