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Aliases for POMC Gene

Aliases for POMC Gene

  • Proopiomelanocortin 2 3
  • 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
  • Pro-Opiomelanocortin 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 polypeptide hormone precursor 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 polypeptide precursor 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, Nov 2014]

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 monogenic non-syndromic obesity, autosomal recessive. Among its related pathways are Signaling by GPCR and Signaling by GPCR. 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). Endogenous antagonists include agouti and agouti-related protein (AgRP). The melanocortin receptors are G-protein-coupled and 5 subtypes exist, MC1-5. The melanocortins are involved in a wide range of physiological functions, including pigmentation, energy homeostasis, inflammation, immunomodulation, steroidogenesis and temperature control.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for POMC Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Thr71 and Asn91
  • Modification sites at PhosphoSitePlus

Other Protein References for POMC Gene

Antibody Products

Assay Products

  • Enzo Life Sciences assays for POMC
  • antibodies-online kits for POMC

No data available for DME Specific Peptides for POMC Gene

Domains for POMC Gene

Gene Families for POMC Gene

HGNC:

Suggested Antigen Peptide Sequences for POMC Gene

Graphical View of Domain Structure for InterPro Entry

P01189

UniProtKB/Swiss-Prot:

COLI_HUMAN :
  • P01189
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:0001664 G-protein coupled receptor binding IDA 19452503
GO:0005102 receptor binding IMP 9620771
GO:0005179 hormone activity ISS --
GO:0031781 type 3 melanocortin receptor binding IPI 19743876
GO:0031782 type 4 melanocortin receptor binding IPI 19743876
genes like me logo Genes that share ontologies with POMC: view
genes like me logo Genes that share phenotypes with POMC: view

Animal Models for POMC Gene

MGI Knock Outs for POMC:

Animal Model Products

CRISPR Products

miRNA for POMC Gene

miRTarBase miRNAs that target POMC

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POMC

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
plasma membrane 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
golgi apparatus 2
endosome 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for POMC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 9620771
GO:0005737 cytoplasm ISS --
GO:0005777 NOT peroxisome IDA 20810565
GO:0005782 peroxisomal matrix IDA 20810565
genes like me logo Genes that share ontologies with POMC: view

Pathways for POMC Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0007218 neuropeptide signaling pathway IEA --
GO:0007267 cell-cell signaling IMP 9620771
GO:0008217 regulation of blood pressure ISS --
genes like me logo Genes that share ontologies with POMC: view

Compounds for POMC Gene

(5) Tocris Compounds for POMC Gene

Compound Action Cas Number
[Nle4,D-Phe7]-alpha-MSH Melanocortin receptor agonist [75921-69-6]
[D-Trp8]-gamma-MSH Selective MC3 receptor agonist [321351-81-9]
ACTH (1-39) Potent endogenous MC2 agonist [12279-41-3]
BMS 470539 dihydrochloride Potent, selective MC1 receptor agonist [457893-92-4]
MCL 0020 Selective MC4 receptor antagonist [475498-26-1]

(2) HMDB Compounds for POMC Gene

Compound Synonyms Cas Number PubMed IDs
Cortisol
  • 11-Hydrocortisone
50-23-7
Loperamide
  • Apo-Loperamide
53179-11-6

(3) Drugbank Compounds for POMC Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Dihydromorphine
509-60-4 target agonist
Etorphine
  • 19-Propylorvinol
14521-96-1 target
Loperamide
53179-11-6 target modulator

(133) Novoseek inferred chemical compound relationships for POMC Gene

Compound -log(P) Hits PubMed IDs
acth 97.6 776
acth 1-24 84.9 28
hcrh 81.2 37
alpha msh 79.3 24
metyrapone 77.6 33
genes like me logo Genes that share compounds with POMC: view

Transcripts for POMC Gene

Unigene Clusters for POMC Gene

Proopiomelanocortin:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POMC

Primer Products

Flow Cytometry Products

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 (52.5).

Integrated Proteomics: protein expression 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 expressions with POMC: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia POMC 35
  • 98.88 (n)
  • 98.13 (a)
POMC 36
  • 98 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia POMC 36
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POMC 36
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pomc 35
  • 83.83 (n)
  • 82.98 (a)
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 MAF
rs15461 -- 25,161,030(-) CCAAA(A/G)CCCCT utr-variant-3-prime
rs934778 -- 25,166,355(-) ATCAC(C/T)GGCAG intron-variant
rs1009388 -- 25,168,232(-) TCCCC(C/G)AGGGG intron-variant
rs1042571 -- 25,161,018(-) GCTCT(C/T)CCCTG utr-variant-3-prime
rs2071343 -- 25,168,391(-) CGCCT(C/G)TGGCT intron-variant

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

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

(2) OMIM Diseases for POMC Gene (176830)

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.

(92) Novoseek inferred disease relationships for POMC Gene

Disease -log(P) Hits PubMed IDs
cushing syndrome 88.6 136
acth syndrome ectopic 86.2 55
acth deficiency 85.8 30
hypercortisolism 82.1 30
adrenal hyperplasia 77 24

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
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
  2. Molecular screening of the proopiomelanocortin (POMC) gene in Italian obese children: report of three new mutations. (PMID: 11244459) del Giudice E.M. … Perrone L. (Int. J. Obes. Relat. Metab. Disord. 2001) 3 4 23 48
  3. Association between common polymorphisms of the proopiomelanocortin gene and body fat distribution: a family study. (PMID: 16046320) Baker M. … Keavney B. (Diabetes 2005) 3 4 23 48
  4. Gene variants and binge eating as predictors of comorbidity and outcome of treatment in severe obesity. (PMID: 15585384) Potoczna N. … Horber F.F. (J. Gastrointest. Surg. 2004) 3 23 48
  5. Polymorphisms in genes regulating the HPA axis associated with empirically delineated classes of unexplained chronic fatigue. (PMID: 16610949) Smith A.K. … Rajeevan M.S. (Pharmacogenomics 2006) 3 23 48

Products for POMC Gene

Sources for POMC Gene

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