POMC (proopiomelanocortin)

2003-02-01  

Identity

HGNC
POMC
LOCATION
2p23.3
LOCUSID
5443
ALIAS
ACTH,CLIP,LPH,MSH,NPP,OBAIRH,POC
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5443
MIM: 176830
HGNC: 9201
Ensembl: ENSG00000115138

Variants:

dbSNP: 5443
ClinVar: 5443
TCGA: ENSG00000115138
COSMIC: POMC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115138ENST00000264708P01189
ENSG00000115138ENST00000380794P01189
ENSG00000115138ENST00000395826P01189
ENSG00000115138ENST00000405623P01189
ENSG00000115138ENST00000449220E9PHK5

Expression (GTEx)

0
5000
10000
15000
20000
25000
30000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MelanogenesisKEGGko04916
Adipocytokine signaling pathwayKEGGko04920
MelanogenesisKEGGhsa04916
Adipocytokine signaling pathwayKEGGhsa04920
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Peptide hormone biosynthesisREACTOMER-HSA-209952
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Metabolic disorders of biological oxidation enzymesREACTOMER-HSA-5579029
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)REACTOMER-HSA-5579031
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (s) signalling eventsREACTOMER-HSA-418555
G alpha (i) signalling eventsREACTOMER-HSA-418594
Opioid SignallingREACTOMER-HSA-111885
G-protein activationREACTOMER-HSA-202040
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Glucocorticoid biosynthesisREACTOMER-HSA-194002
Androgen biosynthesisREACTOMER-HSA-193048
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Endogenous sterolsREACTOMER-HSA-211976
Interleukin-4 and 13 signalingREACTOMER-HSA-6785807

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
pituitary gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378779732024Angiographic cross-filling between inferior petrosal sinuses and alteration of adrenocorticotropic hormone sampling results for tumor localization in Cushing disease.0
383431012024An analysis of POMC gene methylation and expression in patients with schizophrenia.0
384183952024Fluctuations in plasma adrenocorticotropic hormone concentration may predict the onset of immune checkpoint inhibitor-related hypophysitis.1
378779732024Angiographic cross-filling between inferior petrosal sinuses and alteration of adrenocorticotropic hormone sampling results for tumor localization in Cushing disease.0
383431012024An analysis of POMC gene methylation and expression in patients with schizophrenia.0
384183952024Fluctuations in plasma adrenocorticotropic hormone concentration may predict the onset of immune checkpoint inhibitor-related hypophysitis.1
364021742023α-MSH as a potential biomarker of severity and prognosis after intracerebral hemorrhage: A prospective cohort study.0
368647472023Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.1
370925392023Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use.3
371426492023The role of breast milk beta-endorphin and relaxin-2 on infant colic.0
373529032023Isolated autoimmune adrenocorticotropic hormone deficiency: A positive predictor of survival among cancer patients treated with checkpoint inhibitors.0
373961802023Maternal glucose intolerance during pregnancy affects offspring POMC expression and results in adult metabolic alterations in a sex-dependent manner.0
376083472023Alpha-melanocyte stimulating hormone (α-MSH): biology, clinical relevance and implication in melanoma.4
378433272023Proopiomelanocortin and its potential functions in the pathological synovium of patients with osteoarthritis.0
364021742023α-MSH as a potential biomarker of severity and prognosis after intracerebral hemorrhage: A prospective cohort study.0

Citation

Dessen P

POMC (proopiomelanocortin)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/53308/haematological-explorer/css/teaching-explorer/