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POMC Gene

protein-coding   GIFtS: 71
GCID: GC02M025383

Proopiomelanocortin

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
proopiomelanocortin1 2     beta-MSH2
Adrenocorticotropic Hormone1 2     Beta-Melanocyte-Stimulating Hormone2
adrenocorticotropin1 2     Corticotropin-Like Intermediary Peptide2
beta-endorphin1 2     corticotropin-lipotropin2
Opiomelanocortin Prepropeptide1 2     gamma-LPH2
Alpha-Melanocyte Stimulating Hormone1     gamma-MSH2
beta-lipotropin1     Lipotropin Beta2
Beta-Melanocyte Stimulating Hormone1     Lipotropin Gamma2
ACTH2     Melanotropin Alpha2
CLIP2     Melanotropin Beta2
LPH2     Melanotropin Gamma2
MSH2     met-enkephalin2
NPP2     pro-ACTH-endorphin2
POC2     pro-opiomelanocortin2
alpha-MSH2     Proopiomelanocortin Preproprotein2
Alpha-Melanocyte-Stimulating Hormone2     Corticotropin-lipotropin3
beta-LPH2     

External Ids:    HGNC: 92011   Entrez Gene: 54432   Ensembl: ENSG000001151387   OMIM: 1768305   UniProtKB: P011893   

Export aliases for POMC gene to outside databases

Previous GC identifers: GC02M025305 GC02M025476 GC02M025358 GC02M025295 GC02M025121


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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.
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, Jul 2008)

GeneCards Summary for POMC Gene:
POMC (proopiomelanocortin) is a protein-coding gene. Diseases associated with POMC include 48,xxyy syndrome, and worster drought syndrome. GO annotations related to this gene include G-protein coupled receptor binding and receptor binding.

UniProtKB/Swiss-Prot: COLI_HUMAN, P01189
Function: ACTH stimulates the adrenal glands to release cortisol
Function: MSH (melanocyte-stimulating hormone) increases the pigmentation of skin by increasing melanin production
in melanocytes
Function: Beta-endorphin and Met-enkephalin are endogenous opiates

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 (Proopiomelanocortin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the POMC gene promoter:
         CREB   deltaCREB   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOMC promoter sequence
   Search Chromatin IP Primers for POMC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POMC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p23.3   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23

POMC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POMC gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M025383:  view genomic region     (about GC identifiers)

Start:
25,383,722 bp from pter      End:
25,391,772 bp from pter
Size:
8,051 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: COLI_HUMAN, P01189 (See protein sequence)
Recommended Name: Pro-opiomelanocortin precursor  
Size: 267 amino acids; 29424 Da
Secondary accessions: P78442 Q53T23 Q9UD39 Q9UD40

Explore the universe of human proteins at neXtProt for POMC: NX_P01189

Explore proteomics data for POMC at MOPED

Post-translational modifications: 

  • Specific enzymatic cleavages at paired basic residues yield the different active peptides1
  • O-glycosylated; reducing sugar is probably N-acetylgalactosamine1
  • Glycosylation2 at Thr71, Asn91
  • Modification sites at PhosphoSitePlus

  • See POMC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000930.1  NP_001030333.1  

    ENSEMBL proteins: 
     ENSP00000384092   ENSP00000264708   ENSP00000379170   ENSP00000387993   ENSP00000370171  
    Reactome Protein details: P01189

    POMC Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for POMC
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    OriGene Custom Protein Services for POMC
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    Novus Biologicals POMC Proteins
    Novus Biologicals POMC Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for POMC
    Cloud-Clone Corp. Proteins for POMC

    POMC Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of POMC
    Browse R&D Systems for Antibodies
    OriGene Antibodies for POMC
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    Novus Biologicals POMC Antibodies
    Abcam antibodies for POMC
    Cloud-Clone Corp. Antibodies for POMC
    ThermoFisher Antibody for POMC
    LSBio Antibodies in human, mouse, rat for POMC

    POMC Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for POMC
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for POMC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for POMC
    Cloud-Clone Corp. CLIAs for POMC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    4 InterPro protein domains:
     IPR001941 Mcortin_ACTH
     IPR013531 Mcrtin_ACTH_cent
     IPR013593 Melanocortin_N
     IPR013532 Opioid_neuropept

    Graphical View of Domain Structure for InterPro Entry P01189

    ProtoNet protein and cluster: P01189

    2 Blocks protein domains:
    IPB013532 Opiodes neuropeptide
    IPB013593 Pro-opiomelanocortin N-terminal


    UniProtKB/Swiss-Prot: COLI_HUMAN, P01189
    Similarity: Belongs to the POMC family


