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Aliases for POMC Gene

Aliases for POMC Gene

  • Proopiomelanocortin 2 3 5
  • Opiomelanocortin Prepropeptide 2 3
  • Adrenocorticotropic Hormone 2 3
  • Corticotropin-Lipotropin 3 4
  • Adrenocorticotropin 2 3
  • Beta-Endorphin 2 3
  • Corticotropin-Like Intermediary Peptide 3
  • Alpha-Melanocyte Stimulating Hormone 2
  • Alpha-Melanocyte-Stimulating Hormone 3
  • Beta-Melanocyte Stimulating Hormone 2
  • Beta-Melanocyte-Stimulating Hormone 3
  • Proopiomelanocortin Preproprotein 3
  • Melanotropin Alpha 3
  • Melanotropin Gamma 3
  • Pro-ACTH-Endorphin 3
  • Melanotropin Beta 3
  • Lipotropin Gamma 3
  • Beta-Lipotropin 2
  • Lipotropin Beta 3
  • Met-Enkephalin 3
  • Alpha-MSH 3
  • Gamma-LPH 3
  • Gamma-MSH 3
  • Beta-LPH 3
  • Beta-MSH 3
  • CLIP 3
  • ACTH 3
  • LPH 3
  • MSH 3
  • NPP 3
  • POC 3

External Ids for POMC Gene

Previous GeneCards Identifiers for POMC Gene

  • GC02M025305
  • GC02M025476
  • GC02M025358
  • GC02M025295
  • GC02M025383
  • GC02M025121

Summaries for POMC Gene

Entrez Gene Summary for POMC 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, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016]

GeneCards Summary for POMC Gene

POMC (Proopiomelanocortin) is a Protein Coding gene. Diseases associated with POMC include obesity, adrenal insufficiency, and red hair due to pomc deficiency and obesity. Among its related pathways are Adipocytokine signaling pathway and Basal cell carcinoma. GO annotations related to this gene include receptor binding and G-protein coupled receptor binding.

UniProtKB/Swiss-Prot for POMC Gene

  • ACTH stimulates the adrenal glands to release cortisol.

  • MSH (melanocyte-stimulating hormone) increases the pigmentation of skin by increasing melanin production in melanocytes.

  • Beta-endorphin and Met-enkephalin are endogenous opiates.

Tocris Summary for POMC Gene

  • Melanocortin receptors are activated by members of the melanocortin family: alpha-, beta- and gamma-melanocyte stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH). The melanocortins are involved in a range of physiological functions, including pigmentation and inflammation.

Gene Wiki entry for POMC Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POMC Gene

Genomics for POMC Gene

Regulatory Elements for POMC Gene

Enhancers for POMC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around POMC on UCSC Golden Path with GeneCards custom track

Genomic Location for POMC Gene

Chromosome:
2
Start:
25,160,853 bp from pter
End:
25,168,903 bp from pter
Size:
8,051 bases
Orientation:
Minus strand

Genomic View for POMC Gene

Genes around POMC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POMC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POMC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POMC Gene

Proteins for POMC Gene

  • Protein details for POMC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01189-COLI_HUMAN
    Recommended name:
    Pro-opiomelanocortin
    Protein Accession:
    P01189
    Secondary Accessions:
    • P78442
    • Q53T23
    • Q9UD39
    • Q9UD40

    Protein attributes for POMC Gene

    Size:
    267 amino acids
    Molecular mass:
    29424 Da
    Quaternary structure:
    No Data Available

neXtProt entry for POMC Gene

Proteomics data for POMC Gene at MOPED

Post-translational modifications for POMC Gene

  • O-glycosylated; reducing sugar is probably N-acetylgalactosamine.
  • Specific enzymatic cleavages at paired basic residues yield the different active peptides.
  • Glycosylation at Thr 71 and Asn 91
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for POMC Gene

Domains & Families for POMC Gene

Gene Families for POMC Gene

Suggested Antigen Peptide Sequences for POMC Gene

Graphical View of Domain Structure for InterPro Entry

P01189

UniProtKB/Swiss-Prot:

COLI_HUMAN :
  • Belongs to the POMC family.
Family:
  • Belongs to the POMC family.
genes like me logo Genes that share domains with POMC: view

Function for POMC Gene

Molecular function for POMC Gene

GENATLAS Biochemistry:
proopio-melanocortin (adrenocorticotropin/ beta-lipotropin)
UniProtKB/Swiss-Prot Function:
ACTH stimulates the adrenal glands to release cortisol.
UniProtKB/Swiss-Prot Function:
MSH (melanocyte-stimulating hormone) increases the pigmentation of skin by increasing melanin production in melanocytes.
UniProtKB/Swiss-Prot Function:
Beta-endorphin and Met-enkephalin are endogenous opiates.

