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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

POMC Gene

protein-coding GIFtS: 70
GCID: GC02M025383

proopiomelanocortin

Explore 273 diseases affiliated with
POMC via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Proopiomelanocortin¹		Corticotropin-Like Intermediary Peptide²
ACTH¹ ²		Corticotropin-Lipotropin¹
CLIP¹ ²		Gamma-LPH¹
LPH¹ ²		Gamma-MSH¹
MSH¹ ²		Lipotropin Beta²
NPP¹ ²		Lipotropin Gamma²
POC¹ ²		Melanotropin Alpha²
Adrenocorticotropic Hormone²		Melanotropin Beta²
Adrenocorticotropin¹		Melanotropin Gamma²
Alpha-MSH¹		Met-Enkephalin¹
Alpha-Melanocyte-Stimulating Hormone²		Opiomelanocortin Prepropeptide²
Beta-LPH¹		Pro-ACTH-Endorphin¹
Beta-MSH¹		Pro-Opiomelanocortin¹
Beta-Endorphin¹		Proopiomelanocortin Preproprotein²
Beta-Melanocyte-Stimulating Hormone²		Corticotropin-Lipotropin¹

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for POMC:

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)

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:

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the POMC gene promoter:
CREB deltaCREB STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: POMC promoter sequence

Search SABiosciences Chromatin IP Primers for POMC

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: COLI_HUMAN, P01189 (See protein sequence)

Recommended Name: Pro-opiomelanocortin precursor

Size: 267 amino acids; 29424 Da

Subcellular location: Secreted

Secondary accessions: P78442 Q53T23 Q9UD39 Q9UD40

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

Post-translational modifications:

Specific enzymatic cleavages at paired basic residues yield the different active peptides¹

O-glycosylated; reducing sugar is probably N-acetylgalactosamine¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P01189

POMC Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000930.1 NP_001030333.1

ENSEMBL proteins:

ENSP00000384092 ENSP00000264708 ENSP00000379170 ENSP00000387993 ENSP00000370171

Reactome Protein details: P01189
Human Recombinant Protein Products:

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Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

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	--
GO:0005782	peroxisomal matrix	IDA	--

POMC for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for POMC

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

POMC for domains About GeneDecksing

4 InterPro domains/families:

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 families:

IPB013532 Opiodes neuropeptide

IPB013593 Pro-opiomelanocortin N-terminal

UniProtKB/Swiss-Prot: COLI_HUMAN, P01189

Similarity: Belongs to the POMC family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

Genatlas biochemistry entry for POMC:

proopio-melanocortin (adrenocorticotropin/ beta-lipotropin)

miRNA Products:		miRTarBase miRNAs that target POMC: hsa-mir-488 (MIRT005899)

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POMC

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

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

POMC for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for POMC:

Decreased Wnt reporter activit

Increased cell number in G2M,

Synthetic lethal with c-Myc af

Animal Models:
Mouse knock-outs for POMC: Pomc^tm2Ute Pomc^tm1Low
15/16 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Pomc) (see all 16):

adipose tissue	behavior/neurological	cardiovascular system	cellular	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	integument
mortality/aging	nervous system	no phenotypic analysis	pigmentation	renal/urinary system

POMC for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Class A/1 (Rhodopsin-like receptors)

	Class A/1 (Rhodopsin-like receptors)	1.00			Peptide ligand-binding receptors	0.61
	GPCR ligand binding	0.75			G alpha (i) signalling events	0.44

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

G beta:gamma signalling through PLC beta

G-protein activation

0.55

G alpha (s) signalling events

0.14

Development_CNTF receptor signaling

Development_Leptin signaling via JAK/STAT and MAPK cascades

0.25

Development Leptin signaling via JAK/STAT and MAPK cascades

0.25

Opioid Signalling

Opioid Signalling

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for POMC

Development Leptin signaling via JAK/STAT and MAPK cascades

2 Downloadable PowerPoint Slides of QIAGEN 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

2 BioSystems Pathways for POMC

	Syndecan-3-mediated signaling events
	Glucocorticoid receptor regulatory network

5/13 Reactome Pathways for POMC (see all 13)

