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GCKR glucokinase regulator [ Homo sapiens (human) ]

Gene ID: 2646, updated on 12-Jun-2022

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
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Genomic context

See GCKR in Genome Data Viewer
Location:
2p23.3
Exon count:
20
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27496839..27523684)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27539204..27566046)
105.20220307 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 chromosome 2 open reading frame 16 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables enzyme inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables fructose-6-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables fructose-6-phosphate binding 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 carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in glucose homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of glucokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 response to fructose IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to fructose 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
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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
    Q14397
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    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

    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)