    POMC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COLI_HUMAN, P01189
    Function: ACTH stimulates the adrenal glands to release cortisol
    Function: MSH (melanocyte-stimulating hormone) increases the pigmentation of skin by increasing melanin production
    in melanocytes
    Function: Beta-endorphin and Met-enkephalin are endogenous opiates

         Genatlas biochemistry entry for POMC:
    proopio-melanocortin (adrenocorticotropin/ beta-lipotropin)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001664G-protein coupled receptor binding IDA19452503
    GO:0005102receptor binding IMP9620771
    GO:0005179hormone activity ISS--
    GO:0031781type 3 melanocortin receptor binding IPI19743876
    GO:0031782type 4 melanocortin receptor binding IPI19743876
         
    POMC for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for POMC:
     Decreased Wnt reporter activit  Increased cell number in G2M,   Synthetic lethal with c-Myc af 

         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Pomc) (see all 17):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  mortality/aging  nervous system  no phenotypic analysis  pigmentation 

    POMC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for POMC: Pomctm2Ute Pomctm1Low

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POMC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for POMC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POMC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POMC

    miRNA
    Products:
        
    miRTarBase miRNAs that target POMC:
    hsa-mir-335-5p (MIRT017417), hsa-mir-488-3p (MIRT005899)

    Block miRNA regulation of human, mouse, rat POMC using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate POMC:
    hsa-miR-3685 hsa-miR-488 hsa-miR-384
    SwitchGear 3'UTR luciferase reporter plasmidPOMC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for POMC
    Predesigned siRNA for gene silencing in human, mouse, rat POMC

    Gene Editing
    Products:
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    Clone
    Products:
         
    OriGene clones in human, mouse for POMC (see all 11)
    OriGene ORF clones in mouse, rat for POMC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): POMC (NM_001035256)
    Sino Biological Human cDNA Clone for POMC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POMC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POMC

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for POMC 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POMC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COLI_HUMAN, P01189: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    peroxisome5
    mitochondrion3
    nucleus3
    plasma membrane3
    cytoskeleton2
    cytosol2
    endoplasmic reticulum2
    golgi apparatus2
    endosome1
    lysosome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA9620771
    GO:0005737cytoplasm ISS--
    GO:0005777NOT peroxisome IDA--
    GO:0005782peroxisomal matrix IDA--

    POMC for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for POMC About   (see all 20)  
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    Peptide ligand-binding receptors0.60
    GPCR ligand binding0.71
    G alpha (i) signalling events0.44
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Endogenous sterols0.00
    Phase 1 - Functionalization of compounds0.75
    4Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D
    Glucocorticoid biosynthesis0.00
    Androgen biosynthesis0.00
    5Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POMC
        Melanocyte Development and Pigmentation
    CRHR Pathway

    1 GeneGo (Thomson Reuters) Pathway for POMC
        Development Leptin signaling via JAK/STAT and MAPK cascades

    3 BioSystems Pathways for POMC
        Corticotropin-releasing hormone
    Syndecan-3-mediated signaling events
    Glucocorticoid receptor regulatory network


    Selected Reactome Pathways for POMC (see all 9)
        Peptide ligand-binding receptors
    Peptide hormone biosynthesis
    Androgen biosynthesis
    Opioid Signalling
    Endogenous sterols

    1 PharmGKB Pathway for POMC
        Glucocorticoid Pathway (HPA Axis), Pharmacodynamics

    2 Kegg Pathways  (Kegg details for POMC):
        Melanogenesis
    Adipocytokine signaling pathway


    POMC for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including POMC: 
              Obesity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for POMC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for POMC (P011893 ENSP000002647084) via UniProtKB, MINT, STRING, and/or I2D (see all 224)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000196101P794833, ENSP000003025174I2D: score=3 STRING: ENSP00000302517
    HLA-DRB3P794833I2D: score=3 
    MC4RP322453, ENSP000002997664I2D: score=2 STRING: ENSP00000299766
    FGF10O155203, ENSP000002646644I2D: score=1 STRING: ENSP00000264664
    MC3RP419683, ENSP000002439114I2D: score=1 STRING: ENSP00000243911
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006091generation of precursor metabolites and energy IMP9620771
    GO:0007165signal transduction IMP9620771
    GO:0007218neuropeptide signaling pathway IEA--
    GO:0007267cell-cell signaling IMP9620771
    GO:0008217regulation of blood pressure ISS--