	GPCR downstream signaling
	Peptide hormone biosynthesis
	Peptide ligand-binding receptors
	Signaling by GPCR
	GPCR ligand binding

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

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for POMC

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

5/224 Interacting proteins for POMC (P01189³ ENSP00000264708⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 224)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MC4R	P32245³, ENSP00000299766⁴	I2D: score=2 STRING: ENSP00000299766
FGF10	O15520³, ENSP00000264664⁴	I2D: score=1 STRING: ENSP00000264664
MC3R	P41968³, ENSP00000243911⁴	I2D: score=1 STRING: ENSP00000243911
PAM	P19021³, ENSP00000306100⁴	I2D: score=1 STRING: ENSP00000306100
MC5R	P33032³, ENSP00000318077⁴	I2D: score=3 STRING: ENSP00000318077

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

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	--

POMC for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

POMC for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for POMC available from Tocris Bioscience About this table

Compound	Action	CAS #
Melanocyte stimulating hormone release inhibiting factor	Inhibitor of alpha-MSH release; inhibits opioid effects in vivo	[2002-44-0]
alpha-MSH	Endogenous melanocortin receptor agonist	[581-05-5]
HS 024	Highly potent MC4 receptor antagonist	[212370-59-7]
HS 014	Selective MC4 receptor antagonist	[207678-81-7]
Melanotan II	High affinity melanocortin receptor agonist	[121062-08-6]

2 HMDB Compounds for POMC About this table

Compound	Synonyms	CAS #	PubMed Ids
Cortisol	11-Hydrocortisone (see all 173)	50-23-7	--
Loperamide	Apo-Loperamide (see all 10)	53179-11-6	--

3 DrugBank Compounds for POMC About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Etorphine	19-Propylorvinol (see all 7)	14521-96-1	target	--	6132412 1318989 1328609 2987913 6259293
Loperamide	--	53179-11-6	target	modulator	1322429 2832297 2855105 2545766 11474216
Dihydromorphine	--	509-60-4	target	agonist	6292632 29252

10/133 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about POMC / COLI

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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)

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat POMC

Additional cDNA 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

24/413 AceView cDNA sequences (see all 413):

CD251494 CD243299 CD108036 CD107664 AA371963 CD107191 CD107322 CD108966

CD514004 CD108377 CD108045 CD107810 CD108829 CD105821 CD109165 CD242572

CD107896 CD242602 CD108859 CD513868 CD108226 CD106464 AI832152 CD109200

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

POMC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

POMC expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Cholinergic Amacrine Cells

Amacrine, Retina

Brain

Hypothalamus

Brain

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

Ventral/hypothalamic-like neurons (Generation of midbra...)

Mesendoderm-like cells (Generation of mesend...)

Definitive endoderm-like cells (A scalable, suspensi...)

See POMC Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for POMC

SOURCE GeneReport for Unigene cluster: Hs.1897

UniProtKB/Swiss-Prot: COLI_HUMAN, P01189

Tissue specificity: ACTH and MSH are produced by the pituitary gland

SABiosciences Expression via Pathway-Focused PCR Array including POMC:

Obesity in human mouse rat

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In Situ
Assay Products:

