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| The Chromosome 7 Annotation Project |
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| Gene / Transcript Structure |
| General information |
| Class | Known_Gene |
| TCAG Gene ID | GA0117 [Old ID: HSC7000117] |
| Gene Symbol | GCK [HUGO ID: GCK] |
| Gene Name | Glucokinase (hexokinase 4, maturity onset diabetes of the young 2) |
| Synonyms | GK, GLK, HK4, HKIV, HXKP, MODY2, NIDDM |
| Summary | Summary: Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), also called maturity onset diabetes of the young, type 2 (MODY2); mutations have also been associated with persistent hyperinsulinemic hypoglycemia of infancy (PHHI). |
| Omim | Glucokinase (hexokinase-4) | 138079 |
| Phenotype | Diabetes mellitus, neonatal-onset [606176] Hyperinsulinism, familial [602485] MODY, type II [125851] |
| Gene Ontology | |
| Transcript | GCK | T00098 | NM_000162.2 GCK_transcript_variant_1 | T00099 | NM_033507.1 GCK_transcript_variant_2 | T00100 | NM_033508.1 |
| External links |
| LocusLink | 2645 |
| RefSeq | NM_000162 | NP_000153 NM_033507 | NP_277042 NM_033508 | NP_277043 |
| GenBank | AC006454 [genome] AF041013 [genome] AF041014 [genome] AF041022 [genome] AK122876 [mRNA] BC001890 [mRNA] BT007062 [mRNA] M69051 [mRNA] M88011 [mRNA] M90299 [mRNA] |
| PubMed | 15009676, 14747279, 14702039, 14617577, 14578306, 14517946, 12941786, 12627330, 12477932, 12442280, 12101177, 12050210, 11914755, 11756407, 11237213, 11112984, 9270716, 1871135, 1740341, 1612194, 1570017, 1511800, 1502186, 1354840 |
| ABI Gene Expression "Assays-on-Demand™" | Hs00175951_m1 Hs00277220_m1 |
| Affymetrix GeneChip | U133A U95A|37807_at |
| Transcript Sequence(s) |
Note: Some data originated from NCBI's LocusLink.