    POMC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for POMC available from Tocris Bioscience    About this table
    CompoundAction CAS #
    [D-Trp8]-gamma-MSHSelective MC3 receptor agonist[321351-81-9]
    PG 106Selective MC3 receptor antagonist[944111-22-2]
    alpha-MSHEndogenous melanocortin receptor agonist[581-05-5]
    SHU 9119 MC3 and MC4 antagonist, MC5 partial agonist [168482-23-3]
    HS 014Selective MC4 receptor antagonist[207678-81-7]

    2 HMDB Compounds for POMC    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cortisol11-Hydrocortisone (see all 173)50-23-7--
    LoperamideApo-Loperamide (see all 10)53179-11-6--

    3 DrugBank Compounds for POMC    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Etorphine19-Propylorvinol (see all 7)14521-96-1target--6132412 1318989 1328609 2987913 6259293
    Loperamide-- 53179-11-6targetmodulator1322429 2832297 2855105 2545766 11474216
    Dihydromorphine-- 509-60-4targetagonist6292632 29252

    Selected Novoseek inferred chemical compound relationships for POMC gene (see all 133)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acth 97.6 6564 8243265 (15), 14503983 (12), 12895658 (12), 7883819 (11) (see all 99)
    acth 1-24 84.9 32 15834216 (3), 8520591 (2), 10523009 (2), 7985093 (2) (see all 23)
    hcrh 81.2 51 1658546 (6), 9253314 (5), 8200939 (5), 9430449 (3) (see all 13)
    alpha msh 79.3 32 12439754 (5), 19389708 (2), 11068094 (2), 10902813 (2) (see all 16)
    metyrapone 77.6 42 10094119 (4), 1966779 (4), 12510010 (2), 2155255 (1) (see all 26)
    17-hydroxyprogesterone 75.9 49 8237247 (2), 8257919 (2), 7892885 (2), 9545098 (2) (see all 34)
    dexamethasone 75.8 278 15644480 (5), 15834216 (5), 9574835 (4), 8138828 (4) (see all 99)
    dehydroepiandrosterone sulfate 72.4 86 12534357 (4), 1323210 (3), 11912073 (2), 17724006 (2) (see all 35)
    hydrocortisone 70.8 31 18184957 (4), 19473175 (3), 1652926 (2), 15679075 (1) (see all 18)
    n-acetyl-beta-endorphin 70.3 6 9761384 (2), 15145917 (1), 16428944 (1), 16289330 (1)



    POMC for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for POMC gene (2 alternative transcripts): 
    NM_000939.2  NM_001035256.1  

    Unigene Cluster for POMC:

    Proopiomelanocortin
    Hs.1897  [show with all ESTs]
    Unigene Representative Sequence: CD518878
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000405623 ENST00000264708 ENST00000395826 ENST00000449220 ENST00000380794(uc002rfy.1 uc002rfz.1 uc002rga.1)

    miRNA
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    Block miRNA regulation of human, mouse, rat POMC using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate POMC:
    hsa-miR-3685 hsa-miR-488 hsa-miR-384
    SwitchGear 3'UTR luciferase reporter plasmidPOMC 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for POMC
    Predesigned siRNA for gene silencing in human, mouse, rat POMC
    Clone
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    OriGene ORF clones in mouse, rat for POMC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): POMC (NM_001035256)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POMC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POMC
    Primer
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    OriGene qPCR primer pairs and template standards for POMC
    OriGene qSTAR qPCR primer pairs in human, mouse for POMC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POMC
      QuantiTect SYBR Green Assays in human, mouse, rat POMC
      QuantiFast Probe-based Assays in human, mouse, rat POMC

    Additional mRNA sequence: 

    BC065832.1 BT019918.1 CR541826.1 DQ884404.1 M28636.1 M38297.1 S76492.1 

    6 DOTS entries:

    DT.313735  DT.97834889  DT.100891694  DT.102824742  DT.100891692  DT.120999527 

    Selected AceView cDNA sequences (see all 413):

    CD107887 CD105365 CD557062 AA371895 CD518913 CD243318 CD109231 CD105915 
    CD251086 CD107328 CD242500 CD108235 CD251155 CD108859 CD243089 CD108835 
    CD107394 CD108352 CD107931 CD107950 CD108966 CD108949 CD108284 CD108871 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for POMC    About this scheme

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


    ECgene alternative splicing isoforms for POMC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    POMC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    POMC Expression
    About this image


    POMC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Thalamus
             Ventral/hypothalamic-like neurons
             Septum   
     