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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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for POMC gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pomc^{1 , 5}	pro-opiomelanocortin-alpha^{1, 5}	82.7(n)¹ 81.7(a)¹		12 (1.99 cM)⁵ 18976¹ NM_008895.3¹ NP_032921.1¹ 3954951⁵
chicken (Gallus gallus)	Aves	POMC¹	proopiomelanocortin	65.47(n) 56.4(a)		422011 NM_001031098.1 NP_001026269.1
lizard (Anolis carolinensis)	Reptilia	POMC⁶	--	48(a)	1 ↔ 1	GL343547.1(331538-334888)
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)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28932472^1,2	C,F,	other	25121792(-)	`ACAAGC/GGCTAC`	4	R G	mis¹		9	NA EU CSAM EA NS	6821
rs8192607^1,2	C,F,	--	25121376(-)	`TGCCCC/GCACCC`	2	--	ds500¹		1	NA	120
rs35639116^1,2	C,	--	25121408(-)	`ACTTAG/CTGAGC`	2	--	ds500¹		5	NA EU CSAM EA	380
rs11679531^1,2	C,F,H	--	25121624(+)	`AGCAGG/AGCAGG`	2	--	ut3¹		1	NA	4
rs1042571^1,2	C,F,	--	25121631(-)	`GCTCTC/TCCCTG`	2	--	ut3¹ ese³		17	MN NA EU CSAM EA NS WA	2722
rs15461^1,2	C	--	25121643(-)	`CCAAAG/ACCCCT`	2	--	ut3¹ ese³		6	MN	588
rs10654394^1,2	C,F	--	25122200(+)	`Cctgc-/GCC GCTGCTgccgc`	2	GSSGA	cds¹		5	MN	408
rs35254395^1,2	F	--	25122209(-)	`GCGGC-/AGC AGCGGCGCAGC`	6	A S SSGA	fra¹		5	NA EU CSAM EA	380
rs6713396^1,2	C,	--	25122449(+)	`GGCCCT/CGGCCG`	2	--	int¹		7	NA EU CSAM EA WA	500
rs13388660^1,2	C,F,	--	25122783(+)	`AGggcC/Tgggca`	2	--	int¹		1	WA	118

HapMap Linkage Disequilibrium report for POMC (25383722 - 25391772 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for POMC
1 CNV: 7259
Human Gene Mutation Database (HGMD): POMC

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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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POMC for disorders           About GeneDecksing

OMIM gene information: 176830
OMIM disorders: 609734  601665
UniProtKB/Swiss-Prot: COLI_HUMAN, P01189

Defects in POMC may be associated with susceptibility to obesity (OBESITY) [MIM:601665]. It is 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

Defects in POMC are the cause of pro-opiomelanocortinin deficiency (POMCD) [MIM:609734]. Affected individuals

present early-onset obesity, adrenal insufficiency and red hair

20/273 diseases for POMC (see all 273): About MalaCards

17-alpha-hydroxylase/17,20-lyase deficiency obesity, adrenal insufficiency, and red hair due to pomc deficiency glucocorticoid-remediable aldosteronism 48,xxyy syndrome

x-linked adrenal hypoplasia congenita late-onset congenital adrenal hyperplasia open-angle glaucoma obesity, early-onset

lennox-gastaut syndrome pituitary-dependent cushing's disease worster drought syndrome obesity

prolactin producing pituitary tumor growth hormone deficiency 21-hydroxylase deficiency zollinger-ellison syndrome

adrenal hyperplasia spinal cord injury antley-bixler syndrome primary pigmented nodular adrenocortical disease

20/55 diseases from the University of Copenhagen DISEASES database for POMC (see all 55):

Cushing's syndrome Adenoma Nelson syndrome Pituitary adenoma

Hypopituitarism Addison's disease Pain agnosia Hypoglycemia

pituitary-dependent Cushing's disease Hypertension Conn's syndrome Hypokalemia

Hyperaldosteronism Amenorrhea Hyperandrogenism Polycystic ovary syndrome

Hypothyroidism Hyperprolactinemia triple-A syndrome Adrenal carcinoma

10/92 Novoseek 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 9 sources (see all 2057):
(articles sorted by number of sources associating them with POMC)

