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    GCKR glucokinase regulator [ Homo sapiens (human) ]

    Gene ID: 2646, updated on 10-Dec-2024

    Summary

    Official Symbol
    GCKRprovided by HGNC
    Official Full Name
    glucokinase regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:4196
    See related
    Ensembl:ENSG00000084734 MIM:600842; AllianceGenome:HGNC:4196
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GKRP; FGQTL5
    Summary
    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]
    Expression
    Biased expression in liver (RPKM 19.0), stomach (RPKM 3.8) and 3 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GCKR in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27496839..27523684)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27539204..27566046)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27719706..27746551)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene intraflagellar transport 172 Neighboring gene RNA, U6 small nuclear 986, pseudogene Neighboring gene fibronectin type III domain containing 4 Neighboring gene Sharpr-MPRA regulatory region 4379 Neighboring gene SPATA31 subfamily H member 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27788766-27789965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15508 Neighboring gene zinc finger protein 512

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Fasting plasma glucose level quantitative trait locus 5
    MedGen: C3150714 OMIM: 613463 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
    EBI GWAS Catalog
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    EBI GWAS Catalog
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog
    A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
    EBI GWAS Catalog
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Common genetic variation near MC4R is associated with waist circumference and insulin resistance.
    EBI GWAS Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    EBI GWAS Catalog
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    EBI GWAS Catalog
    Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
    EBI GWAS Catalog
    Fasting glucose GWAS candidate region analysis across ethnic groups in the Multiethnic Study of Atherosclerosis (MESA).
    EBI GWAS Catalog
    Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
    EBI GWAS Catalog
    Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
    EBI GWAS Catalog
    Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
    EBI GWAS Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog
    Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
    EBI GWAS Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    EBI GWAS Catalog
    Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
    EBI GWAS Catalog
    Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
    EBI GWAS Catalog
    Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
    EBI GWAS Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
    EBI GWAS Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog
    Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
    EBI GWAS Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    EBI GWAS Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    EBI GWAS Catalog
    Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.
    EBI GWAS Catalog
    Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
    EBI GWAS Catalog
    Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog
    New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    EBI GWAS Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables fructose-6-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables fructose-6-phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glucose sensor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glucose sensor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables kinase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables kinase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate derivative metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular glucose homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of glucokinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization to nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to fructose IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to glucose IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in triglyceride homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in urate metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    glucokinase regulatory protein
    Names
    glucokinase (hexokinase 4) regulator
    hexokinase 4 regulator

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028024.1 RefSeqGene

      Range
      5001..31846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001486.4NP_001477.2  glucokinase regulatory protein

      See identical proteins and their annotated locations for NP_001477.2

      Status: REVIEWED

      Source sequence(s)
      BC130483, CD368544, DA011063, Z48475
      Consensus CDS
      CCDS1757.1
      UniProtKB/Swiss-Prot
      A1L4C2, B4DPQ2, Q14397, Q53RY6, Q99522
      UniProtKB/TrEMBL
      A0A0C4DFN2
      Related
      ENSP00000264717.2, ENST00000264717.7
      Conserved Domains (2) summary
      TIGR00274
      Location:293543
      TIGR00274; N-acetylmuramic acid 6-phosphate etherase
      cl00389
      Location:38273
      SIS; SIS domain. SIS (Sugar ISomerase) domains are found in many phosphosugar isomerases and phosphosugar binding proteins. SIS domains are also found in proteins that regulate the expression of genes involved in synthesis of phosphosugars.

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27496839..27523684
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532763.1XP_011531065.1  glucokinase regulatory protein isoform X2

      Conserved Domains (1) summary
      cl00389
      Location:38273
      SIS; SIS domain. SIS (Sugar ISomerase) domains are found in many phosphosugar isomerases and phosphosugar binding proteins. SIS domains are also found in proteins that regulate the expression of genes involved in synthesis of phosphosugars.
    2. XM_017003796.2XP_016859285.1  glucokinase regulatory protein isoform X1

      UniProtKB/TrEMBL
      B4E1D0
      Conserved Domains (2) summary
      TIGR00274
      Location:103353
      TIGR00274; N-acetylmuramic acid 6-phosphate etherase
      cl00389
      Location:292351
      SIS; SIS domain. SIS (Sugar ISomerase) domains are found in many phosphosugar isomerases and phosphosugar binding proteins. SIS domains are also found in proteins that regulate the expression of genes involved in synthesis of phosphosugars.
    3. XM_017003797.2XP_016859286.1  glucokinase regulatory protein isoform X1

      UniProtKB/TrEMBL
      B4E1D0
      Conserved Domains (2) summary
      TIGR00274
      Location:103353
      TIGR00274; N-acetylmuramic acid 6-phosphate etherase
      cl00389
      Location:292351
      SIS; SIS domain. SIS (Sugar ISomerase) domains are found in many phosphosugar isomerases and phosphosugar binding proteins. SIS domains are also found in proteins that regulate the expression of genes involved in synthesis of phosphosugars.

    RNA

    1. XR_001738699.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27539204..27566046
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341358.1XP_054197333.1  glucokinase regulatory protein isoform X2

    2. XM_054341356.1XP_054197331.1  glucokinase regulatory protein isoform X1

      UniProtKB/TrEMBL
      B4E1D0
    3. XM_054341357.1XP_054197332.1  glucokinase regulatory protein isoform X1

      UniProtKB/TrEMBL
      B4E1D0

    RNA

    1. XR_008486322.1 RNA Sequence