POMC (proopiomelanocortin)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5443
Gene name Gene Name - the full gene name approved by the HGNC.
Proopiomelanocortin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POMC
Synonyms (NCBI Gene) Gene synonyms aliases
ACTH, CLIP, LPH, MSH, NPP, OBAIRH, POC
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs Other IDs 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.
Gene SNPs Other IDs Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT005899 hsa-miR-488-3p Luciferase reporter assay, Microarray 21168126
MIRT017417 hsa-miR-335-5p Microarray 18185580
MIRT735745 hsa-miR-383-3p Luciferase reporter assay, qRT-PCR 31847355
MIRT735746 hsa-miR-384 Luciferase reporter assay, qRT-PCR 31847355
MIRT005899 hsa-miR-488-3p Luciferase reporter assay, qRT-PCR 31847355
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs 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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
176830 9201 ENSG00000115138
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Obesity obesity due to pro-opiomelanocortin deficiency rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs1553400259, rs1573250294, rs1573254045 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Uterine Fibroids Uterine fibroids N/A N/A GWAS
Show/Hide Text Mining Associations (214)
Associations from Text Mining Disease 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