POMC (proopiomelanocortin)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5443
Gene name Proopiomelanocortin
Gene symbol POMC
Synonyms (NCBI Gene)
ACTHCLIPLPHMSHNPPOBAIRHPOC
Chromosome 2
Chromosome location 2p23.3
Summary This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depe
SNPs SNP information provided by dbSNP.
13
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
SNP ID Visualize variation Clinical significance Consequence
rs28932472 G>C Risk-factor, benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs121918111 C>A,G,T Pathogenic Stop gained, coding sequence variant, missense variant
rs121918112 T>A Pathogenic Stop gained, coding sequence variant
rs746815510 ->CACCCGAGGGGCCCCCGAGGGCCCC Pathogenic Coding sequence variant, frameshift variant
rs753856820 G>T Pathogenic 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT005899 hsa-miR-488-3p Luciferase reporter assayMicroarray 21168126
MIRT017417 hsa-miR-335-5p Microarray 18185580
MIRT735745 hsa-miR-383-3p Luciferase reporter assayqRT-PCR 31847355
MIRT735746 hsa-miR-384 Luciferase reporter assayqRT-PCR 31847355
MIRT005899 hsa-miR-488-3p Luciferase reporter assayqRT-PCR 31847355
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (49)
GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding IBA
GO:0001664 Function G protein-coupled receptor binding IDA 19452503
GO:0005102 Function Signaling receptor binding IMP 9620771
GO:0005179 Function Hormone activity IEA
GO:0005179 Function Hormone activity IMP 9620771
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
176830 9201 ENSG00000115138
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01189
Protein name Pro-opiomelanocortin (POMC) (Corticotropin-lipotropin) [Cleaved into: NPP; Melanotropin gamma (Gamma-MSH); Potential peptide; Corticotropin (Adrenocorticotropic hormone) (ACTH); Melanocyte-stimulating hormone alpha (Alpha-MSH) (Melanotropin alpha); Cortic
Protein function [Corticotropin]: Stimulates the adrenal glands to release cortisol.; [Melanocyte-stimulating hormone alpha]: Anorexigenic peptide. Increases the pigmentation of skin by increasing melanin production in melanocytes.; [Melanocy
PDB 4XNH , 4XPD , 4Y49 , 6TUB , 7F53 , 7F54 , 7PIV , 8F7Q , 8INR , 8IOC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08384 NPP 27 → 70 Pro-opiomelanocortin, N-terminal region Family
PF00976 ACTH_domain 74 → 91 Corticotropin ACTH domain Family
PF00976 ACTH_domain 136 → 155 Corticotropin ACTH domain Family
PF00976 ACTH_domain 218 → 236 Corticotropin ACTH domain Family
PF08035 Op_neuropeptide 237 → 264 Opioids neuropeptide Family
Tissue specificity TISSUE SPECIFICITY: ACTH and MSH are produced by the pituitary gland.
Sequence 
MPRSCCSRSGALLLALLLQASMEVRGWCLESSQCQDLTTESNLLECIRACKPDLSAETPM
FPGNGDEQPLTENPRKYVMGHFRWDRFGRRNSSSSGSSGAGQKREDVSAGEDCGPLPEGG
PEPRSDGAKPGPREGKRSYSMEHFRWGKPVGKKRRPVKVYPNGAEDESAEAFPLEFKREL
TGQRLREGDGPDGPADDGAGAQADLEHSLLVAAEKKDEGPYRMEHFRWGSPPKDKRYGGF
MTSEKSQTPLVTLFKNAIIKNAYKKGE
Sequence length 267
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Estrogen signaling pathway
Melanogenesis
Adipocytokine signaling pathway
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome 		  Opioid Signalling
Androgen biosynthesis
Glucocorticoid biosynthesis
G-protein activation
Peptide hormone biosynthesis
Endogenous sterols
Peptide ligand-binding receptors
G alpha (s) signalling events
G alpha (i) signalling events
Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)
Interleukin-4 and Interleukin-13 signaling
ADORA2B mediated anti-inflammatory cytokines production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
151
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Obesity Likely pathogenic; Pathogenic rs2149220092, rs753856820 RCV001823844
RCV002482865
Obesity due to pro-opiomelanocortin deficiency Pathogenic rs2465563629, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs1553400259, rs1573250294, rs1573254045 RCV002285116
RCV000014281
RCV000014282
RCV000014283
RCV000014285
RCV000014286
RCV000500140
RCV000825007
RCV000825008
POMC-related disorder Pathogenic rs746815510, rs781244602 RCV004533292
RCV004735782
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Inherited obesity Uncertain significance; Conflicting classifications of pathogenicity rs867377524, rs866305615, rs182121841, rs28932472, rs10654394, rs141309351, rs200370644 RCV003228568
RCV003322665
RCV003336011
RCV003227601
RCV003227844
RCV003227875
RCV005394760
Monogenic Non-Syndromic Obesity Benign; Likely benign; Uncertain significance rs10654394, rs756770132 RCV000284681
RCV000275874
Obesity, early-onset, susceptibility to Conflicting classifications of pathogenicity rs28932472 RCV000014284
Show/Hide Text Mining Associations (214)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Associate 35902876, 9758716
Acromegaly Associate 28865461
ACTH Deficiency Isolated Associate 18765507, 38035072
ACTH Deficiency Isolated Inhibit 35737586
Acth Independent Macronodular Adrenal Hyperplasia Associate 12940463, 19509103, 21252250, 22996146, 24034279, 29279458, 29587644, 31074783, 32570972, 35996143, 8528359, 8536140, 9260769
ACTH Secreting Pituitary Adenoma Associate 1651583, 17917309, 19344074, 25942479, 27220856, 30093687, 31319379, 33584540, 34061962, 35521707, 35634489, 36791678
ACTH Secreting Pituitary Adenoma Stimulate 33071973
ACTH Syndrome Ectopic Associate 11075732, 26700559, 30918166, 37045779, 8254033, 8636444
Addison Disease Associate 16937455, 23064477, 26223677, 33152017, 9758716
Addison Disease Stimulate 31289154, 37277771