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:9201
Description: Enables 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. Located in 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
Previously 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
Candidate Gene For: BW207_H BW214_H SLEP5_H SLEP6_H SLEP8_H BW507_H INSUL1_H BW508_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38225,160,860 - 25,168,580 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl225,160,853 - 25,168,903 (-)EnsemblGRCh38hg38GRCh38
GRCh37225,383,729 - 25,391,449 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36225,237,226 - 25,245,063 (-)NCBINCBI36Build 36hg18NCBI36
Build 34225,295,438 - 25,303,103NCBI
Celera225,224,014 - 25,231,854 (-)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef225,121,466 - 25,129,306 (-)NCBIHuRef
CHM1_1225,313,607 - 25,321,447 (-)NCBICHM1_1
T2T-CHM13v2.0225,195,313 - 25,203,034 (-)NCBIT2T-CHM13v2.0
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)
alcohol dependence  (IAGP)
alcohol use disorder  (ISO)
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)
depressive disorder  (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 Arthritis  (ISO)
Experimental Liver Cirrhosis  (EXP)
eye disease  (EXP)
Eye Pain  (EXP)
facial paralysis  (EXP)
familial mediterranean fever  (IDA)
Femur Head Necrosis  (EXP)
Fever  (EXP)
gastrointestinal system disease  (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)
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,ISS)
Oliguria  (EXP)
opioid abuse  (ISO)
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  (EXP,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)
steatotic liver disease  (EXP)
stress-related disorder  (ISO)
subvalvular aortic stenosis  (EXP)
synovitis  (EXP)
Tatton-Brown-Rahman syndrome  (IAGP)
urinary tract infection  (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)
2,3-bis(4-hydroxyphenyl)propionitrile  (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  (EXP,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 alpha  (EXP)
aldehydo-D-glucose  (ISO)
aldosterone  (EXP,ISO)
all-trans-retinol  (ISO)
AM-251  (ISO)
ammonium chloride  (ISO)
apocynin  (ISO)
arachidonyl-2'-chloroethylamide  (ISO)
Aroclor 1254  (ISO)
aspartame  (EXP)
astressin 2B  (ISO)
atorvastatin calcium  (ISO)
atrazine  (ISO)
atropine  (ISO)
Aurothioglucose  (ISO)
benzo[a]pyrene  (EXP,ISO)
Benzylphosphonic acid  (ISO)
beta-hexachlorocyclohexane  (ISO)
bezafibrate  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromocriptine  (EXP,ISO)
bucladesine  (EXP)
buspirone  (EXP)
Butylparaben  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
cannabidiol  (ISO)
cannabigerol  (ISO)
capsaicin  (ISO)
capsazepine  (ISO)
carbamazepine  (EXP)
celecoxib  (ISO)
CGP 52608  (EXP)
chloroquine  (ISO)
chlorpyrifos  (EXP)
cisplatin  (ISO)
citalopram  (EXP)
clofibrate  (ISO)
clonidine  (EXP,ISO)
clonidine (amino form)  (EXP,ISO)
clonidine (imino form)  (EXP,ISO)
cobalt dichloride  (ISO)
cocaine  (EXP,ISO)
colforsin daropate hydrochloride  (ISO)
corticosterone  (ISO)
cortisol  (EXP)
CP-96345(1+)  (ISO)
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)
diethyl hydrogen phosphate  (ISO)
dimethyl sulfoxide  (ISO)
dinitrogen oxide  (ISO)
dioxygen  (ISO)
dipentyl phthalate  (ISO)
diprotium oxide  (ISO)
disodium cromoglycate  (ISO)
disulfiram  (ISO)
dizocilpine maleate  (ISO)
dodecane  (ISO)
dopachrome  (ISO)
dopamine  (ISO)
endosulfan  (ISO)
enzacamene  (ISO)
ethanol  (EXP,ISO)
ether  (ISO)
eticlopride(1+)  (ISO)
fentanyl  (EXP)
finasteride  (EXP)
fludrocortisone  (EXP)
fluoxetine  (ISO)
fomepizole  (EXP)
formaldehyde  (ISO)
fructose  (ISO)
fulvestrant  (EXP,ISO)
gamma-hexachlorocyclohexane  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glucose  (ISO)
Glutathione ethyl ester  (ISO)
glycerol  (EXP)
GTP  (EXP,ISO)
guanosine 5'-[beta,gamma-imido]triphosphate  (EXP,ISO)
halothane  (ISO)
herbicide  (ISO)
HET0016  (ISO)
imipramine  (EXP)
indometacin  (ISO)
isoprenaline  (ISO)
ketoconazole  (ISO)
lansoprazole  (EXP)
lead(0)  (EXP)
lidocaine  (ISO)
linsidomine  (ISO)
linuron  (ISO)
lipopolysaccharide  (ISO)
lithium atom  (EXP)
lithium hydride  (EXP)
loliolide  (ISO)
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)
Morroniside  (ISO)
muscimol  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (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,ISO)
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)
triadimefon  (ISO)
triamcinolone  (EXP)
triclosan  (EXP)
trilostane  (ISO)
triphenyl phosphate  (ISO)
triphenylstannane  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (ISO)
trovafloxacin  (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

References - curated
# Reference Title Reference Citation
1. The tripeptide KdPT protects from intestinal inflammation and maintains intestinal barrier function. Bettenworth D, etal., Am J Pathol. 2011 Sep;179(3):1230-42. Epub 2011 Jul 8.
