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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 Quantitative Trait Locus 5 and Maturity-Onset Diabetes Of The Young. Among its related pathways are Glycosaminoglycan metabolism and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (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.

Additional gene information for GCKR Gene

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

GeneHancer (GH) Regulatory Elements for GCKR Gene

Promoters and enhancers for GCKR 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
GH02I027496 Promoter/Enhancer 1.4 EPDnew ENCODE 550.8 +0.1 98 1 FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 RXRA SP5 ZHX2 GCKR FNDC4 GC02P027503 GC02M027478
GH02I027427 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.6 -67.0 -67031 4.8 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 NRBP1 GC02M027429 SNX17 ZNF513 FNDC4 GCKR IFT172 RNU6-986P GPN1 CCDC121
GH02I027595 Promoter 0.7 EPDnew 10.2 +98.8 98774 0.1 ZNF280A ZNF512 TRIM28 ZNF512 GPN1 CCDC121 GCKR FNDC4 IFT172 ENSG00000259080 GC02M027478
GH02I027461 Enhancer 0.6 ENCODE 10.8 -35.5 -35530 0.2 TEAD4 TAL1 CBFA2T3 TCF12 NFIC NCOR1 HDAC2 SMARCA4 CBFA2T2 SPI1 FNDC4 GCKR IFT172 SUPT7L SLC4A1AP ENSG00000235267 RNU6-986P GC02M027477
GH02I027565 Enhancer 0.3 ENCODE 10.6 +70.0 70044 2.3 JUN FNDC4 IFT172 GCKR GPN1 CCDC121 KRTCAP3 NRBP1 RNU6-986P CGREF1 LOC100420668
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GCKR on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for GCKR Gene

Genomic Locations for GCKR Gene
chr2:27,496,839-27,523,689
(GRCh38/hg38)
Size:
26,851 bases
Orientation:
Plus strand
chr2:27,719,706-27,746,554
(GRCh37/hg19)

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

No data available for DME Specific Peptides for GCKR Gene

Domains & Families for GCKR Gene

Gene Families for GCKR Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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.

Phenotypes From GWAS Catalog for GCKR Gene

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

Clone Products

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
See all subcellular structures

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:0006110 regulation of glycolytic process TAS --
GO:0009750 response to fructose IDA 14627435
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

(9) Drugs for GCKR Gene - From: ClinicalTrials, 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
Olive Nutra 310

(7) 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:

Clone Products

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

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 33
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GCKR 34 33
  • 89.12 (n)
OneToMany
-- 34
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gckr 33
  • 86.57 (n)
mouse
(Mus musculus)
Mammalia Gckr 34 16 33
  • 85.94 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GCKR 34 33
  • 84.41 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GCKR 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493477 33
  • 56.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68583 33
zebrafish
(Danio rerio)
Actinopterygii LOC100333044 33
  • 48.97 (n)
gckr 34
  • 42 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1260326 association, Fasting plasma glucose level quantitative trait locus 5 27,508,073(+) T/C coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs146175795 likely-pathogenic, Fasting plasma glucose level quantitative trait locus 5 27,498,276(+) G/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs8179206 uncertain-significance, Fasting plasma glucose level quantitative trait locus 5 27,497,575(+) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs375836361 likely-pathogenic, not provided 27,497,334(+) C/G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained, upstream_transcript_variant
rs576152450 likely-pathogenic, not provided 27,522,472(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, stop_gained

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)

Additional Variant Information for GCKR Gene

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

SNP Genotyping and Copy Number Assay Products

Disorders for GCKR Gene

MalaCards: The human disease database

(6) MalaCards diseases for GCKR Gene - From: HGMD, OMIM, GTR, DISEASES, Novoseek, and GeneCards

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

Additional Disease Information for GCKR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 … DESIR Study Group (Diabetes 2008) 3 4 22 44 58
  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 44 58
  3. Organization of the human glucokinase regulator gene GCKR. (PMID: 9570959) Hayward BE … Bonthron DT (Genomics 1998) 2 3 4 22 58
  4. Functional variants of glucokinase regulatory protein and apolipoprotein A5 genes in ischemic stroke. (PMID: 19847674) Járomi L … Melegh B (Journal of molecular neuroscience : MN 2010) 3 22 44 58
  5. Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms. (PMID: 19861489) van der Harst P … Navis G (Human molecular genetics 2010) 3 22 44 58

Products for GCKR Gene

Sources for GCKR Gene

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