POMC (proopiomelanocortin) - Rat Genome Database

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Gene: POMC (proopiomelanocortin) Homo sapiens
Analyze
Symbol: POMC
Name: proopiomelanocortin
RGD ID: 1352097
HGNC Page HGNC
Description: Exhibits hormone activity and melanocortin receptor binding activity. Involved in several processes, including positive regulation of neutrophil mediated killing of fungus; regulation of appetite; and regulation of gene expression. Localizes to extracellular space and peroxisomal matrix. Implicated in familial Mediterranean fever; obesity; and osteoarthritis. Biomarker of severe acute respiratory syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACTH; adrenocorticotropic hormone; adrenocorticotropin; alpha-melanocyte-stimulating hormone; alpha-MSH; beta-endorphin; beta-LPH; beta-melanocyte-stimulating hormone; beta-MSH; CLIP; corticotropin-like intermediary peptide; corticotropin-lipotropin; gamma-LPH; gamma-MSH; lipotropin beta; lipotropin gamma; LPH; melanotropin alpha; melanotropin beta; melanotropin gamma; met-enkephalin; MSH; NPP; OBAIRH; opiomelanocortin prepropeptide; POC; pro-ACTH-endorphin; pro-opiomelanocortin; proopiomelanocortin preproprotein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl225,160,853 - 25,168,903 (-)EnsemblGRCh38hg38GRCh38
GRCh38225,160,860 - 25,168,580 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37225,383,729 - 25,391,449 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36225,237,226 - 25,245,063 (-)NCBINCBI36hg18NCBI36
Build 34225,295,438 - 25,303,103NCBI
Celera225,224,014 - 25,231,854 (-)NCBI
Cytogenetic Map2p23.3NCBI
HuRef225,121,466 - 25,129,306 (-)NCBIHuRef
CHM1_1225,313,607 - 25,321,608 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
ACTH Syndrome, Ectopic  (EXP)
acute kidney failure  (EXP)
acute kidney tubular necrosis  (EXP)
Acute Liver Failure  (EXP)
adrenal cortex disease  (EXP)
Adrenal Insufficiency  (TAS)
amnestic disorder  (EXP)
autistic disorder  (EXP)
bipolar disorder  (EXP)
Body Weight  (EXP)
Bradycardia  (EXP)
Burns  (EXP)
calcinosis  (EXP)
Cardiomegaly  (EXP)
cardiomyopathy  (EXP)
Catalepsy  (EXP)
Cerebral Hemorrhage  (EXP)
cerebral palsy  (EXP)
cholestasis  (EXP)
chondrocalcinosis  (EXP)
Cocaine-Related Disorders  (EXP)
congestive heart failure  (EXP)
constipation  (EXP)
Cushing Syndrome  (EXP)
cystitis  (EXP)
diabetes insipidus  (EXP)
diabetes mellitus  (EXP)
disease by infectious agent  (EXP)
disease of mental health  (EXP)
Edema  (EXP)
epilepsy  (EXP)
epilepsy with generalized tonic-clonic seizures  (EXP)
Experimental Liver Cirrhosis  (EXP)
eye disease  (EXP)
Eye Pain  (EXP)
facial paralysis  (EXP)
familial Mediterranean fever  (IDA)
fatty liver disease  (EXP)
Femur Head Necrosis  (EXP)
Fever  (EXP)
Gastrointestinal Diseases  (EXP)
genetic disease  (IAGP)
glomerulonephritis  (EXP)
Gouty Arthritis  (EXP)
Hematuria  (EXP)
Hemorrhage  (EXP)
heroin dependence  (EXP)
Hirsutism  (EXP)
Hypercalciuria  (EXP)
Hypernatremia  (EXP)
Hyperphagia  (IAGP)
hypertension  (EXP)
hypertrophic cardiomyopathy  (EXP)
Hypocalcemia  (EXP)
hypokalemia  (EXP)
Hypotension  (EXP)
Hypoxia  (EXP)
immune system disease  (EXP)
Inflammation  (IEP,ISO)
inflammatory bowel disease  (ISO)
Kidney Calculi  (EXP)
kidney disease  (EXP)
long QT syndrome  (EXP)
melanoma  (EXP)
mental depression  (EXP)
morbid obesity  (TAS)
multiple sclerosis  (EXP)
myasthenia gravis  (EXP)
Myocardial Ischemia  (EXP)
Myoclonic Epilepsies  (EXP)
Nausea  (EXP)
Necrosis  (EXP)
nephrocalcinosis  (EXP)
Neurogenic Inflammation  (EXP)
Nociceptive Pain  (ISO)
obesity  (EXP,IAGP)
Oliguria  (EXP)
Opsoclonus-Myoclonus Syndrome  (EXP)
osteoarthritis  (IMP)
osteoporosis  (EXP)
Pain  (EXP)
pancreas disease  (EXP)
penile disease  (EXP)
pituitary-dependent Cushing's disease  (EXP)
pneumonia  (EXP)
Postoperative Complications  (EXP)
Proopiomelanocortin Deficiency  (IAGP)
proteinuria  (EXP)
Recurrence  (EXP)
renal cell carcinoma  (EXP)
restless legs syndrome  (EXP)
Rhabdomyoma  (EXP)
Sacroiliitis  (EXP)
severe acute respiratory syndrome  (IEP)
sick sinus syndrome  (EXP)
sleep disorder  (EXP)
subvalvular aortic stenosis  (EXP)
synovitis  (EXP)
urinary tract infection  (EXP)
visual epilepsy  (EXP)
Weight Gain  (EXP)
Weight Loss  (EXP)
West syndrome  (EXP)
withdrawal disorder  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(20S)-20-hydroxypregn-4-en-3-one  (ISO)
(S)-colchicine  (ISO)
(S)-nicotine  (ISO)
(Z)-hex-3-en-1-ol  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (EXP)
11-deoxycorticosterone  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
18-Hydroxycortisol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,3,3,4,4,5,5,6,6,7,7,8,8,9,9-hexadecafluorononanoic acid  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
2-hexenal  (ISO)
20-HETE  (ISO)
3',5'-cyclic AMP  (ISO)
3',5'-cyclic GMP  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
8-OH-DPAT  (ISO)
acetaldehyde  (ISO)
acetamide  (ISO)
acetylcholine  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
aflatoxin B2  (EXP)
aldehydo-D-glucose  (ISO)
aldosterone  (EXP,ISO)
all-trans-retinol  (ISO)
AM-251  (ISO)
ammonium chloride  (ISO)
apocynin  (ISO)
Aroclor 1254  (ISO)
aspartame  (EXP)