Utopia: connect your pdf to the dynamic
world of online information

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. (1998)
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. (2001)
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. (2005)
Structural organization of human genomic DNA encoding the pro- opiomelanocortin peptide. (PubMed id 6254047)^{1, 2, 3} Chang A.C.Y.... Cohen S.N. (1980)
Linkage and association studies between the proopiomelanocortin (POMC) gene and obesity in caucasian families. (PubMed id 11151766)^{1, 4, 9} Delplanque J....Froguel P. (2000)
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. (1998)
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. (2005)
Mutational analysis of the proopiomelanocortin gene in Caucasians with early onset obesity. (PubMed id 10193875)^{1, 2, 9} Echwald S.M.... Pedersen O. (1999)
Gene variants and binge eating as predictors of comorbidity and outcome of treatment in severe obesity. (PubMed id 15585384)^{1, 4, 9} Potoczna N....Horber F.F. (2004)
Melanocortin-4 receptor gene and physical activity in the Quebec Family Study. (PubMed id 15597110)^{1, 4, 9} Loos R.J....Bouchard C. (2005)

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

Query String		PubMed OMIM NCBI Bookshelf
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(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
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

Intellectual Property for POMC gene
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Patent Information for POMC gene:
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POMC (Gene Symbol)
Proopiomelanocortin
ACTH
CLIP
LPH
MSH
NPP
POC
Adrenocorticotropic Hormone
Adrenocorticotropin
Alpha-MSH
Alpha-Melanocyte-Stimulating Hormone
Beta-LPH
Beta-MSH
Beta-Endorphin
Beta-Melanocyte-Stimulating Hormone
Corticotropin-Like Intermediary Peptide
Corticotropin-Lipotropin
Gamma-LPH
Gamma-MSH
Lipotropin Beta
Lipotropin Gamma
Melanotropin Alpha
Melanotropin Beta
Melanotropin Gamma
Met-Enkephalin
Opiomelanocortin Prepropeptide
Pro-ACTH-Endorphin
Pro-Opiomelanocortin
Proopiomelanocortin Preproprotein
Corticotropin-Lipotropin

ADRENAL DISEASE
hypercortisolemia
ALLGROVE SYNDROME
Cryptogenic West Syndrome
Hypoaldosteronism
Pituitary Tumors
Sheehan Syndrome
social stress
ADRENAL DYSFUNCTION
Stress Psychological
Hypoglycemia
THYROID CARCINOMA MEDULLARY
GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM
Mood Disorders
Hypopituitarism
Central Diabetes Insipidus
Hyperpigmentation
adrenal hyperplasia
ACTH Syndrome Ectopic
Cocaine Dependence
Stress Disorders Posttraumatic
Adrenal Hyperplasia Congenital
BRONCHIAL CARCINOID TUMOR
Pituitary-dependent Cushings disease
hormone deficiency
Opsoclonus
Adrenal atrophy
Tumors
Pheochromocytoma
metabolic disorder
pituitary adenoma nonfunctioning
ENDOCRINE DISORDER
Hyperandrogenism
Cushing Syndrome
Acute adrenal insufficiency
Shock Septic
major depression
Hyponatremia
Thyroiditis
adenoma ACTH secreting
Adenoma Adrenocortical
Melanoma
Pituitary Diseases
insulin tolerance
Critically Ill
Anorexia Nervosa
ALACRIMA
Hyperplasia
Hyperprolactinemia
PITUITARY ADENOMA
Aldosteronism Primary
Prolactinoma
ACTH DEFICIENCY
Hypothyroidism
Addisons Disease
Acromegaly
Emotional Stress
Alcoholism
Endocrine Effects
Prolactin deficiency
Carcinoid
Leydig Cell Tumor
hypercortisolism
Panhypopituitarism
small cell lung cancer
GONADAL DYSFUNCTION
Neuroendocrine Tumors
Carcinoma Adrenocortical
Chronic Fatigue Syndrome
growth hormone deficiency
Skin Cancer
Adenoma
Ganglioneuroma
Hyperaldosteronism
OBESITY
SIADH
Polycystic Ovary Syndrome
Puberty Precocious
Opsoclonus-Myoclonus Syndrome
TSH DEFICIENCY
Infantile spasms
ADRENAL TUMOR
ADRENAL ADENOMA
Panic
Oligomenorrhea
Hypokalemia
Vitiligo
Nelson Syndrome
ACTH RESISTANCE
alcohol effect
Hypogonadism
HYPOADRENALISM

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POMC Gene

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