Table 1.
Major genes with a β-cell phenotype linked to the different types of diabetes
| Gene symbol | Gene name | Function of gene product | Type(s) of diabetes |
|---|---|---|---|
| ABCC8 | ATP-binding cassette transporter subfamily C member 8 | Insulin secretion (modulation of ATP-sensitive potassium channels) | Type 2 diabetes; Monogenic diabetes |
| ADCY5 | Adenylate cyclase 5 | Regulation of calcium-dependent insulin secretion | Type 2 diabetes |
| AP3S2 | Adaptor related protein complex 3 subunit sigma 2 | Golgi vesicles formation and trafficking to lysosomes | Type 2 diabetes |
| ARAP1 | ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 | Regulation of Golgi structure and cytoskeleton; Cell migration | Type 2 diabetes |
| BCAR1 | BCAR1 scaffold protein, cas family member | Cell adhesion and migration | Type 2 diabetes |
| BCL11A | B-cell CLL/Lymphoma 11A (Zinc finger protein) | Lymphopoiesis; Negative regulation of p53 activity (transcriptional repressor) | Type 2 diabetes |
| C2CD4A | C2 calcium-dependent domain containing 4A | Transcription factor | Type 2 diabetes |
| CCND2 | Cyclin D2 | Cell cycle regulation | Type 2 diabetes |
| CDC123/CAMKID | Cell division cycle 123 homolog/Calmodulin dependent protein kinase ID | Cell cycle regulation | Type 2 diabetes |
| CDKAL1 | CDK5 regulatory subunit associated protein 1-like 1 | Growth and development; Proinsulin to insulin conversion | Type 2 diabetes |
| CDKN2A | Cyclin dependent kinase inhibitor 2A | Cell cycle regulation | Type 2 diabetes |
| CEL | Carboxyl ester lipase | Cholesterol and lipid-soluble vitamin ester hydrolysis | Monogenic diabetes |
| CENPW | Centromere protein W | Cell cycle regulation | Type 1 diabetes; Type 2 diabetes |
| CTSH | Cathepsin H | Lysosomal proteins degradation | Type 1 diabetes |
| DGKB | Diacylglycerol kinase beta | Cell signaling | Type 2 diabetes |
| G6PC2 | Glucose-6-phosphasase catalytic 2 | Glucose metabolism | Type 2 diabetes |
| GCK | Glucokinase | Glucose metabolism; β-cell growth and development | Monogenic diabetes |
| GIPR | Gastric inhibitory polypeptide receptor | Potentiation of insulin secretion | Type 2 diabetes |
| GLIS3 | GLIS family zinc finger 3 | β-cell growth and development; Transcription factor | Type 1 diabetes; Type 2 diabetes; Monogenic diabetes |
| GPSM1 | G protein signaling modulator 1 | Cell signaling | Type 2 diabetes |
| HHEX | Hematopoietically expressed homeobox | Growth and development; Transcription factor | Type 2 diabetes |
| HMG20A | High mobility group 20A | Transcription factor; Histone methylation | Type 2 diabetes |
| HMGA2 | High mobility group AT-Hook 2 | Transcription factor; Chromatin regulation/acetylation | Type 2 diabetes |
| HNF1A | Hepatic nuclear factor 1 α | β-cell growth and development; Transcription factor | Type 2 diabetes; Monogenic diabetes |
| HNF1B | Hepatic nuclear factor 1 β | β-cell growth and development; Transcription factor | Type 2 diabetes; Monogenic diabetes |
| HNF4A | Hepatic nuclear factor 4 α | β-cell growth and development; Transcription factor | Monogenic diabetes |
| HSD17B12 | Hydroxysteroid 17-β dehydrogenase 12 | Metabolism of steroid hormones | Type 2 diabetes |
| IDE | Insulin-degrading enzyme | Peptide degradation (including insulin, IAPP and glucagon) | Type 2 diabetes |
| INS | Insulin | Insulin production | Type 1 diabetes; Type 2 diabetes; Monogenic diabetes |
| IGF2BP2 | Insulin-like growth factor 2 binding protein 2 | β-cell growth and development; Transcription factor | Type 2 diabetes |
| JAZF1 | Juxta-posed with another zinc finger gene 1 | Cell cycle regulation; Transcriptional repressor | Type 2 diabetes |
| KCNJ11 | Potassium voltage-gated channel subfamily J member 11 | Insulin secretion | Type 2 diabetes; Monogenic diabetes |
| KCNQ1 | Potassium voltage-gated channel subfamily Q member 1 | Insulin secretion | Type 2 diabetes |
| KLF11 | Kruppel like factor 11 | Exocrine cell growth and development; Transcription factor | Monogenic diabetes |
| MTNR1B | Melatonin receptor 1B | Mediation of melatonin actions (including inhibitory effect on insulin secretion) | Type 2 diabetes |
| NEUROD1 | Neurogenic differentiation 1 | Growth and development; Transcription factor | Monogenic diabetes |
| NOTCH2 | Neurogenic locus notch homolog protein 2 | Growth and development; Transcription factor | Type 2 diabetes |
| PAM | Peptidylglycine α-amidating monooxygenase | β-cell processing enzyme | Type 2 diabetes |
| PAX4 | Paired box gene 4 | β-cell development and differentiation; Transcription factor | Type 2 diabetes; Monogenic diabetes |
| PDX1 | Pancreatic and duodenal homeobox 1 | Pancreatic and β-cell growth and development; Transcription factor | Monogenic diabetes |
| PIM3 | Pim-3 proto-oncogene, serine/Threonine kinase | Cell signaling; Cell proliferation and survival | Type 2 diabetes |
| PTPN2 | Protein tyrosine phosphatase non-receptor type 2 | Cell survival | Type 1 diabetes |
| PTPN9 | Protein tyrosine phosphatase non-receptor type 9 | Cell signaling; Cell growth and differentiation; Cell cycle regulation | Type 2 diabetes |
| PRC1 | Protein regulator of cytokinesis 1 | Cell cycle regulation | Type 2 diabetes |
| PROX1 | Prospero homeobox 1 | Transcription factor | Type 2 diabetes |
| RNLS | Renalase | Modulator of immune-mediated β-cell death | Type 1 diabetes |
| RREB1 | Ras responsive element binding protein 1 | Transcription factor | Type 2 diabetes |
| Cell differentiation | |||
| SLC30A8 | Solute carrier family 30 member 8 | Proinsulin and proIAPP conversion | Type 2 diabetes |
| SPRY2 | Sprouty RTK signaling antagonist 2 | Cell signaling | Type 2 diabetes |
| TCF7L2 | Transcription factor 7 like 2 | Blood glucose homeostasis; Transcription factor | Type 2 diabetes; Cystic fibrosis–related diabetes |
| THADA | Thyroid adenoma associated protein | Cell survival | Type 2 diabetes |
| WFS1 | Wolframin ER transmembrane glycoprotein | Regulation of cellular calcium homeostasis | Type 2 diabetes; Monogenic diabetes |
| ZBED3 | Zinc finger BED-type containing 3 | Transcription factor | Type 2 diabetes |