Table 1.

Genes Associated with Diabetes: Overview of their Target Tissue¹, Function², and Related Medication³

Diabetes Gene	Proposed Diabetes Target Cell Type / Tissue1	Monogenic Diabetes4	Type 2 Diabetes5	Proposed Function(s) for Gene Product2	Drug(s) Affecting the Same Pathway as the Diabetes Gene3
ABCC8	Pancreas β-Cell	X		- B-cell ion homeostasis and insulin secretion; ATP-binding cassette transporter that modulates ATP-sensitive potassium channels and insulin release	Sulfonylurea derivatives
ADAMTS9	Unknown		X	- Cleavage of proteoglycans	Unknown
CDC123	Pancreas β-Cell		X	- Cell cycle regulation	Unknown
CDKAL1	Pancreas β-Cell		X	- Growth and development - Proinsulin to insulin conversion	Unknown
CDKN2A	Pancreas β-Cell		X	- Cell cycle regulation	Unknown
CEL	Unknown	X		- Glycoprotein that is important in regulation of cholesterol metabolism	Unknown
FTO	Hypothalamus		X	- Associated to obesity	Unknown
GCK	Unknown	X		- Catalyzes reaction from glucose to glucose-6-phosphate	Unknown
HHEX	Pancreas β-Cell		X	- Growth and development; transcription factor	Unknown
HNF4α	Pancreas β-Cell	X		- Growth and development; transcription factor	Unknown
IDE	Pancreas β-Cell		X	- Termination of the response to insulin	Unknown
IGF2BP2	Pancreas β-Cell		X	- Growth and development	Unknown
JAZF1	Pancreas β-Cell		X	- Cell cycle regulation; transcriptional repressor	Unknown
KCNJ11	Pancreas β-Cell	X	X	- B-cell ion homeostasis and insulin secretion	Sulfonylurea derivatives
KCNQ1	Pancreas β-Cell		X	- B-cell ion homeostasis and insulin secretion	Sulfonylurea derivatives
KLF11	Unknown	X		- Unknown	Unknown
NEUROD1	Pancreas β-Cell	X		- Growth and development; transcription factor that activates several genes including insulin and is important for early β-cell development	Unknown
NOTCH2	Pancreas β-Cell		X	- Growth and development; transcription factor; receptor for membrane bound ligands	Unknown
PDX1	Pancreas β-Cell	X		- Growth and development; nuclear protein that acts as a transcriptional activator of several genes including insulin and is important for early β-cell development	Unknown
PPARG	Adipocyte		X	- Nuclear receptor (transcription factor) that regulates adipocyte differentiation	Thiazolidinediones
SLC30A8	Pancreas β-Cell		X	- B-cell ion homeostasis and insulin secretion; cellular efflux of Zn2+ ions - Proinsulin to insulin conversion	Sulfonylurea derivatives
TCF1	Pancreas β-Cell	X		- Growth and development; Transcription factor that forms a complex with the product of TCF2 important for Wnt signaling	Unknown
TCF2	Pancreas β-Cell	X	X	- Growth and development; transcription factor that forms a complex with the product of TCF1 important for Wnt signaling - Cell cycle regulation	Unknown
TCF7L2	Pancreas β-Cell		X	- Wnt signaling - Proinsulin to insulin conversion	Unknown
THADA	Pancreas β-Cell		X	- Apoptosis	Unknown
TSPAN8	Unknown		X	- Glycoprotein involved in the mediation of signal transduction	Unknown
WFS1	Pancreas β-Cell	X	X	- Apoptosis; Endoplasmic Reticulum stress pathway activation	Unknown

Genes included in the list are involved in type 2 diabetes, Maturity Onset Diabetes of the Young (MODY), or Permanent Neonatal Diabetes Mellitus (PNDM). The cut-off p-value for the inclusion of type 2 diabetes genes identified by GWAS is 1 x 10^-8 [12, 21-23]. The third and fourth columns of the table show whether a gene is involved in monogenic⁴ or complexly inherited type 2 diabetes⁵.