Gene Ontology (GO) - Molecular Function for POMC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IMP 9620771
genes like me logo Genes that share ontologies with POMC: view
genes like me logo Genes that share phenotypes with POMC: view

Human Phenotype Ontology for POMC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POMC Gene

MGI Knock Outs for POMC:

Animal Model Products

miRNA for POMC Gene

miRTarBase miRNAs that target POMC

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for POMC Gene

Localization for POMC Gene

Subcellular locations from UniProtKB/Swiss-Prot for POMC Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POMC Gene COMPARTMENTS Subcellular localization image for POMC gene
Compartment Confidence
extracellular 5
peroxisome 5
mitochondrion 3
nucleus 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
golgi apparatus 2
lysosome 2
plasma membrane 2
vacuole 2
endosome 1

Gene Ontology (GO) - Cellular Components for POMC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005782 peroxisomal matrix IDA 20810565
genes like me logo Genes that share ontologies with POMC: view

Pathways & Interactions for POMC Gene

genes like me logo Genes that share pathways with POMC: view

SIGNOR curated interactions for POMC Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for POMC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy IMP 9620771
GO:0007165 signal transduction IMP 9620771
GO:0016486 peptide hormone processing TAS --
GO:0032098 regulation of appetite IMP 9620771
GO:0032720 negative regulation of tumor necrosis factor production IDA 10233018
genes like me logo Genes that share ontologies with POMC: view

Drugs & Compounds for POMC Gene

(95) Drugs for POMC Gene - From: DrugBank, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Loperamide Approved Pharma Target, modulator 134
dihydromorphine Experimental, Illicit Pharma Full agonist, Agonist, Target, agonist 0
Etorphine Illicit Pharma Full agonist, Agonist, Target 0
alpha-MSH Pharma Full agonist, Agonist Endogenous melanocortin receptor agonist 14
THIQ Pharma Full agonist, Agonist Potent and selective MC4 receptor agonist 0

(46) Additional Compounds for POMC Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[Nle4,D-Phe7]-alpha-MSH
75921-69-6
gamma1-MSH
72629-65-3
Melanotan II
121062-08-6

(5) Tocris Compounds for POMC Gene

Compound Action Cas Number
[Nle4,D-Phe7]-alpha-MSH Melanocortin receptor agonist 75921-69-6
alpha-MSH Endogenous melanocortin receptor agonist 581-05-5
gamma1-MSH Selective MC3 receptor agonist 72629-65-3
Melanotan II High affinity melanocortin receptor agonist 121062-08-6
THIQ Potent and selective MC4 receptor agonist 312637-48-2
genes like me logo Genes that share compounds with POMC: view

Transcripts for POMC Gene

Unigene Clusters for POMC Gene

Proopiomelanocortin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POMC Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4
SP1:
SP2: -
SP3: - -
SP4: -

Relevant External Links for POMC Gene

GeneLoc Exon Structure for
POMC
ECgene alternative splicing isoforms for
POMC

Expression for POMC Gene

mRNA expression in normal human tissues for POMC Gene

mRNA differential expression in normal tissues according to GTEx for POMC Gene

This gene is overexpressed in Pituitary (x52.5).

Protein differential expression in normal tissues from HIPED for POMC Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for POMC Gene



SOURCE GeneReport for Unigene cluster for POMC Gene Hs.1897

mRNA Expression by UniProt/SwissProt for POMC Gene

P01189-COLI_HUMAN
Tissue specificity: ACTH and MSH are produced by the pituitary gland.
genes like me logo Genes that share expression patterns with POMC: view

Protein tissue co-expression partners for POMC Gene

Primer Products

Orthologs for POMC Gene

This gene was present in the common ancestor of chordates.

