GCKR (glucokinase regulator)

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Gene Gene information from NCBI Gene database.
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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
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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.
26 Show/Hide all (26)
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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.
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MIM HGNC e!Ensembl
600842 4196 ENSG00000084734
Protein Protein information from UniProt database.
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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.
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Reactome Pathway
Regulation of Glucokinase by Glucokinase Regulatory Protein
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
51
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (51)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANKYLOSING SPONDYLITIS — GWAS catalog 26974007
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog 27790247
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog 38858783
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER — GWAS catalog 27790247
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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MLXIPL 7 shared diseasesCancer, Cholecystolithiasis, Diabetes mellitus, Hyperlipidemia, Lipoprotein lipase deficiency, Gallstones, Kidney failure 10 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Cholecystolithiasis), GWAS catalog (Diabetes mellitus), GWAS catalog (Hyperlipidemia), GWAS catalog (Lipoprotein lipase deficiency), GWAS catalog (Gallstones), GWAS catalog (Heart failure), Disgenet (Kidney failure), GWAS catalog (Nonalcoholic fatty liver disease), GWAS catalog (Stroke) Related via 7 shared diseases including Cancer, Cholecystolithiasis — evidence mostly GWAS catalog. ZPR1 6 shared diseasesCancer, Diabetes mellitus, Hyperlipidemia, Lipoprotein lipase deficiency, Gallstones, Hypertriglyceridemia 9 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Diabetes mellitus), GWAS catalog (Hyperlipidemia), GWAS catalog (Lipoprotein lipase deficiency), GWAS catalog (Gallstones), GWAS catalog (Heart failure), Disgenet (Hypertriglyceridemia), GWAS catalog (Hypertriglyceridemia), GWAS catalog (Stroke) Related via 6 shared diseases including Cancer, Diabetes mellitus — evidence mostly GWAS catalog. GIPR 6 shared diseasesCholecystolithiasis, Diabetes mellitus, Diabetic retinopathy, Gallstones, Nephrolithiasis, Urolithiasis 7 shared evidence sourcesGWAS catalog (Cholecystolithiasis), GWAS catalog (Diabetes mellitus), GWAS catalog (Diabetic retinopathy), GWAS catalog (Gallstones), GWAS catalog (Heart failure), GWAS catalog (Nephrolithiasis), GWAS catalog (Urolithiasis) Related via 6 shared diseases including Cholecystolithiasis, Diabetes mellitus — evidence mostly GWAS catalog. THADA 6 shared diseasesCancer, Cholecystolithiasis, Diabetes mellitus, Diabetic eye disease, Diabetic retinopathy, Sclerosing cholangitis 9 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Cancer), GWAS catalog (Cholecystolithiasis), GWAS catalog (Diabetes mellitus), Disgenet (Diabetes mellitus type 2), CTD (Diabetes mellitus type 2), GWAS catalog (Diabetic eye disease), GWAS catalog (Diabetic retinopathy), GWAS catalog (Sclerosing cholangitis) Related via 6 shared diseases including Cancer, Cholecystolithiasis — evidence mostly GWAS catalog. FADS1 6 shared diseasesCancer, Cholecystolithiasis, Diabetes mellitus, Hyperlipidemia, Lipoprotein lipase deficiency, Gallstones 8 shared evidence sourcesGWAS catalog (Cancer), GWAS catalog (Cholecystolithiasis), GWAS catalog (Diabetes mellitus), GWAS catalog (Hyperlipidemia), GWAS catalog (Lipoprotein lipase deficiency), GWAS catalog (Gallstones), GWAS catalog (Heart failure), GWAS catalog (Stroke) Related via 6 shared diseases including Cancer, Cholecystolithiasis — evidence mostly GWAS catalog.
Myocardial infarction Linked via 4 of 5 related genesMLXIPL, ZPR1, GIPR, THADA Alzheimer disease Linked via 3 of 5 related genesMLXIPL, GIPR, FADS1 Obesity Linked via 3 of 5 related genesMLXIPL, ZPR1, GIPR Migraine Linked via 2 of 5 related genesMLXIPL, THADA Myocardial ischemia Linked via 2 of 5 related genesMLXIPL, ZPR1