10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETranscription Factor
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II transcription regulatory region sequence-specific DNA bindingDNA-binding transcription repressor activity, RNA polymerase II-specificprotein bindingnegative regulation of transcription by RNA polymerase IIMODYobesity due to melanocortin 4 receptor deficiencydiabetes mellitusshort stature due to primary acid-labile subunit deficiency
AI summary not yet available. Showing NCBI Gene summary.
orthopedia homeobox
⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
obesity due to melanocortin 4 receptor deficiencyOpen Targets
diabetes mellitusOpen Targets
short stature due to primary acid-labile subunit deficiencyOpen Targets
hypoinsulinemic hypoglycemia and body hemihypertrophyOpen Targets
type 2 diabetes mellitusOpen Targets
central nervous system cancerOpen Targets
obesity due to leptin receptor gene deficiencyOpen Targets
obesity due to prohormone convertase I deficiencyOpen Targets
carcinoid tumorOpen Targets
hyperinsulinemic hypoglycemia, familial, 1Open Targets
Hyperandrogenism due to cortisone reductase deficiencyOpen Targets
obesity due to pro-opiomelanocortin deficiencyOpen Targets
hyperinsulinemic hypoglycemia, familial, 2Open Targets
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyOpen Targets
obesity and hypopigmentationOpen Targets
thyroid hormone resistance, generalized, autosomal recessiveOpen Targets
No pathogenic variants reported on ClinVar for this gene.