GCKR (glucokinase regulator)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2646
Gene name Gene Name - the full gene name approved by the HGNC.
Glucokinase regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GCKR
Synonyms (NCBI Gene) Gene synonyms aliases
FGQTL5, GKRP
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.3
Summary Summary of gene provided in NCBI Entrez 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 inacti
SNPs SNP information provided by dbSNP.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600842 4196 ENSG00000084734
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (14)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cholecystitis Cholecystitis N/A N/A GWAS
Cholelithiasis Cholelithiasis N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Diabetes Type 2 diabetes or schizophrenia (pleiotropy), Type 2 diabetes, Circulating leptin levels or type 2 diabetes, Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes (PheCode 250.2), Type 2 diabetes (adjusted for BMI) N/A N/A GWAS
Show/Hide Text Mining Associations (54)
Associations from Text Mining Disease 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