     Neurons
             Cholinergic Amacrine Cells Inner Nuclear Layer
             Ventral/hypothalamic-like neurons
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
     
     Eye (Sensory Organs)
             Cholinergic Amacrine Cells Inner Nuclear Layer
    POMC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POMC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1897

    UniProtKB/Swiss-Prot: COLI_HUMAN, P01189
    Tissue specificity: ACTH and MSH are produced by the pituitary gland

        Pathway & Disease-focused RT2 Profiler PCR Array including POMC: 
              Obesity in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for POMC gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pomc1 , 5 pro-opiomelanocortin-alpha1, 5 82.7(n)1
    81.7(a)1
      12 (1.99 cM)5
    189761  NM_001278583.11  NP_001265512.11 
     39549515 
    chicken
    (Gallus gallus)
    Aves POMC1 proopiomelanocortin 67.99(n)
    59.03(a)
      422011  NM_001031098.1  NP_001026269.1 
    lizard
    (Anolis carolinensis)
    Reptilia POMC6
    proopiomelanocortin
    47(a)
    1 ↔ 1
    GL343547.1(330729-341997)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC054160.12   -- 75.65(n)    BC054160.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pomc2 proopiomelanocortin 74.21(n)   353221  AY135148.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for POMC gene
    1 SIMAP similar gene for POMC using alignment to 19 protein entries:     COLI_HUMAN (see all proteins):
    proopiomelanocortin/ POMC

    POMC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for POMC (see all 217)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289324721,2,,4
    C,Fother125303332(-) ACAAGC/GGCTAC 4 R G mis19Minor allele frequency- G:0.00NA EU CSAM EA NS 6821
    rs1922045581,2
    --25302509(+) AAGATG/TATGTC 2 -- ds50010--------
    rs1842732651,2
    --25302561(+) AGGGAC/GGGGTA 2 -- ds50010--------
    rs1894717261,2
    --25302587(+) TTTTGC/GAGAAG 2 -- ds50010--------
    rs81926071,2
    C,F--25302916(-) TGCCCC/GCACCC 2 -- ds50011Minor allele frequency- G:0.02NA 120
    rs356391161,2
    C,F--25302948(-) ACTTAG/CTGAGC 2 -- ds50015Minor allele frequency- C:0.00NA EU CSAM EA 380
    rs1823853881,2
    --25303130(+) TTATCC/TGCCAC 2 -- ut310--------
    rs116795311,2
    C,F,H--25303164(+) AGCAGG/AGCAGG 2 -- ut311Minor allele frequency- A:0.50NA 4
    rs10425711,2
    C,F--25303171(-) GCTCTC/TCCCTG 2 -- ut31 ese317Minor allele frequency- T:0.19MN NA EU CSAM EA NS WA 2722
    rs154611,2
    C--25303183(-) CCAAAG/ACCCCT 2 -- ut31 ese36Minor allele frequency- A:0.00MN 588

    HapMap Linkage Disequilibrium report for POMC (25383722 - 25391772 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for POMC:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33372CNV Loss17666407
    dgv57n68CNV Loss17160897

    Human Gene Mutation Database (HGMD): POMC
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing POMC
    DNA2.0 Custom Variant and Variant Library Synthesis for POMC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 176830   
    OMIM disorders: 609734  601665  
    UniProtKB/Swiss-Prot: COLI_HUMAN, P01189
  • 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.
    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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • Selected diseases for POMC (see all 272):    
    About MalaCards
    48,xxyy syndrome    worster drought syndrome    chilaiditi syndrome    obesity, adrenal insufficiency, and red hair due to pomc deficiency
    startle epilepsy    obesity, early-onset    monogenic non-syndromic obesity, autosomal recessive    proopiomelanocortin deficiency
    pituitary-dependent cushing's disease    autoimmune polyglandular syndrome type 3    late-onset congenital adrenal hyperplasia    trichinosis
    adjustment disorder    sheehan syndrome    sick building syndrome    hypoadrenalism
    aromatase excess syndrome    empty sella syndrome    nelson syndrome    myofascial pain syndrome

    Selected diseases from the University of Copenhagen DISEASES database for POMC (see all 53):
    Cushing's syndrome     Adenoma     Nelson syndrome     Pituitary adenoma
    Hypopituitarism     Pain agnosia     Addison's disease     Hypoglycemia
    pituitary-dependent Cushing's disease     Kidney failure     Hypertension     Conn's syndrome
    Hypokalemia     Hyperaldosteronism     Diabetes insipidus     Amenorrhea
    Hyperandrogenism     Hyperprolactinemia     Polycystic ovary syndrome     triple-A syndrome

