Atlas of Genetics and Cytogenetics in Oncology and Haematology


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POMC (proopiomelanocortin)

Identity

Other namesACTH
CLIP
LPH
MSH
NPP
POC
HGNC (Hugo) POMC
LocusID (NCBI) 5443
Location 2p23.3
Location_base_pair Starts at 25383722 and ends at 25391559 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)POMC   9201
Cards
Entrez_Gene (NCBI)POMC  5443  proopiomelanocortin
GeneCards (Weizmann)POMC
Ensembl (Hinxton)ENSG00000115138 [Gene_View]  chr2:25383722-25391559 [Contig_View]  POMC [Vega]
ICGC DataPortalENSG00000115138
cBioPortalPOMC
AceView (NCBI)POMC
Genatlas (Paris)POMC
WikiGenes5443
SOURCE (Princeton)NM_000939 NM_001035256
Genomic and cartography
GoldenPath (UCSC)POMC  -  2p23.3   chr2:25383722-25391559 -  2p23.3   [Description]    (hg19-Feb_2009)
EnsemblPOMC - 2p23.3 [CytoView]
Mapping of homologs : NCBIPOMC [Mapview]
OMIM176830   601665   609734   
Gene and transcription
Genbank (Entrez)AI341269 AW951218 BC065832 BT019918 CB988233
RefSeq transcript (Entrez)NM_000939 NM_001035256
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_008997 NT_022184 NW_001838768 NW_004929300
Consensus coding sequences : CCDS (NCBI)POMC
Cluster EST : UnigeneHs.1897 [ NCBI ]
CGAP (NCI)Hs.1897
Alternative Splicing : Fast-db (Paris)GSHG0017483
Alternative Splicing GalleryENSG00000115138
Gene ExpressionPOMC [ NCBI-GEO ]     POMC [ SEEK ]   POMC [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01189 (Uniprot)
NextProtP01189  [Medical]
With graphics : InterProP01189
Splice isoforms : SwissVarP01189 (Swissvar)
Domains : Interpro (EBI)Mcortin_ACTH [organisation]   Mcrtin_ACTH_cent [organisation]   Melanocortin_N [organisation]   Opioid_neuropept [organisation]  
Related proteins : CluSTrP01189
Domain families : Pfam (Sanger)ACTH_domain (PF00976)    NPP (PF08384)    Op_neuropeptide (PF08035)   
Domain families : Pfam (NCBI)pfam00976    pfam08384    pfam08035   
DMDM Disease mutations5443
Blocks (Seattle)P01189
Human Protein AtlasENSG00000115138 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP01189
HPRD01462
IPIIPI00000160   IPI00816161   IPI00892848   
Protein Interaction databases
DIP (DOE-UCLA)P01189
IntAct (EBI)P01189
FunCoupENSG00000115138
BioGRIDPOMC
InParanoidP01189
Interologous Interaction database P01189
IntegromeDBPOMC
STRING (EMBL)POMC
Ontologies - Pathways
Ontology : AmiGOG-protein coupled receptor binding  receptor binding  hormone activity  hormone activity  extracellular region  extracellular space  cytoplasm  peroxisome  peroxisomal matrix  generation of precursor metabolites and energy  signal transduction  neuropeptide signaling pathway  cell-cell signaling  regulation of blood pressure  peptide hormone processing  secretory granule  type 3 melanocortin receptor binding  type 4 melanocortin receptor binding  regulation of appetite  negative regulation of tumor necrosis factor production  cellular pigmentation  secretory granule lumen  cellular protein metabolic process  positive regulation of transcription from RNA polymerase II promoter  type 1 melanocortin receptor binding  type 1 melanocortin receptor binding  
Ontology : EGO-EBIG-protein coupled receptor binding  receptor binding  hormone activity  hormone activity  extracellular region  extracellular space  cytoplasm  peroxisome  peroxisomal matrix  generation of precursor metabolites and energy  signal transduction  neuropeptide signaling pathway  cell-cell signaling  regulation of blood pressure  peptide hormone processing  secretory granule  type 3 melanocortin receptor binding  type 4 melanocortin receptor binding  regulation of appetite  negative regulation of tumor necrosis factor production  cellular pigmentation  secretory granule lumen  cellular protein metabolic process  positive regulation of transcription from RNA polymerase II promoter  type 1 melanocortin receptor binding  type 1 melanocortin receptor binding  
Pathways : KEGGMelanogenesis    Adipocytokine signaling pathway   
Protein Interaction DatabasePOMC
Wikipedia pathwaysPOMC
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)POMC
snp3D : Map Gene to Disease5443
SNP (GeneSNP Utah)POMC
SNP : HGBasePOMC
Genetic variants : HAPMAPPOMC
Exome VariantPOMC
1000_GenomesPOMC 
ICGC programENSG00000115138 
Somatic Mutations in Cancer : COSMICPOMC 
CONAN: Copy Number AnalysisPOMC 
Mutations and Diseases : HGMDPOMC
Genomic VariantsPOMC  POMC [DGVbeta]
dbVarPOMC
ClinVarPOMC
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM176830    601665    609734   
MedgenPOMC
GENETestsPOMC
Disease Genetic AssociationPOMC
Huge Navigator POMC [HugePedia]  POMC [HugeCancerGEM]
General knowledge
Homologs : HomoloGenePOMC
Homology/Alignments : Family Browser (UCSC)POMC
Phylogenetic Trees/Animal Genes : TreeFamPOMC
Chemical/Protein Interactions : CTD5443
Chemical/Pharm GKB GenePA33526
Clinical trialPOMC
Cancer Resource (Charite)ENSG00000115138
Other databases
Probes
Litterature
PubMed240 Pubmed reference(s) in Entrez
CoreMinePOMC
iHOPPOMC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 17:12:50 CEST 2014

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