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Aliases for GCKR Gene

Aliases for GCKR Gene

  • Glucokinase Regulator 2 3 4 5
  • Hexokinase 4 Regulator 2 3
  • GKRP 3 4
  • Glucokinase (Hexokinase 4) Regulatory Protein 2
  • Glucokinase (Hexokinase 4) Regulator 3
  • Glucokinase Regulatory Protein 3
  • FGQTL5 3

External Ids for GCKR Gene

Previous GeneCards Identifiers for GCKR Gene

  • GC02P027641
  • GC02P027812
  • GC02P027694
  • GC02P027631
  • GC02P027573
  • GC02P027720

Summaries for GCKR Gene

Entrez Gene Summary for GCKR Gene

  • This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]

GeneCards Summary for GCKR Gene

GCKR (Glucokinase Regulator) is a Protein Coding gene. Diseases associated with GCKR include Fasting Plasma Glucose Level Qtl 5 and Maturity-Onset Diabetes Of The Young. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include enzyme binding and protein domain specific binding.

UniProtKB/Swiss-Prot for GCKR Gene

  • Inhibits glucokinase (GCK) by forming an inactive complex with this enzyme. The affinity of GCKR for GCK is modulated by fructose metabolites: GCKR with bound fructose 6-phosphate has increased affinity for GCK, while GCKR with bound fructose 1-phosphate has strongly decreased affinity for GCK and does not inhibit GCK activity.

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

Genomics for GCKR Gene

Regulatory Elements for GCKR Gene

Enhancers for GCKR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G027427 1.1 ENCODE 10.6 -67.0 -67031 4.8 HDGF PKNOX1 CREB3L1 ARNT AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 SNX17 GPN1 CAD LOC105374363 NRBP1 GTF3C2-AS1 ZNF513 FNDC4 GCKR IFT172
GH02G027461 0.6 ENCODE 10.8 -35.5 -35531 0.2 ARID1B TCF12 NFIC SMARCA4 NCOR1 TAL1 ZNF512 SPI1 FNDC4 GCKR IFT172 SUPT7L SLC4A1AP ENSG00000235267 RNU6-986P GC02M027477
GH02G027565 0.5 ENCODE 10.6 +70.0 70044 2.3 GATA2 JUN FOS FNDC4 IFT172 GCKR GPN1 CCDC121 KRTCAP3 NRBP1 RNU6-986P CGREF1 LOC100420668
GH02G027573 0.4 ENCODE 9.7 +76.5 76450 0.2 NR2F1 TBX21 IFT172 FNDC4 GCKR ENSG00000206731 GPN1 LOC100420668 PIR34412
GH02G027574 0.4 ENCODE 9.7 +76.8 76810 0.2 NR2F1 SNX17 IFT172 FNDC4 GCKR ENSG00000206731 LOC100420668 PIR34412
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GCKR on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GCKR gene promoter:

Genomic Location for GCKR Gene

Chromosome:
2
Start:
27,496,839 bp from pter
End:
27,523,689 bp from pter
Size:
26,851 bases
Orientation:
Plus strand

Genomic View for GCKR Gene

Genes around GCKR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GCKR Gene

Proteins for GCKR Gene

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

    Protein Symbol:
    Q14397-GCKR_HUMAN
    Recommended name:
    Glucokinase regulatory protein
    Protein Accession:
    Q14397
    Secondary Accessions:
    • A1L4C2
    • B4DPQ2
    • Q53RY6
    • Q99522

    Protein attributes for GCKR Gene

    Size:
    625 amino acids
    Molecular mass:
    68685 Da
    Quaternary structure:
    • Interacts (fructose 6-phosphate bound form) with GCK.

    Three dimensional structures from OCA and Proteopedia for GCKR Gene

    Alternative splice isoforms for GCKR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GCKR Gene

Post-translational modifications for GCKR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCKR Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GCKR (GCKR)
  • Abcam antibodies for GCKR

No data available for DME Specific Peptides for GCKR Gene

Domains & Families for GCKR Gene

Suggested Antigen Peptide Sequences for GCKR Gene

Graphical View of Domain Structure for InterPro Entry

Q14397

UniProtKB/Swiss-Prot:

GCKR_HUMAN :
  • Fructose 1-phosphate and fructose 6-phosphate compete for the same binding site.
  • Belongs to the GCKR family.
Domain:
  • Fructose 1-phosphate and fructose 6-phosphate compete for the same binding site.
Family:
  • Belongs to the GCKR family.
genes like me logo Genes that share domains with GCKR: view

No data available for Gene Families for GCKR Gene

Function for GCKR Gene

Molecular function for GCKR Gene

GENATLAS Biochemistry:
glucokinase regulatory protein 69kDa,,interacting non-covalently with GCR and inhibiting it in presence of fructose-6-phosphate
UniProtKB/Swiss-Prot Function:
Inhibits glucokinase (GCK) by forming an inactive complex with this enzyme. The affinity of GCKR for GCK is modulated by fructose metabolites: GCKR with bound fructose 6-phosphate has increased affinity for GCK, while GCKR with bound fructose 1-phosphate has strongly decreased affinity for GCK and does not inhibit GCK activity.

Gene Ontology (GO) - Molecular Function for GCKR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004857 enzyme inhibitor activity IEA --
GO:0005515 protein binding IPI 11522786
GO:0016301 kinase activity IEA --
GO:0019899 enzyme binding IEA --
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with GCKR: view
genes like me logo Genes that share phenotypes with GCKR: view

Animal Models for GCKR Gene

MGI Knock Outs for GCKR:

Animal Model Products

  • Taconic Biosciences Mouse Models for GCKR

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GCKR

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GCKR Gene

Localization for GCKR Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCKR Gene

Cytoplasm. Nucleus. Note=Under low glucose concentrations, GKRP associates with GCK and the inactive complex is recruited to the hepatocyte nucleus.