astressin 2B  (ISO)
atorvastatin calcium  (ISO)
atrazine  (ISO)
atropine  (ISO)
Aurothioglucose  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-hexachlorocyclohexane  (ISO)
bezafibrate  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bromocriptine  (EXP,ISO)
bucladesine  (EXP)
buspirone  (EXP)
cadmium dichloride  (ISO)
caffeine  (ISO)
capsaicin  (ISO)
capsazepine  (ISO)
carbamazepine  (EXP)
celecoxib  (ISO)
chloroquine  (ISO)
chlorpyrifos  (EXP)
citalopram  (EXP)
clofibrate  (ISO)
clonidine  (EXP,ISO)
clonidine (amino form)  (EXP,ISO)
clonidine (imino form)  (EXP,ISO)
cobalt dichloride  (ISO)
cocaine  (EXP,ISO)
corticosterone  (ISO)
cortisol  (EXP)
cyanamide  (ISO)
cycloheximide  (ISO)
cyclophosphamide  (ISO)
cyproheptadine  (EXP)
D-glucose  (ISO)
DDE  (ISO)
DDT  (EXP)
deethylatrazine  (ISO)
dehydroepiandrosterone sulfate  (EXP)
deisopropylatrazine  (ISO)
dexamethasone  (EXP,ISO)
dichlorvos  (ISO)
dimethyl sulfoxide  (ISO)
dinitrogen oxide  (ISO)
dioxygen  (ISO)
diprotium oxide  (ISO)
disodium cromoglycate  (ISO)
disulfiram  (ISO)
dodecane  (ISO)
dopachrome  (ISO)
dopamine  (ISO)
endosulfan  (ISO)
ethanol  (EXP,ISO)
ether  (ISO)
fentanyl  (EXP)
finasteride  (EXP)
fludrocortisone  (EXP)
fluoxetine  (ISO)
fomepizole  (EXP)
formaldehyde  (ISO)
fructose  (ISO)
fulvestrant  (ISO)
gamma-hexachlorocyclohexane  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glucose  (ISO)
glycerol  (EXP)
GTP  (EXP,ISO)
guanosine 5'-[beta,gamma-imido]triphosphate  (EXP,ISO)
halothane  (ISO)
herbicide  (ISO)
imipramine  (EXP)
indometacin  (ISO)
isoprenaline  (ISO)
ketoconazole  (ISO)
lansoprazole  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lidocaine  (ISO)
linsidomine  (ISO)
lipopolysaccharide  (ISO)
lithium atom  (EXP)
lithium hydride  (EXP)
lycopene  (ISO)
magnesium atom  (ISO)
melanins  (ISO)
melatonin  (EXP,ISO)
metformin  (ISO)
methamidophos  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
metyrapone  (EXP,ISO)
mifepristone  (ISO)
monosodium L-glutamate  (ISO)
morphine  (EXP,ISO)
muscimol  (ISO)
N-acetyl-L-cysteine  (ISO)
naloxone  (EXP,ISO)
Naltrindole  (ISO)
naproxen  (ISO)
nickel atom  (ISO)
nicotine  (ISO)
nitric oxide  (ISO)
nitroprusside  (ISO)
nonane  (ISO)
Nonylphenol  (ISO)
NS-398  (ISO)
olanzapine  (ISO)
Osajin  (EXP)
oxidopamine  (ISO)
paracetamol  (EXP)
Pentagastrin  (EXP)
pentobarbital  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phentolamine  (ISO)
phenylarsine oxide  (ISO)
phenylephrine  (EXP,ISO)
phenylpropanolamine  (ISO)
Pomiferin  (EXP)
potassium atom  (EXP,ISO)
prednisolone  (ISO)
prednisone  (EXP)
progesterone  (EXP,ISO)
propazine  (ISO)
pyridoxal 5'-phosphate  (ISO)
quercetin  (ISO)
rabeprazole  (EXP)
reactive nitrogen species  (ISO)
reserpine  (ISO)
resveratrol  (ISO)
Rosavin  (EXP)
ruthenium red  (ISO)
sarin  (ISO)
SB 203580  (ISO)
simazine  (ISO)
sodium atom  (ISO)
sodium chloride  (EXP,ISO)
spironolactone  (ISO)
streptozocin  (ISO)
sufentanil  (EXP)
sumatriptan  (EXP,ISO)
superoxide  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
theophylline  (ISO)
thimerosal  (ISO)
thioacetamide  (ISO)
toluene  (ISO)
triamcinolone  (EXP)
triclosan  (EXP)
trilostane  (ISO)
triphenyl phosphate  (ISO)
triphenylstannane  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
urethane  (ISO)
valproic acid  (ISO)
water  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
alfentanil pharmacodynamics pathway  (EXP)
altered energy homeostasis pathway  (TAS)
altered melanocortin system pathway  (TAS)
bupivacaine pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway  (EXP)
chloroprocaine pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
fentanyl pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
heroin pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
melanocortin system pathway  (EXP,TAS)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
obesity pathway  (TAS)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
syndecan signaling pathway  (EXP)
tramadol pharmacodynamics pathway  (EXP)

References

Additional References at PubMed
PMID:195688   PMID:1264228   PMID:1656407   PMID:2424570   PMID:2475499   PMID:2558057   PMID:2839146   PMID:3606677   PMID:4334191   PMID:4338630   PMID:4347148   PMID:4352834  
PMID:4368999   PMID:6196780   PMID:6254047   PMID:6267033   PMID:6272808   PMID:6274691   PMID:6280146   PMID:6299668   PMID:6314261   PMID:6546764   PMID:6945581   PMID:7477400  
PMID:7566098   PMID:7726641   PMID:7828531   PMID:7905839   PMID:8185570   PMID:8208289   PMID:9058374   PMID:9186529   PMID:9620771   PMID:9768693   PMID:9851780   PMID:10193875  
PMID:10233018   PMID:10670585   PMID:10942578   PMID:11041375   PMID:11101306   PMID:11151766   PMID:11244459   PMID:11278902   PMID:11606131   PMID:11936276   PMID:11979399   PMID:12032760  
PMID:12036966   PMID:12039064   PMID:12068494   PMID:12165561   PMID:12213892   PMID:12220743   PMID:12475731   PMID:12477932   PMID:12485424   PMID:12566947   PMID:12590613   PMID:12591959  
PMID:12643442   PMID:12697721   PMID:12787137   PMID:12887283   PMID:12914931   PMID:12944398   PMID:14463577   PMID:14532850   PMID:14576363   PMID:14645373   PMID:14729605   PMID:15004414  
