GCKR (glucokinase regulator)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2646
Gene name Glucokinase regulator
Gene symbol GCKR
Synonyms (NCBI Gene)
FGQTL5GKRP
Chromosome 2
Chromosome location 2p23.3
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 inacti
SNPs SNP information provided by dbSNP.
2
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs146175795 G>A,T Likely-pathogenic Non coding transcript variant, missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs576152450 C>T Likely-pathogenic Stop gained, genic downstream transcript variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0001678 Process Intracellular glucose homeostasis IBA
GO:0005515 Function Protein binding IPI 11522786, 32296183
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IBA
GO:0005654 Component Nucleoplasm ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600842 4196 ENSG00000084734
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14397
Protein name Glucokinase regulatory protein (GKRP) (Glucokinase regulator)
Protein function Regulates glucokinase (GCK) by forming an inactive complex with this enzyme (PubMed:23621087, PubMed:23733961). Acts by promoting GCK recruitment to the nucleus, possibly to provide a reserve of GCK that can be quickly released in the cytoplasm
PDB 4BB9 , 4BBA , 4LY9 , 4MQU , 4MRO , 4MSU , 4OHK , 4OHM , 4OHO , 4OHP , 4OLH , 4OP1 , 4OP2 , 4OP3 , 4PX2 , 4PX3 , 4PX5 , 4PXS
Family and domains
Tissue specificity TISSUE SPECIFICITY: Found in liver and pancreas. Not detected in muscle, brain, heart, thymus, intestine, uterus, adipose tissue, kidney, adrenal, lung or spleen. {ECO:0000269|PubMed:19643913, ECO:0000269|PubMed:9570959}.
Sequence 
MPGTKRFQHVIETPEPGKWELSGYEAAVPITEKSNPLTQDLDKADAENIVRLLGQCDAEI
FQEEGQALSTYQRLYSESILTTMVQVAGKVQEVLKEPDGGLVVLSGGGTSGRMAFLMSVS
FNQLMKGLGQKPLYTYLIAGGDRSVVASREGTEDSALHGIEELKKVAAGKKRVIVIGISV
GLSAPFVAGQMDCCMNNTAVFLPVLVGFNPVSMARNDPIEDWSSTFRQVAERMQKMQEKQ
KAFVLNPAIGPEGLSGSSRMKGGSATKILLETLLLAAHKTVDQGIAASQRCLLEILRTFE
RAHQVTYSQSPKIATLMKSVSTSLEKKGHVYLVGWQTLGIIAIMDGVECIHTFGADFRDV
RGFLIGDHSDMFNQKAELTNQGPQFTFSQEDFLTSILPSLTEIDTVVFIFTLDDNLTEVQ
TIVEQVKEKTNHIQALAHSTVGQTLPIPLKKLFPSIISITWPLLFFEYEGNFIQKFQREL
STKWVLNTVSTGAHVLLGKILQNHMLDLRISNSKLFWRALAMLQRFSGQSKARCIESLLR
AIHFPQPLSDDIRAAPISCHVQVAHEKEQVIPIALLSLLFRCSITEAQAHLAAAPSVCEA
VRSALAGPGQKRTADPLEILEPDVQ
Sequence length 625
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Regulation of Glucokinase by Glucokinase Regulatory Protein
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign; Likely benign; Uncertain significance rs143881585, rs764304584 RCV005928219
RCV005931443
Clear cell carcinoma of kidney Benign; Likely benign rs143881585 RCV005928218
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 Uncertain significance; Conflicting classifications of pathogenicity; Benign rs146053779, rs748731892, rs148025735, rs141361209, rs151082324, rs371460190, rs8179206, rs146175795, rs1260326, rs375836361, rs2466160513, rs745900416 RCV002476853
RCV002477925
RCV002506956
RCV002479777
RCV002479452
RCV002487009
RCV000490308
RCV000490466
RCV000009294
RCV005400441
RCV003333890
RCV004362767
GCKR-related disorder Uncertain significance; Conflicting classifications of pathogenicity; Likely benign rs200183362, rs8179206, rs199605744, rs368953418, rs779768324 RCV003963584
RCV003967564
RCV003429115
RCV003941750
RCV003932102
Show/Hide Text Mining Associations (54)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Albuminuria Associate 23586973
alpha 1 Antitrypsin Deficiency Associate 26174136
Breast Neoplasms Associate 28446149
Carcinoma Hepatocellular Associate 32762045
Cardiovascular Diseases Associate 20661421, 35085396
Carotid Artery Diseases Associate 35999016
Carotid Stenosis Associate 35999016
Chemical and Drug Induced Liver Injury Associate 26043229
Cholelithiasis Associate 40428345
Cholesterol pneumonia Associate 30369316