    POMC for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for POMC gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cushing syndrome 88.6 180 12917066 (5), 14971736 (4), 12381548 (3), 18509277 (3) (see all 99)
    acth syndrome ectopic 86.2 79 8254033 (4), 7958079 (3), 15845926 (3), 8954027 (3) (see all 38)
    acth deficiency 85.8 47 19367057 (3), 11446676 (3), 8222301 (2), 1332472 (2) (see all 20)
    hypercortisolism 82.1 38 8998816 (3), 8965262 (2), 9811437 (2), 16378774 (2) (see all 25)
    adrenal hyperplasia 77 29 9605918 (3), 1653782 (1), 12466375 (1), 12843140 (1) (see all 22)
    pituitary adenoma 76.5 64 8704030 (3), 7958079 (2), 9876339 (2), 8254033 (2) (see all 40)
    pituitary-dependent cushings disease 76.3 9 8237244 (2), 15817922 (1), 8616526 (1), 7891545 (1)
    acth resistance 75.8 19 17161331 (4), 9758716 (2), 18493136 (1), 9768670 (1) (see all 8)
    pituitary tumors 72 43 14971736 (2), 9768675 (1), 10195696 (1), 1591282 (1) (see all 26)
    hypercortisolemia 70.1 5 1653782 (1), 12450312 (1), 19535893 (1), 13678742 (1)

    Genatlas disease: POMC
    early-onset obesity,adrenal insufficiency and red hair pigmentation

    Genetic Association Database (GAD): POMC
    Human Genome Epidemiology (HuGE) Navigator: POMC (103 documents)

    Export disorders for POMC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for POMC gene, integrated from 10 sources (see all 2080):
    (articles sorted by number of sources associating them with POMC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. (PubMed id 9620771)1, 2, 3, 9 Krude H.... Grueters A. (Nat. Genet. 1998)
    2. Molecular screening of the proopiomelanocortin (POMC) gene in Italian obese children: report of three new mutations. (PubMed id 11244459)1, 2, 4, 9 del Giudice E.M.... Perrone L. (Int. J. Obes. Relat. Metab. Disord. 2001)
    3. Association between common polymorphisms of the proopiomelanocortin gene and body fat distribution: a family study. (PubMed id 16046320)1, 2, 4, 9 Baker M.... Keavney B. (Diabetes 2005)
    4. Structural organization of human genomic DNA encoding the pro- opiomelanocortin peptide. (PubMed id 6254047)1, 2, 3 Chang A.C.Y.... Cohen S.N. (Proc. Natl. Acad. Sci. U.S.A. 1980)
    5. Linkage and association studies between the proopiomelanocortin (POMC) gene and obesity in caucasian families. (PubMed id 11151766)1, 4, 9 Delplanque J....Froguel P. (Diabetologia 2000)
    6. Systematic mutation screening of the pro-opiomelanocortin gene: identification of several genetic variants including three different insertions, one nonsense and two missense point mutations in probands of different weight extremes. (PubMed id 9768693)1, 2, 9 Hinney A.... Hebebrand J. (J. Clin. Endocrinol. Metab. 1998)
    7. Six novel mutations in the proopiomelanocortin and melanocortin receptor 4 genes in severely obese adults living in southern Italy. (PubMed id 15951321)1, 4, 9 Buono P....Sacchetti L. (Clin. Chem. 2005)
    8. Association between variants in the genes for leptin, leptin receptor, and proopiomelanocortin with chronic heart failure in the Czech population. (PubMed id 19337797)1, 4, 9 BienertovA!-VaskA^ J.A....VaskA^ A. (Heart Vessels 2009)
    9. The opioid system in alcohol and drug dependence: family-based association study. (PubMed id 17503481)1, 4, 9 Xuei X....Edenberg H.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)
    10. Mutational analysis of the proopiomelanocortin gene in Caucasians with early onset obesity. (PubMed id 10193875)1, 2, 9 Echwald S.M.... Pedersen O. (Int. J. Obes. Relat. Metab. Disord. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5443 HGNC: 9201 AceView: POMC Ensembl:ENSG00000115138 euGenes: HUgn5443
    ECgene: POMC Kegg: 5443 H-InvDB: POMC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for POMC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for POMC Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Melanocyte-stimulating_hormone

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for POMC gene:
    Search GeneIP for patents involving POMC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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