PMID:15009732   PMID:15099286   PMID:15100697   PMID:15102092   PMID:15226502   PMID:15251468   PMID:15340161   PMID:15358786   PMID:15464199   PMID:15480745   PMID:15489334   PMID:15498881  
PMID:15546902   PMID:15560758   PMID:15585384   PMID:15597110   PMID:15666826   PMID:15666849   PMID:15798195   PMID:15835810   PMID:15862552   PMID:15864412   PMID:15949633   PMID:15951321  
PMID:16046320   PMID:16046867   PMID:16081629   PMID:16091310   PMID:16136011   PMID:16136012   PMID:16177130   PMID:16222047   PMID:16289330   PMID:16459314   PMID:16459315   PMID:16610949  
PMID:16675966   PMID:16682835   PMID:16740999   PMID:16752831   PMID:16807684   PMID:16876134   PMID:16876316   PMID:16892066   PMID:16946714   PMID:16984256   PMID:17043312   PMID:17079660  
PMID:17108680   PMID:17122358   PMID:17235324   PMID:17317724   PMID:17347308   PMID:17351784   PMID:17363457   PMID:17487313   PMID:17503481   PMID:17525122   PMID:17545153   PMID:17584964  
PMID:17604950   PMID:17687619   PMID:17696832   PMID:17719137   PMID:18057378   PMID:18091355   PMID:18234565   PMID:18240029   PMID:18292087   PMID:18294637   PMID:18378043   PMID:18388149  
PMID:18391951   PMID:18398047   PMID:18510797   PMID:18551113   PMID:18589403   PMID:18600473   PMID:18636124   PMID:18697863   PMID:18753988   PMID:18818748   PMID:18974267   PMID:18992263  
PMID:18996102   PMID:19019335   PMID:19049975   PMID:19058789   PMID:19077144   PMID:19077438   PMID:19086053   PMID:19119631   PMID:19167016   PMID:19170705   PMID:19217079   PMID:19282378  
PMID:19297547   PMID:19337797   PMID:19363600   PMID:19384953   PMID:19426838   PMID:19452503   PMID:19453261   PMID:19491387   PMID:19527514   PMID:19560499   PMID:19561113   PMID:19574343  
PMID:19723618   PMID:19743876   PMID:19747414   PMID:19770186   PMID:19790046   PMID:19797501   PMID:19835629   PMID:19874574   PMID:19913121   PMID:20097762   PMID:20170714   PMID:20176366  
PMID:20191296   PMID:20200332   PMID:20403506   PMID:20424473   PMID:20468064   PMID:20482620   PMID:20602615   PMID:20610647   PMID:20628086   PMID:20634197   PMID:20639461   PMID:20734064  
PMID:20810565   PMID:20935630   PMID:21037584   PMID:21193556   PMID:21277631   PMID:21332028   PMID:21367968   PMID:21521257   PMID:21536413   PMID:21622576   PMID:21723177   PMID:21832049  
PMID:21873635   PMID:21980299   PMID:22078238   PMID:22112433   PMID:22328135   PMID:22398003   PMID:22403619   PMID:22492775   PMID:22544740   PMID:22612534   PMID:22643178   PMID:22792774  
PMID:22842514   PMID:22933782   PMID:23028917   PMID:23038967   PMID:23118421   PMID:23218956   PMID:23224873   PMID:23314782   PMID:23402298   PMID:23426689   PMID:23449627   PMID:23468531  
PMID:23563607   PMID:23669352   PMID:23739976   PMID:23810011   PMID:23831408   PMID:23933687   PMID:24271034   PMID:24354022   PMID:24564533   PMID:24732669   PMID:24926820   PMID:25013995  
PMID:25140322   PMID:25205705   PMID:25353285   PMID:25377161   PMID:25448875   PMID:25622010   PMID:25798605   PMID:25898835   PMID:26084546   PMID:26152765   PMID:26226973   PMID:26345846  
PMID:26427140   PMID:26437741   PMID:26513428   PMID:26758700   PMID:26940669   PMID:27227698   PMID:27273100   PMID:27396757   PMID:27885802   PMID:27935805   PMID:28075583   PMID:28319085  
PMID:28328532   PMID:28514442   PMID:29020973   PMID:29275211   PMID:29412826   PMID:29598821   PMID:29858905   PMID:29871818   PMID:30009717   PMID:30597578   PMID:30721648   PMID:31329297  
PMID:31344387   PMID:31822342   PMID:31837203   PMID:32296183   PMID:32350353   PMID:32414136   PMID:32961416   PMID:33046908   PMID:33462216  


Genomics

Candidate Gene Status
POMC is a candidate Gene for QTL BW207_H
POMC is a candidate Gene for QTL BW214_H
POMC is a candidate Gene for QTL SLEP5_H
POMC is a candidate Gene for QTL SLEP6_H
POMC is a candidate Gene for QTL SLEP8_H
POMC is a candidate Gene for QTL BW507_H
POMC is a candidate Gene for QTL INSUL1_H
POMC is a candidate Gene for QTL BW508_H
Comparative Map Data
POMC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl225,160,853 - 25,168,903 (-)EnsemblGRCh38hg38GRCh38
GRCh38225,160,860 - 25,168,580 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37225,383,729 - 25,391,449 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36225,237,226 - 25,245,063 (-)NCBINCBI36hg18NCBI36
Build 34225,295,438 - 25,303,103NCBI
Celera225,224,014 - 25,231,854 (-)NCBI
Cytogenetic Map2p23.3NCBI
HuRef225,121,466 - 25,129,306 (-)NCBIHuRef
CHM1_1225,313,607 - 25,321,608 (-)NCBICHM1_1
Pomc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39124,004,945 - 4,010,643 (+)NCBIGRCm39mm39
GRCm39 Ensembl124,004,951 - 4,010,642 (+)Ensembl
GRCm38123,954,945 - 3,960,643 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl123,954,951 - 3,960,642 (+)EnsemblGRCm38mm10GRCm38
MGSCv37123,954,951 - 3,960,618 (+)NCBIGRCm37mm9NCBIm37
MGSCv36123,954,967 - 3,960,634 (+)NCBImm8
Celera123,882,694 - 3,888,357 (+)NCBICelera
Cytogenetic Map12A1.1NCBI
cM Map121.99NCBI
Pomc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2626,939,844 - 26,945,666 (+)NCBI
