Gene table of POMC : proopiomelanocortin

Gene-disease associations table

Disease IDDisease nameSource of annotation with POMCOMIM linkNumber of associated genesgenes
609734PROOPIOMELANOCORTIN DEFICIENCYClinVar, OMIM link to OMIM 1POMC
601665OBESITYOMIM link to OMIM 15PPARGC1B, AGRP, PPARG, MC4R, ADRB3, CARTPT, UCP3, SIM1, POMC, ENPP1, ADRB2, SDC3, NR0B2, UCP1, GHRL

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Annotation of the gene POMC

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Melanogenesishsa049165.97
Adipocytokine signaling pathwayhsa049206.6
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Biological oxidationsR-HSA-2118595.55
G alpha (i) signalling eventsR-HSA-4185945.1
Peptide ligand-binding receptorsR-HSA-3752765.41
MetabolismR-HSA-14307282.34
G alpha (s) signalling eventsR-HSA-4185555.99
Metabolic disorders of biological oxidation enzymesR-HSA-55790297.85
Cytochrome P450 - arranged by substrate typeR-HSA-2118977.08
Peptide hormone metabolismR-HSA-29807366.61
DiseaseR-HSA-16436853.33
Peptide hormone biosynthesisR-HSA-2099529.4
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
GPCR ligand bindingR-HSA-5007924.19
Metabolism of steroid hormones and vitamin DR-HSA-1960717.89
GPCR downstream signalingR-HSA-3883963.07
Class A/1 (Rhodopsin-like receptors)R-HSA-3730764.69
Metabolism of proteinsR-HSA-3924993.41
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)R-HSA-557903111.98
Phase 1 - Functionalization of compoundsR-HSA-2119456.7
Androgen biosynthesisR-HSA-1930489.52
Glucocorticoid biosynthesisR-HSA-1940029.81
Signaling by GPCRR-HSA-3727902.68
Opioid SignallingR-HSA-1118856.64
G-protein activationR-HSA-2020408.18
Diseases of metabolismR-HSA-56689146.57
Endogenous sterolsR-HSA-2119768.46
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
hormone activityGO:00051794.95
neuropeptide hormone activityGO:00051846.34
type 3 melanocortin receptor bindingGO:00317818.35
melanocortin receptor bindingGO:00317798.35
type 4 melanocortin receptor bindingGO:00317828.35
bindingGO:00054880.18
protein bindingGO:00055150.46
type 1 melanocortin receptor bindingGO:00709968.64
neuropeptide receptor bindingGO:00718556.37
G-protein coupled receptor bindingGO:00016644.18
receptor bindingGO:00051022.43