POMC (proopiomelanocortin)

2003-02-01 Affiliation

Identity

HGNC

POMC

LOCATION

2p23.3

LOCUSID

5443

ALIAS

ACTH,CLIP,LPH,MSH,NPP,OBAIRH,POC

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000115138	ENST00000264708	P01189
ENSG00000115138	ENST00000380794	P01189
ENSG00000115138	ENST00000395826	P01189
ENSG00000115138	ENST00000405623	P01189
ENSG00000115138	ENST00000449220	E9PHK5

Expression (GTEx)

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

Pathway	Source	External ID
Melanogenesis	KEGG	ko04916
Adipocytokine signaling pathway	KEGG	ko04920
Melanogenesis	KEGG	hsa04916
Adipocytokine signaling pathway	KEGG	hsa04920
Metabolism of proteins	REACTOME	R-HSA-392499
Peptide hormone metabolism	REACTOME	R-HSA-2980736
Peptide hormone biosynthesis	REACTOME	R-HSA-209952
Disease	REACTOME	R-HSA-1643685
Diseases of metabolism	REACTOME	R-HSA-5668914
Metabolic disorders of biological oxidation enzymes	REACTOME	R-HSA-5579029
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)	REACTOME	R-HSA-5579031
Immune System	REACTOME	R-HSA-168256
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Signal Transduction	REACTOME	R-HSA-162582
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR ligand binding	REACTOME	R-HSA-500792
Class A/1 (Rhodopsin-like receptors)	REACTOME	R-HSA-373076
Peptide ligand-binding receptors	REACTOME	R-HSA-375276
GPCR downstream signaling	REACTOME	R-HSA-388396
G alpha (s) signalling events	REACTOME	R-HSA-418555
G alpha (i) signalling events	REACTOME	R-HSA-418594
Opioid Signalling	REACTOME	R-HSA-111885
G-protein activation	REACTOME	R-HSA-202040
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Metabolism of steroid hormones	REACTOME	R-HSA-196071
Glucocorticoid biosynthesis	REACTOME	R-HSA-194002
Androgen biosynthesis	REACTOME	R-HSA-193048
Biological oxidations	REACTOME	R-HSA-211859
Phase 1 - Functionalization of compounds	REACTOME	R-HSA-211945
Cytochrome P450 - arranged by substrate type	REACTOME	R-HSA-211897
Endogenous sterols	REACTOME	R-HSA-211976
Interleukin-4 and 13 signaling	REACTOME	R-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 ID	Year	Title	Citations
17122358	2006	Genetics of obesity in humans.	134
12697721	2003	Role of signal transducer and activator of transcription 3 in regulation of hypothalamic proopiomelanocortin gene expression by leptin.	116
23426689	2013	Acute and long-term suppression of feeding behavior by POMC neurons in the brainstem and hypothalamus, respectively.	115
19874574	2009	Genetical genomic determinants of alcohol consumption in rats and humans.	93
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19384953	2009	Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.	67
19770186	2009	Hormone and glucose signalling in POMC and AgRP neurons.	66
12165561	2002	A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism.	63
16459314	2006	A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.	52
17043312	2006	Role of Brg1 and HDAC2 in GR trans-repression of the pituitary POMC gene and misexpression in Cushing disease.	52

Citation

Dessen P

POMC (proopiomelanocortin)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/53308/pomc-(proopiomelanocortin)