Rnor_6.0 Ensembl628,382,962 - 28,388,967 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0628,382,937 - 28,388,771 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0638,191,989 - 38,197,809 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4626,931,969 - 26,937,789 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1626,934,921 - 26,940,742 (+)NCBI
Celera626,415,706 - 26,421,526 (+)NCBICelera
RH 3.4 Map6117.99RGD
Cytogenetic Map6q14NCBI
Pomc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554697,217,363 - 7,220,386 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554697,217,233 - 7,220,401 (-)NCBIChiLan1.0ChiLan1.0
POMC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A25,258,768 - 25,266,806 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A25,258,768 - 25,262,706 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A25,161,668 - 25,165,600 (-)NCBIMhudiblu_PPA_v0panPan3
POMC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11719,431,396 - 19,438,247 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1719,431,585 - 19,434,440 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1719,328,041 - 19,334,822 (-)NCBI
ROS_Cfam_1.01719,706,608 - 19,713,398 (-)NCBI
UMICH_Zoey_3.11719,440,669 - 19,447,445 (-)NCBI
UNSW_CanFamBas_1.01719,450,362 - 19,457,130 (-)NCBI
UU_Cfam_GSD_1.01719,496,844 - 19,503,629 (-)NCBI
Pomc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629263,774,289 - 63,781,377 (-)NCBI
SpeTri2.0NW_0049364937,060,747 - 7,065,276 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POMC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.13113,661,712 - 113,668,558 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23120,766,352 - 120,772,976 (+)NCBISscrofa10.2Sscrofa10.2susScr3
POMC
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11482,491,296 - 82,499,289 (+)NCBI
ChlSab1.1 Ensembl1482,494,323 - 82,499,447 (+)Ensembl
Pomc
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247387,442,223 - 7,448,513 (-)NCBI

Position Markers
RH79890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,383,760 - 25,383,958UniSTSGRCh37
Build 36225,237,264 - 25,237,462RGDNCBI36
Celera225,224,052 - 25,224,250RGD
Cytogenetic Map2p23.3UniSTS
HuRef225,121,504 - 25,121,702UniSTS
GeneMap99-GB4 RH Map2128.2UniSTS
GDB:181256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,385,671 - 25,386,263UniSTSGRCh37
Build 36225,239,175 - 25,239,767RGDNCBI36
Celera225,225,963 - 25,226,555RGD
Cytogenetic Map2p23.3UniSTS
HuRef225,123,415 - 25,124,007UniSTS
PMC310777P14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,391,616 - 25,391,891UniSTSGRCh37
Build 36225,245,120 - 25,245,395RGDNCBI36
Celera225,231,911 - 25,232,186RGD
Cytogenetic Map2p23.3UniSTS
HuRef225,129,363 - 25,129,638UniSTS
PMC310777P15  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,383,974 - 25,384,122UniSTSGRCh37
Build 36225,237,478 - 25,237,626RGDNCBI36
Celera225,224,266 - 25,224,414RGD
Cytogenetic Map2p23.3UniSTS
HuRef225,121,718 - 25,121,866UniSTS
PMC314306P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,384,162 - 25,384,423UniSTSGRCh37
Build 36225,237,666 - 25,237,927RGDNCBI36
Celera225,224,454 - 25,224,715RGD
Cytogenetic Map2p23.3UniSTS
HuRef225,121,906 - 25,122,167UniSTS
MARC_6319-6320:997299547:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37225,384,267 - 25,384,607UniSTSGRCh37
Build 36225,237,771 - 25,238,111RGDNCBI36
Celera225,224,559 - 25,224,899RGD
HuRef225,122,011 - 25,122,351UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR488hsa-miR-488-3pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayFunctional MTI21168126

Predicted Target Of
Summary Value
Count of predictions:1953
Count of miRNA genes:522
Interacting mature miRNAs:582
Transcripts:ENST00000264708, ENST00000380794, ENST00000395826, ENST00000405623, ENST00000449220
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 2 1 274 3 1 273 2 2
Medium 214 130 250 17 238 10 351 126 250 11 483 195 7 87 200
Low 2018 2732 1013 435 1445 283 3779 1942 3088 271 837 1197 152 1107 2454 2
Below cutoff 85 119 151 146 102 143 157 91 32 92 47 83 5 10 128 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001035256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI341269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW951218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB988233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD106051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD106168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD108235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ884404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY050419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX003323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M28636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M38297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  T29537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  V01510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264708   ⟹   ENSP00000264708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl225,160,985 - 25,168,571 (-)Ensembl
RefSeq Acc Id: ENST00000380794   ⟹   ENSP00000370171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl225,160,853 - 25,168,690 (-)Ensembl
RefSeq Acc Id: ENST00000395826   ⟹   ENSP00000379170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl225,160,860 - 25,168,580 (-)Ensembl