Orthologs for POMC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia POMC 35
  • 86.56 (n)
  • 84.11 (a)
POMC 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POMC 35
  • 87.15 (n)
  • 80.84 (a)
POMC 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pomc 35
  • 82.7 (n)
  • 81.7 (a)
Pomc 16
Pomc 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POMC 35
  • 98.88 (n)
  • 98.13 (a)
POMC 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pomc 35
  • 83.83 (n)
  • 82.98 (a)
oppossum
(Monodelphis domestica)
Mammalia POMC 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POMC 36
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves POMC 35
  • 67.99 (n)
  • 59.03 (a)
POMC 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POMC 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pomc 35
  • 63.4 (n)
  • 60.85 (a)
zebrafish
(Danio rerio)
Actinopterygii pomc 35
pomca 35
  • 60 (n)
  • 53.33 (a)
pomca 36
  • 45 (a)
OneToMany
pomcb 36
  • 35 (a)
OneToMany
Species with no ortholog for POMC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POMC Gene

ENSEMBL:
Gene Tree for POMC (if available)
TreeFam:
Gene Tree for POMC (if available)

Paralogs for POMC Gene

genes like me logo Genes that share paralogs with POMC: view

No data available for Paralogs for POMC Gene

Variants for POMC Gene

Sequence variations from dbSNP and Humsavar for POMC Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_010699 -
rs139750421 - 25,164,747(+) CCCCC(A/G)AGCGG reference, missense
rs28932472 - 25,161,179(-) ACAAG(C/G)GCTAC reference, missense
VAR_010715 -
rs80326661 - 25,161,244(-) GGCCG(A/G)GAAGA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for POMC Gene

Variant ID Type Subtype PubMed ID
dgv57n68 CNV Loss 17160897
esv33372 CNV Loss 17666407

Variation tolerance for POMC Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.53; 72.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POMC Gene

HapMap Linkage Disequilibrium report
POMC
Human Gene Mutation Database (HGMD)
POMC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POMC Gene

Disorders for POMC Gene

MalaCards: The human disease database

(193) MalaCards diseases for POMC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
obesity, adrenal insufficiency, and red hair due to pomc deficiency
  • proopiomelanocortin deficiency
obesity
  • obesity, association with
monogenic non-syndromic obesity, autosomal recessive
cushing's syndrome
  • cushing syndrome
adrenal adenoma
  • adrenal cortical adenoma
- elite association - COSMIC cancer census association via MalaCards
Search POMC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COLI_HUMAN
  • Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269 PubMed:12165561}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
  • Pro-opiomelanocortinin deficiency (POMCD) [MIM:609734]: Affected individuals present early-onset obesity, adrenal insufficiency and red hair. {ECO:0000269 PubMed:9620771}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for POMC Gene

early-onset obesity,adrenal insufficiency and red hair pigmentation

Relevant External Links for POMC

Genetic Association Database (GAD)
POMC
Human Genome Epidemiology (HuGE) Navigator
POMC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POMC
genes like me logo Genes that share disorders with POMC: view

Publications for POMC Gene

  1. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. (PMID: 9620771) Krude H. … Grueters A. (Nat. Genet. 1998) 2 3 4 23 67
  2. Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways. (PMID: 18992263) Slattery M.L. … Samowitz W.S. (Mutat. Res. 2009) 3 23
  3. Hormone and glucose signalling in POMC and AgRP neurons. (PMID: 19770186) Belgardt B.F. … BrA1ning J.C. (J. Physiol. (Lond.) 2009) 3 23
  4. The melanocortin system in articular chondrocytes: melanocortin receptors, pro-opiomelanocortin, precursor proteases, and a regulatory effect of alpha-melanocyte-stimulating hormone on proinflammatory cytokines and extracellular matrix components. (PMID: 19790046) GrAossel S. … BAPhm M. (Arthritis Rheum. 2009) 3 23
  5. Mutational analysis of the pro-opiomelanocortin gene in French obese children led to the identification of a novel deleterious heterozygous mutation located in the alpha-melanocyte stimulating hormone domain. (PMID: 18091355) Dubern B. … Clement K. (Pediatr. Res. 2008) 3 23

Products for POMC Gene

Sources for POMC Gene

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