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POMC (proopiomelanocortin)

Identity

Other namesACTH
CLIP
LPH
MSH
NPP
POC
HGNC (Hugo) POMC
LocusID (NCBI) 5443
Atlas_Id 53308
Location 2p23.3
Location_base_pair Starts at 25383722 and ends at 25391720 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
POMC (2p23.3) / RPL14 (3p22.1)POMC (2p23.3) / STK16 (2q35)

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
AliasesACTH; CLIP; LPH; MSH; 
NPP; POC
GeneCards (Weizmann)POMC
Ensembl hg19 (Hinxton)ENSG00000115138 [Gene_View]  chr2:25383722-25391720 [Contig_View]  POMC [Vega]
Ensembl hg38 (Hinxton)ENSG00000115138 [Gene_View]  chr2:25383722-25391720 [Contig_View]  POMC [Vega]
ICGC DataPortalENSG00000115138
TCGA cBioPortalPOMC
AceView (NCBI)POMC
Genatlas (Paris)POMC
WikiGenes5443
SOURCE (Princeton)POMC
Genomic and cartography
GoldenPath hg19 (UCSC)POMC  -     chr2:25383722-25391720 -  2p23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)POMC  -     2p23.3   [Description]    (hg38-Dec_2013)
EnsemblPOMC - 2p23.3 [CytoView hg19]  POMC - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBIPOMC [Mapview hg19]  POMC [Mapview hg38]
OMIM176830   601665   609734   
Gene and transcription
Genbank (Entrez)AI341269 AW951218 BC065832 BT019918 CB988233
RefSeq transcript (Entrez)NM_000939 NM_001035256 NM_001319204 NM_001319205
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_008997 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)POMC
Cluster EST : UnigeneHs.1897 [ NCBI ]
CGAP (NCI)Hs.1897
Alternative Splicing GalleryENSG00000115138
Gene ExpressionPOMC [ NCBI-GEO ]   POMC [ EBI - ARRAY_EXPRESS ]   POMC [ SEEK ]   POMC [ MEM ]
Gene Expression Viewer (FireBrowse)POMC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5443
GTEX Portal (Tissue expression)POMC
Protein : pattern, domain, 3D structure
UniProt/SwissProtP01189 (Uniprot)
NextProtP01189  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP01189
Splice isoforms : SwissVarP01189 (Swissvar)
PhosPhoSitePlusP01189
Domains : Interpro (EBI)Mcortin_ACTH    Mcrtin_ACTH_cent    Melanocortin_N    Opioid_neuropept   
Domain families : Pfam (Sanger)ACTH_domain (PF00976)    NPP (PF08384)    Op_neuropeptide (PF08035)   
Domain families : Pfam (NCBI)pfam00976    pfam08384    pfam08035   
DMDM Disease mutations5443
Blocks (Seattle)POMC
SuperfamilyP01189
Human Protein AtlasENSG00000115138
Peptide AtlasP01189
HPRD01462
IPIIPI00000160   IPI00816161   IPI00892848   
Protein Interaction databases
DIP (DOE-UCLA)P01189
IntAct (EBI)P01189
FunCoupENSG00000115138
BioGRIDPOMC
STRING (EMBL)POMC
ZODIACPOMC
Ontologies - Pathways
QuickGOP01189
Ontology : AmiGOG-protein coupled receptor binding  receptor binding  hormone activity  hormone activity  neuropeptide 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  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  glucose homeostasis  positive regulation of transcription from RNA polymerase II promoter  regulation of glycogen metabolic process  type 1 melanocortin receptor binding  type 1 melanocortin receptor binding  regulation of corticosterone secretion  
Ontology : EGO-EBIG-protein coupled receptor binding  receptor binding  hormone activity  hormone activity  neuropeptide 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  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  glucose homeostasis  positive regulation of transcription from RNA polymerase II promoter  regulation of glycogen metabolic process  type 1 melanocortin receptor binding  type 1 melanocortin receptor binding  regulation of corticosterone secretion  
Pathways : KEGGMelanogenesis    Adipocytokine signaling pathway   
NDEx Network
Atlas of Cancer Signalling NetworkPOMC
Wikipedia pathwaysPOMC
Orthology - Evolution
OrthoDB5443
GeneTree (enSembl)ENSG00000115138
Phylogenetic Trees/Animal Genes : TreeFamPOMC
Homologs : HomoloGenePOMC
Homology/Alignments : Family Browser (UCSC)POMC
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPOMC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POMC
dbVarPOMC
ClinVarPOMC
1000_GenomesPOMC 
Exome Variant ServerPOMC
ExAC (Exome Aggregation Consortium)POMC (select the gene name)
Genetic variants : HAPMAP5443
Genomic Variants (DGV)POMC [DGVbeta]
Mutations
ICGC Data PortalPOMC 
TCGA Data PortalPOMC 
Broad Tumor PortalPOMC
OASIS PortalPOMC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOMC 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch POMC
DgiDB (Drug Gene Interaction Database)POMC
DoCM (Curated mutations)POMC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POMC (select a term)
intoGenPOMC
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:25383722-25391720  ENSG00000115138
CONAN: Copy Number AnalysisPOMC 
Mutations and Diseases : HGMDPOMC
OMIM176830    601665    609734   
MedgenPOMC
Genetic Testing Registry POMC
NextProtP01189 [Medical]
TSGene5443
GENETestsPOMC
Huge Navigator POMC [HugePedia]
snp3D : Map Gene to Disease5443
BioCentury BCIQPOMC
ClinGenPOMC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5443
Chemical/Pharm GKB GenePA33526
Clinical trialPOMC
Miscellaneous
canSAR (ICR)POMC (select the gene name)
Probes
Litterature
PubMed264 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOMC
EVEXPOMC
GoPubMedPOMC
iHOPPOMC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:16:30 CEST 2016

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