RefSeq Acc Id: ENST00000405623   ⟹   ENSP00000384092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl225,160,915 - 25,168,903 (-)Ensembl
RefSeq Acc Id: ENST00000449220   ⟹   ENSP00000387993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl225,161,146 - 25,168,571 (-)Ensembl
RefSeq Acc Id: NM_000939   ⟹   NP_000930
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,160,860 - 25,168,580 (-)NCBI
GRCh37225,383,722 - 25,391,559 (-)ENTREZGENE
Build 36225,237,226 - 25,245,063 (-)NCBI Archive
HuRef225,121,466 - 25,129,306 (-)ENTREZGENE
CHM1_1225,313,607 - 25,321,608 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001035256   ⟹   NP_001030333
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,160,860 - 25,168,580 (-)NCBI
GRCh37225,383,722 - 25,391,559 (-)ENTREZGENE
Build 36225,237,226 - 25,245,063 (-)NCBI Archive
HuRef225,121,466 - 25,129,306 (-)ENTREZGENE
CHM1_1225,313,607 - 25,321,608 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001319204   ⟹   NP_001306133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,160,860 - 25,168,580 (-)NCBI
CHM1_1225,313,607 - 25,321,608 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001319205   ⟹   NP_001306134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,160,860 - 25,168,580 (-)NCBI
CHM1_1225,313,607 - 25,321,608 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000930 (Get FASTA)   NCBI Sequence Viewer  
  NP_001030333 (Get FASTA)   NCBI Sequence Viewer  
  NP_001306133 (Get FASTA)   NCBI Sequence Viewer  
  NP_001306134 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35799 (Get FASTA)   NCBI Sequence Viewer  
  AAA60139 (Get FASTA)   NCBI Sequence Viewer  
  AAA60140 (Get FASTA)   NCBI Sequence Viewer  
  AAB59621 (Get FASTA)   NCBI Sequence Viewer  
  AAC60644 (Get FASTA)   NCBI Sequence Viewer  
  AAH65832 (Get FASTA)   NCBI Sequence Viewer  
  AAV38721 (Get FASTA)   NCBI Sequence Viewer  
  AAY24354 (Get FASTA)   NCBI Sequence Viewer  
  ABI63371 (Get FASTA)   NCBI Sequence Viewer  
  AFV77533 (Get FASTA)   NCBI Sequence Viewer  
  AFV77534 (Get FASTA)   NCBI Sequence Viewer  
  AFV77535 (Get FASTA)   NCBI Sequence Viewer  
  AFV77536 (Get FASTA)   NCBI Sequence Viewer  
  AFV77537 (Get FASTA)   NCBI Sequence Viewer  
  AFV77538 (Get FASTA)   NCBI Sequence Viewer  
  AFV77539 (Get FASTA)   NCBI Sequence Viewer  
  AFV77540 (Get FASTA)   NCBI Sequence Viewer  
  AFV77541 (Get FASTA)   NCBI Sequence Viewer  
  AFV77542 (Get FASTA)   NCBI Sequence Viewer  
  AFV77543 (Get FASTA)   NCBI Sequence Viewer  
  AFV77544 (Get FASTA)   NCBI Sequence Viewer  
  AFV77545 (Get FASTA)   NCBI Sequence Viewer  
  AFV77546 (Get FASTA)   NCBI Sequence Viewer  
  AFV77547 (Get FASTA)   NCBI Sequence Viewer  
  AFV77548 (Get FASTA)   NCBI Sequence Viewer  
  AFV77549 (Get FASTA)   NCBI Sequence Viewer  
  AFV77550 (Get FASTA)   NCBI Sequence Viewer  
  AFV77551 (Get FASTA)   NCBI Sequence Viewer  
  AFV77552 (Get FASTA)   NCBI Sequence Viewer  
  CAA24754 (Get FASTA)   NCBI Sequence Viewer  
  CAG46625 (Get FASTA)   NCBI Sequence Viewer  
  EAX00729 (Get FASTA)   NCBI Sequence Viewer  
  EAX00730 (Get FASTA)   NCBI Sequence Viewer  
  P01189 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000930   ⟸   NM_000939
- Peptide Label: preproprotein
- UniProtKB: P01189 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001030333   ⟸   NM_001035256
- Peptide Label: preproprotein
- UniProtKB: P01189 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001306134   ⟸   NM_001319205
- Peptide Label: preproprotein
- UniProtKB: P01189 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001306133   ⟸   NM_001319204
- Peptide Label: preproprotein
- UniProtKB: P01189 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000384092   ⟸   ENST00000405623
RefSeq Acc Id: ENSP00000370171   ⟸   ENST00000380794
RefSeq Acc Id: ENSP00000387993   ⟸   ENST00000449220
RefSeq Acc Id: ENSP00000379170   ⟸   ENST00000395826
RefSeq Acc Id: ENSP00000264708   ⟸   ENST00000264708
Protein Domains
ACTH_domain   NPP   Op_neuropeptide

Promoters
RGD ID:6859798
Promoter ID:EPDNEW_H3063
Type:initiation region
Name:POMC_1
Description:proopiomelanocortin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38225,168,580 - 25,168,640EPDNEW
RGD ID:6814674
Promoter ID:HG_XEF:4380
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:NM_001031098,   NM_001032985,   NM_001124718,   NM_001163390
Position:
Human AssemblyChrPosition (strand)Source
Build 36225,237,676 - 25,238,176 (-)MPROMDB
RGD ID:6797189
Promoter ID:HG_KWN:31803
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000264708,   NM_000939,   NM_001035256,   UC002RGA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36225,244,531 - 25,245,031 (-)MPROMDB
RGD ID:6849978
Promoter ID:EP07105
Type:single initiation site
Name:HS_POMC
Description:Proopiomelanocortin, adrenocorticotropic hormone/beta lipotropichormone, POMC gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 136; Mammalian POMC
Tissues & Cell Lines:CNS, pituitary