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 GCKR gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GCKR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GCKR: view

Pathways & Interactions for GCKR Gene

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

Pathways by source for GCKR Gene

Gene Ontology (GO) - Biological Process for GCKR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000060 protein import into nucleus, translocation ISS --
GO:0001678 cellular glucose homeostasis IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0009750 response to fructose IDA 14627435
GO:0010827 regulation of glucose transport TAS --
genes like me logo Genes that share ontologies with GCKR: view

No data available for SIGNOR curated interactions for GCKR Gene

Drugs & Compounds for GCKR Gene

(7) Drugs for GCKR Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-glucose Approved Pharma 0
Beta-D-Glucose Experimental Pharma 0
Glucose 6-phosphate Experimental Pharma 0

(8) Additional Compounds for GCKR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
genes like me logo Genes that share compounds with GCKR: view

Transcripts for GCKR Gene

Unigene Clusters for GCKR Gene

Glucokinase (hexokinase 4) regulator:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GCKR

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

No ASD Table

Relevant External Links for GCKR Gene

GeneLoc Exon Structure for
GCKR
ECgene alternative splicing isoforms for
GCKR

Expression for GCKR Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x39.5).

Protein differential expression in normal tissues from HIPED for GCKR Gene

This gene is overexpressed in Liver (68.4).

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



Protein tissue co-expression partners for GCKR Gene

NURSA nuclear receptor signaling pathways regulating expression of GCKR Gene:

GCKR

SOURCE GeneReport for Unigene cluster for GCKR Gene:

Hs.89771

mRNA Expression by UniProt/SwissProt for GCKR Gene:

Q14397-GCKR_HUMAN
Tissue specificity: Found in liver and pancreas. Not detected in muscle, brain, heart, thymus, intestine, uterus, adipose tissue, kidney, adrenal, lung or spleen.

Evidence on tissue expression from TISSUES for GCKR Gene

  • Liver(4.7)
genes like me logo Genes that share expression patterns with GCKR: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GCKR Gene

Orthologs for GCKR Gene

This gene was present in the common ancestor of chordates.

Orthologs for GCKR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GCKR 34 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia GCKR 34 35
  • 89.12 (n)
-- 35
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gckr 34
  • 86.57 (n)
mouse
(Mus musculus)
Mammalia Gckr 16 35 34
  • 85.94 (n)
cow
(Bos Taurus)
Mammalia GCKR 34 35
  • 84.41 (n)
oppossum
(Monodelphis domestica)
Mammalia GCKR 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493477 34
  • 56.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68583 34
zebrafish
(Danio rerio)
Actinopterygii LOC100333044 34
  • 48.97 (n)
gckr 35
  • 42 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToOne
Species where no ortholog for GCKR 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GCKR Gene

ENSEMBL:
Gene Tree for GCKR (if available)
TreeFam:
Gene Tree for GCKR (if available)

Paralogs for GCKR Gene

No data available for Paralogs for GCKR Gene

Variants for GCKR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GCKR Gene

GCKR_HUMAN-Q14397
Genetic variations in GCKR define the fasting plasma glucose levels quantitative trait locus 5 (FGQTL5) [MIM:613463]. The normal fasting plasma glucose level is defined as less than 100 mg glucose per deciliter plasma (5.55 mmol per liter). Higher fasting plasma glucose levels predict type 2 diabetes in young adults and increases the risk of mortality.

Sequence variations from dbSNP and Humsavar for GCKR Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs375836361 Likely pathogenic 27,497,334(+) TTGTT(C/G/T)GACTG nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs386352306 Uncertain significance 27,508,197(+) TCCAT(C/T)ATCAG downstream-variant-500B, reference, synonymous-codon
rs1260326 other 27,508,073(+) CTTGC(C/T)GGTGA downstream-variant-500B, reference, missense
rs1000180397 -- 27,506,443(+) GGGGA(A/T)TTGGG intron-variant
rs1000251162 -- 27,513,130(+) ATCCA(C/T)TGATG intron-variant

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

Variant ID Type Subtype PubMed ID
esv3590140 CNV loss 21293372
nsv817684 CNV gain 17921354

Variation tolerance for GCKR Gene

Residual Variation Intolerance Score: 55.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GCKR Gene

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

Disorders for GCKR Gene

MalaCards: The human disease database

(5) MalaCards diseases for GCKR Gene - From: GeneTests, DISEASES, Novoseek, and GeneCards

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

Relevant External Links for GCKR

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

No data available for UniProtKB/Swiss-Prot and Genatlas for GCKR Gene

Publications for GCKR Gene

  1. The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population. (PMID: 18556336) Vaxillaire M. … Froguel P. (Diabetes 2008) 3 4 22 46 64
  2. Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. (PMID: 18678614) Orho-Melander M. … Kathiresan S. (Diabetes 2008) 3 4 22 46 64
  3. Organization of the human glucokinase regulator gene GCKR. (PMID: 9570959) Hayward B.E. … Bonthron D.T. (Genomics 1998) 2 3 4 22 64
  4. Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples. (PMID: 20160193) Weissglas-Volkov D. … Pajukanta P. (Circ Cardiovasc Genet 2010) 3 22 46 64
  5. Functional variants of glucokinase regulatory protein and apolipoprotein A5 genes in ischemic stroke. (PMID: 19847674) JA!romi L. … Melegh B. (J. Mol. Neurosci. 2010) 3 22 46 64

Products for GCKR Gene

Sources for GCKR Gene

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