POMC

Chr 2p23.3

proopiomelanocortin

Aliases:: MSH, POC, CLIP, ACTH, NPP
MANE:: ENST00000395826.7

OMIM: 176830 ↗NCBI: 5443 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

POMC · P01189

v62025-08-01

Predicted Aligned Error matrix for POMC — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.7/ 100

Low

267 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)22%
Low(50–70)43%
Very low(< 50)35%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Severe early-onset obesity
BIALLELIC, autosomal or pseudoautosomal
Congenital adrenal hypoplasia

Disease associations (Open Targets)

obesity due to pro-opiomelanocortin deficiency
0.70
Obesity
0.51
obesity disorder
0.44
inherited obesity
0.42
hereditary disease
0.42
autoimmune disease
0.38
hair color
0.37
adrenal gland disorder
0.37
cardiovascular disorder
0.31
uterine corpus leiomyoma
0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Pro-opiomelanocortin

Precursor protein of pituitary hormones that are involved in diverse physiological processes, including the regulation of energy balance, stress response, immune function and skin pigmentation