Experiment Methods:Nuclease protection with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 36225,244,956 - 25,245,016EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000939.4(POMC):c.429C>G (p.His143Gln) single nucleotide variant Obesity [RCV001139995]|Proopiomelanocortin deficiency [RCV001139996]|not provided [RCV000522801] Chr2:25161456 [GRCh38]
Chr2:25384325 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.433del (p.Arg145fs) deletion Proopiomelanocortin deficiency [RCV000014282] Chr2:25161452 [GRCh38]
Chr2:25384321 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000939.4(POMC):c.-11C>A single nucleotide variant Proopiomelanocortin deficiency [RCV000014283] Chr2:25164783 [GRCh38]
Chr2:25387652 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000939.4(POMC):c.403_404dup (p.Lys136fs) duplication Proopiomelanocortin deficiency [RCV000014285] Chr2:25161480..25161481 [GRCh38]
Chr2:25384349..25384350 [GRCh37]
Chr2:2p23.3
pathogenic
POMC, 1-BP DEL, NT6996 deletion Proopiomelanocortin deficiency [RCV000014287] Chr2:2p23.3 pathogenic
NM_001035256.2(POMC):c.297_298ins90 (p.?) insertion Obesity [RCV000723324] Chr2:25161587..25161588 [GRCh38]
Chr2:25384456..25384457 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.280_288AGCAGCGGC[4] (p.94_96SSG[4]) microsatellite not provided [RCV000729456] Chr2:25161587..25161588 [GRCh38]
Chr2:25384456..25384457 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.313G>T (p.Glu105Ter) single nucleotide variant Proopiomelanocortin deficiency [RCV000014281] Chr2:25161572 [GRCh38]
Chr2:25384441 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) single nucleotide variant Obesity, early-onset, susceptibility to [RCV000014284]|Proopiomelanocortin deficiency [RCV000986596]|not provided [RCV000490219] Chr2:25161179 [GRCh38]
Chr2:25384048 [GRCh37]
Chr2:2p23.3
risk factor|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000939.4(POMC):c.151A>T (p.Lys51Ter) single nucleotide variant Proopiomelanocortin deficiency [RCV000014286] Chr2:25161734 [GRCh38]
Chr2:25384603 [GRCh37]
Chr2:2p23.3
pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
NM_001035256.2(POMC):c.20_21ins25 insertion Inborn genetic diseases [RCV000190728] Chr2:25164752..25164753 [GRCh38]
Chr2:25387621..25387622 [GRCh37]
Chr2:2p23.3
pathogenic
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2
pathogenic
GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1 copy number loss See cases [RCV000137065] Chr2:25064306..27154398 [GRCh38]
Chr2:25287175..27377266 [GRCh37]
Chr2:25140679..27230770 [NCBI36]
Chr2:2p23.3
uncertain significance
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2
pathogenic
GRCh38/hg38 2p23.3(chr2:25113266-25618499)x3 copy number gain See cases [RCV000142991] Chr2:25113266..25618499 [GRCh38]
Chr2:25336135..25841368 [GRCh37]
Chr2:25189639..25694872 [NCBI36]
Chr2:2p23.3
uncertain significance
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
NM_000939.4(POMC):c.641A>G (p.Glu214Gly) single nucleotide variant Obesity [RCV001142527]|not provided [RCV000953171]|not specified [RCV000192320] Chr2:25161244 [GRCh38]
Chr2:25384113 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_000939.4(POMC):c.280_288AGCAGCGGC[3] (p.94_96SSG[3]) microsatellite Monogenic Non-Syndromic Obesity [RCV000284681]|Proopiomelanocortin deficiency [RCV000376949]|not specified [RCV000194292] Chr2:25161587..25161588 [GRCh38]
Chr2:25384456..25384457 [GRCh37]
Chr2:2p23.3
benign|likely benign
NM_001035256.2(POMC):c.-203A>G single nucleotide variant Obesity [RCV000262838]|Proopiomelanocortin deficiency [RCV000356179] Chr2:25168630 [GRCh38]
Chr2:25391499 [GRCh37]
Chr2:2p23.3
benign|uncertain significance
NM_000939.4(POMC):c.293_294insAGGCAGCGG (p.Ser98delinsArgGlySerGly) insertion not provided [RCV000722340] Chr2:25161591..25161592 [GRCh38]
Chr2:25384460..25384461 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.474G>T (p.Lys158Asn) single nucleotide variant Obesity [RCV000319956]|Proopiomelanocortin deficiency [RCV000279476] Chr2:25161411 [GRCh38]
Chr2:25384280 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.*28del deletion Monogenic Non-Syndromic Obesity [RCV000275874]|Proopiomelanocortin deficiency [RCV000367979] Chr2:25161053 [GRCh38]
Chr2:25383922 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.*63C>T single nucleotide variant Obesity [RCV000272308]|Proopiomelanocortin deficiency [RCV000329597] Chr2:25161018 [GRCh38]
Chr2:25383887 [GRCh37]
Chr2:2p23.3
benign|likely benign
NM_000939.4(POMC):c.585C>T (p.Ala195=) single nucleotide variant Obesity [RCV000333276]|Proopiomelanocortin deficiency [RCV000371673] Chr2:25161300 [GRCh38]
Chr2:25384169 [GRCh37]
Chr2:2p23.3
benign|likely benign
NM_000939.4(POMC):c.158A>G (p.Asp53Gly) single nucleotide variant Obesity [RCV000345346]|Proopiomelanocortin deficiency [RCV000288152]|not provided [RCV000902149] Chr2:25161727 [GRCh38]
Chr2:25384596 [GRCh37]
Chr2:2p23.3
benign|likely benign|uncertain significance
NM_000939.4(POMC):c.282C>T (p.Ser94=) single nucleotide variant Obesity [RCV000404440]|Proopiomelanocortin deficiency [RCV000341979] Chr2:25161603 [GRCh38]
Chr2:25384472 [GRCh37]
Chr2:2p23.3
benign|likely benign
NM_000939.4(POMC):c.4C>T (p.Pro2Ser) single nucleotide variant Obesity [RCV000399903]|Proopiomelanocortin deficiency [RCV000367787] Chr2:25164769 [GRCh38]
