Table 1.
List of the obesity related genes included in the panel.
| Gene symbol | Gene name | Function related to appetite control or hypothalamic development | Relevance for human obesity |
|---|---|---|---|
| ADCY3 | Adenylate cyclase 3 | Involved in Gs signaling in hypothalamus, catalyzes the synthesis of cAMP | Variants associated with obesity |
| ARNT2 | Aryl hydrocarbon receptor nuclear translocator 2 | Regulates neuronal differentiation of hypothalamus | Role in the development of hypothalamus, animal models |
| BDNF | Brain-derived neurotrophic factor | Regulates neuronal differentiation of hypothalamus | Disease causing |
| CPE | Carboxypeptidase E | Peptide processing enzyme, cleaves neuropeptides | Variants associated with obesity |
| GRPR | Gastrin releasing peptide receptor | Involved in the regulation of satiety | Variants associated with obesity |
| ISL1 | ISL LIM homeobox 1 | Involved in differentiation of hypothalamic neurons and expression of POMC | Role in the development of hypothalamus, linkage analysis |
| LEP | Leptin | Inhibits food intake | Disease causing |
| LEPR | Leptin receptor | Leptin receptor | Disease causing |
| LRP2 | LDL receptor related protein 2 | Increases leptin-induced STAT3 activation in POMC-expressing neurons | Variants associated with obesity |
| MC3R | Melanocortin-3 receptor | Regulates energy homeostasis | Variants associated with obesity |
| MC4R | Melanocortin-4 receptor | Regulates appetite and energy homeostasis | Disease causing |
| MRAP2 | Melanocortin 2 receptor accessory protein | Regulates the function of melanocortin receptors | Disease causing |
| MYT1L | Myelin transcription factor 1 like | Transcription factor involved in development of hypothalamus | Variants associated with obesity |
| NEUROG3 | Neurogenin 3 | Transcription factor involved in development of hypothalamus | Role in the development of hypothalamus, animal models |
| NPY | Neuropeptide Y | Stimulates food intake | Variants associated with obesity |
| NTRK2 | Neurotrophic tyrosine kinase receptor type 2 | Regulates neuronal differentiation of hypothalamus, BDNF receptor | Disease causing |
| OTP | Orthopedia homeobox | Transcription factor involved in development of hypothalamus | Role in the development of hypothalamus, animal models |
| OXT | Oxytocin | Involved in appetite regulation | Role in hypothalamic circuit, animal models |
| PCSK1 | Proprotein convertase subtilisin/kexin type 1 | Involved in activation of processing of proteins and neuropeptide precursors | Disease causing |
| POMC | Pro-opiomelanocortin | Protein precursor cleaved into alfa-MSH and binds to MC4R | Disease causing |
| POU3F2 | POU class 3 homeobox 2 | Transcription factor involved in development of hypothalamus | Role in development of hypothalamus, CNV studies |
| SH2B1 | Src homology 2 B adapter protein 1 | Involved in modulation of leptin signaling | Disease causing |
| SIM1 | Single-minded homolog 1 | Regulates neuronal differentiation of hypothalamus | Disease causing |
| TUB | Tubby bipartite transcription factor | Involved in regulation of neuropeptides | Variants associated with obesity |