Chr2:25387638 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.18C>T (p.Cys6=) single nucleotide variant Obesity [RCV000394433]|Proopiomelanocortin deficiency [RCV000310805]|not provided [RCV000948593] Chr2:25164755 [GRCh38]
Chr2:25387624 [GRCh37]
Chr2:2p23.3
benign|likely benign|uncertain significance
NM_000939.4(POMC):c.-20-906C>T single nucleotide variant Obesity [RCV000260320]|Proopiomelanocortin deficiency [RCV000317819] Chr2:25165698 [GRCh38]
Chr2:25388567 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000939.4(POMC):c.-20-904T>C single nucleotide variant Obesity [RCV000314386]|Proopiomelanocortin deficiency [RCV000371122] Chr2:25165696 [GRCh38]
Chr2:25388565 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.*120A>G single nucleotide variant Obesity [RCV000307847]|Proopiomelanocortin deficiency [RCV000364533] Chr2:25160961 [GRCh38]
Chr2:25383830 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.20_21insGGGCCCTCGGGGGCCCCTCGGGTGG (p.Ser7fs) insertion Inborn genetic diseases [RCV000622715] Chr2:25164752..25164753 [GRCh38]
Chr2:25387621..25387622 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000939.4(POMC):c.399C>T (p.Arg133=) single nucleotide variant not provided [RCV000598409] Chr2:25161486 [GRCh38]
Chr2:25384355 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.430T>C (p.Phe144Leu) single nucleotide variant not provided [RCV000732529] Chr2:25161455 [GRCh38]
Chr2:25384324 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.251G>A (p.Trp84Ter) single nucleotide variant not provided [RCV000732530] Chr2:25161634 [GRCh38]
Chr2:25384503 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000939.4(POMC):c.55C>T (p.Gln19Ter) single nucleotide variant not provided [RCV000732531] Chr2:25164718 [GRCh38]
Chr2:25387587 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_000939.4(POMC):c.225del (p.Lys76fs) deletion not provided [RCV000732533] Chr2:25161660 [GRCh38]
Chr2:25384529 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000939.4(POMC):c.730G>C (p.Glu244Gln) single nucleotide variant not provided [RCV000732538] Chr2:25161155 [GRCh38]
Chr2:25384024 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.616G>T (p.Glu206Ter) single nucleotide variant not provided [RCV000438358] Chr2:25161269 [GRCh38]
Chr2:25384138 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000939.4(POMC):c.599_604dup (p.Gln202_Ala203insArgAla) duplication Obesity [RCV001263288]|not provided [RCV000487385] Chr2:25161280..25161281 [GRCh38]
Chr2:25384149..25384150 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1 copy number loss not provided [RCV000509286] Chr2:24235780..25700427 [GRCh37]
Chr2:2p23.3
not provided
NM_000939.4(POMC):c.250T>G (p.Trp84Gly) single nucleotide variant not specified [RCV000504141] Chr2:25161635 [GRCh38]
Chr2:25384504 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.133-2A>C single nucleotide variant Proopiomelanocortin deficiency [RCV000500140] Chr2:25161754 [GRCh38]
Chr2:25384623 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000939.4(POMC):c.289A>C (p.Ser97Arg) single nucleotide variant not specified [RCV000502370] Chr2:25161596 [GRCh38]
Chr2:25384465 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
POMC, 1-BP INS, 6922C insertion Proopiomelanocortin deficiency [RCV000584754] Chr2:2p23.3 pathogenic
GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3 copy number gain Seizures [RCV000677197] Chr2:24807000..25700000 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p23.3(chr2:24315204-26384655)x3 copy number gain not provided [RCV000682143] Chr2:24315204..26384655 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
NM_000939.4(POMC):c.433C>T (p.Arg145Cys) single nucleotide variant POMC-Related Disorders [RCV000778607] Chr2:25161452 [GRCh38]
Chr2:25384321 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.261C>A (p.Phe87Leu) single nucleotide variant Obesity [RCV001140754]|Proopiomelanocortin deficiency [RCV001140755]|not provided [RCV000882548] Chr2:25161624 [GRCh38]
Chr2:25384493 [GRCh37]
Chr2:2p23.3
benign|likely benign|uncertain significance
NM_000939.4(POMC):c.346C>T (p.Leu116=) single nucleotide variant Obesity [RCV001139999]|not provided [RCV000903366] Chr2:25161539 [GRCh38]
Chr2:25384408 [GRCh37]
Chr2:2p23.3
benign|likely benign
NM_000939.4(POMC):c.141C>A (p.Ile47=) single nucleotide variant not provided [RCV000918787] Chr2:25161744 [GRCh38]
Chr2:25384613 [GRCh37]
Chr2:2p23.3
likely benign
NM_000939.4(POMC):c.84C>A (p.Cys28Ter) single nucleotide variant Proopiomelanocortin deficiency [RCV000825008] Chr2:25164689 [GRCh38]
Chr2:25387558 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000939.4(POMC):c.498C>T (p.Asp166=) single nucleotide variant Obesity [RCV001137757]|Proopiomelanocortin deficiency [RCV001137756] Chr2:25161387 [GRCh38]
Chr2:25384256 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.638C>T (p.Ala213Val) single nucleotide variant Obesity [RCV001137755]|Proopiomelanocortin deficiency [RCV001142528] Chr2:25161247 [GRCh38]
Chr2:25384116 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.416dup (p.Tyr139Ter) duplication Proopiomelanocortin deficiency [RCV000825007] Chr2:25161468..25161469 [GRCh38]
Chr2:25384337..25384338 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000939.4(POMC):c.186G>A (p.Pro62=) single nucleotide variant not provided [RCV000937051] Chr2:25161699 [GRCh38]
Chr2:25384568 [GRCh37]
Chr2:2p23.3
likely benign
GRCh37/hg19 2p23.3(chr2:25286991-25395829)x3 copy number gain not provided [RCV000848649] Chr2:25286991..25395829 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p23.3(chr2:24710112-25987357)x1 copy number loss not provided [RCV001005236] Chr2:24710112..25987357 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.283A>G (p.Ser95Gly) single nucleotide variant Obesity [RCV001140001]|Proopiomelanocortin deficiency [RCV001140000] Chr2:25161602 [GRCh38]
Chr2:25384471 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.618G>A (p.Glu206=) single nucleotide variant not provided [RCV000922957] Chr2:25161267 [GRCh38]
Chr2:25384136 [GRCh37]
Chr2:2p23.3
likely benign
NM_000939.4(POMC):c.583G>A (p.Ala195Thr) single nucleotide variant Proopiomelanocortin deficiency [RCV000986597]|not provided [RCV000889361] Chr2:25161302 [GRCh38]
Chr2:25384171 [GRCh37]
Chr2:2p23.3
benign|uncertain significance
NM_000939.4(POMC):c.26C>T (p.Ser9Leu) single nucleotide variant Obesity [RCV001263289] Chr2:25164747 [GRCh38]
Chr2:25387616 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.491C>T (p.Ala164Val) single nucleotide variant Obesity [RCV001137758]|Proopiomelanocortin deficiency [RCV001137759] Chr2:25161394 [GRCh38]
Chr2:25384263 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.116C>T (p.Thr39Met) single nucleotide variant Obesity [RCV001140756]|Proopiomelanocortin deficiency [RCV001140757] Chr2:25164657 [GRCh38]
Chr2:25387526 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.801G>A (p.Glu267=) single nucleotide variant Obesity [RCV001142522]|Proopiomelanocortin deficiency [RCV001142521] Chr2:25161084 [GRCh38]
Chr2:25383953 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.662A>G (p.Tyr221Cys) single nucleotide variant Obesity [RCV001142524]|Proopiomelanocortin deficiency [RCV001142523] Chr2:25161223 [GRCh38]
Chr2:25384092 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_000939.4(POMC):c.642G>A (p.Glu214=) single nucleotide variant Obesity [RCV001142525]|Proopiomelanocortin deficiency [RCV001142526] Chr2:25161243 [GRCh38]
Chr2:25384112 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_001035256.2(POMC):c.-263C>A single nucleotide variant Obesity [RCV001137865]|Proopiomelanocortin deficiency [RCV001137864] Chr2:25168690 [GRCh38]
Chr2:25391559 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.394C>G (p.Pro132Ala) single nucleotide variant Obesity [RCV001139998]|Proopiomelanocortin deficiency [RCV001139997] Chr2:25161491 [GRCh38]
Chr2:25384360 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.573del (p.Asp192fs) deletion Proopiomelanocortin deficiency [RCV001337101] Chr2:25161312 [GRCh38]
Chr2:25384181 [GRCh37]
Chr2:2p23.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9201 AgrOrtholog
COSMIC POMC COSMIC
Ensembl Genes ENSG00000115138 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264708 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370171 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379170 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384092 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000387993 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264708 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380794 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395826 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000405623 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000449220 UniProtKB/TrEMBL
GTEx ENSG00000115138 GTEx
HGNC ID HGNC:9201 ENTREZGENE
Human Proteome Map POMC Human Proteome Map
InterPro Mcrtin_ACTH_cent UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Melanocortin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Opioid_neuropept UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PMOC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5443 UniProtKB/Swiss-Prot
NCBI Gene 5443 ENTREZGENE
OMIM 176830 OMIM
  601665 OMIM
  609734 OMIM
Pfam ACTH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Op_neuropeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33526 PharmGKB, RGD
PRINTS MELANOCORTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ACTH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Op_neuropeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt COLI_HUMAN UniProtKB/Swiss-Prot
  E9PHK5_HUMAN UniProtKB/TrEMBL
  K7QX41_HUMAN UniProtKB/TrEMBL
  K7QX44_HUMAN UniProtKB/TrEMBL
  K7QX47_HUMAN UniProtKB/TrEMBL
  K7QX51_HUMAN UniProtKB/TrEMBL
  K7QZC2_HUMAN UniProtKB/TrEMBL
  K7QZC9_HUMAN UniProtKB/TrEMBL
  K7QZD2_HUMAN UniProtKB/TrEMBL
  K7R2I7_HUMAN UniProtKB/TrEMBL
  K7R2J5_HUMAN UniProtKB/TrEMBL
  K7R8V2_HUMAN UniProtKB/TrEMBL
  K7R8V7_HUMAN UniProtKB/TrEMBL
  K7R8W0_HUMAN UniProtKB/TrEMBL
  K7RMD8_HUMAN UniProtKB/TrEMBL
  K7RME8_HUMAN UniProtKB/TrEMBL
  K7RMF2_HUMAN UniProtKB/TrEMBL
  P01189 ENTREZGENE
  Q6FHC8_HUMAN UniProtKB/TrEMBL
  Q6LDP0_HUMAN UniProtKB/TrEMBL
UniProt Secondary P78442 UniProtKB/Swiss-Prot
  Q53T23 UniProtKB/Swiss-Prot
  Q9UD39 UniProtKB/Swiss-Prot
  Q9UD40 UniProtKB/Swiss-Prot