2. Proopiomelanocortin gene variants are associated with serum leptin and body fat in a normal female population. Chen Y, etal., Eur J Hum Genet. 2005 Jun;13(6):772-80.
3. Opioid system genes in alcoholism: a case-control study in Croatian population. Cupic B, etal., Neuropeptides. 2013 Oct;47(5):315-9. doi: 10.1016/j.npep.2013.08.002. Epub 2013 Aug 28.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. The expression of opioid genes in non-classical reward areas depends on early life conditions and ethanol intake. Granholm L, etal., Brain Res. 2017 Aug 1;1668:36-45. doi: 10.1016/j.brainres.2017.05.006. Epub 2017 May 13.
6. Antiinflammatory activity of a COOH-terminal fragment of the neuropeptide alpha-MSH. Hiltz ME and Lipton JM, FASEB J. 1989 Sep;3(11):2282-4.
7. Spatial and temporal localization of the melanocortin 1 receptor and its ligand alpha-melanocyte-stimulating hormone during cutaneous wound repair. Muffley LA, etal., J Histochem Cytochem. 2011 Mar;59(3):278-88. Epub 2011 Jan 12.
8. Decreased immunoreactivity of the melanocortin neuropeptide alpha-melanocyte-stimulating hormone (alpha-MSH) after chronic ethanol exposure in Sprague-Dawley rats. Navarro M, etal., Alcohol Clin Exp Res. 2008 Feb;32(2):266-76. doi: 10.1111/j.1530-0277.2007.00578.x. Epub 2007 Dec 21.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
11. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
12. Pro-opiomelanocortin processing in the hypothalamus: impact on melanocortin signalling and obesity. Pritchard LE, etal., J Endocrinol 2002 Mar;172(3):411-21.
13. alpha-MSH modulates experimental inflammatory bowel disease. Rajora N, etal., Peptides. 1997;18(3):381-5.
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. An insertional polymorphism of the proopiomelanocortin gene is associated with fasting insulin levels in childhood obesity. Santoro N, etal., J Clin Endocrinol Metab. 2004 Oct;89(10):4846-9.
18. The critical role of the melanocortin system in the control of energy balance. Seeley RJ, etal., Annu Rev Nutr 2004;24:133-49.
19. Differential cross-tolerance development between single and repeated immobilization stress on the antinociceptive effect induced by beta-endorphin, 5-hydroxytryptamine, morphine, and WIN55,212-2 in the inflammatory mouse pain mode. Seo YJ, etal., Arch Pharm Res. 2011 Feb;34(2):269-80. Epub 2011 Mar 6.
20. Inhibition of cartilage damage by pro-opiomelanocortin prohormone overexpression in a rat model of osteoarthritis. Shen PC, etal., Exp Biol Med (Maywood). 2011 Mar 1;236(3):334-40. Epub 2011 Mar 4.
21. Neuroendocrine immune system in familial Mediterranean fever. Topaloglu R, etal., Turk J Pediatr. 2010 Nov-Dec;52(6):588-93.
22. Endocrine cells of the adenohypophysis in severe acute respiratory syndrome (SARS). Wei L, etal., Biochem Cell Biol. 2010 Aug;88(4):723-30. doi: 10.1139/O10-022.
23. Chronic Oxycodone Self-administration Altered Reward-related Genes in the Ventral and Dorsal Striatum of C57BL/6J Mice: An RNA-seq Analysis. Zhang Y, etal., Neuroscience. 2018 Nov 21;393:333-349. doi: 10.1016/j.neuroscience.2018.07.032. Epub 2018 Jul 29.
24. Analgesic effect of different moxibustion durations in rheumatoid arthritis rats. Zheng B, etal., J Tradit Chin Med. 2014 Feb;34(1):90-5. doi: 10.1016/s0254-6272(14)60060-1.
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:32506501   PMID:32578125   PMID:32705506   PMID:32961416   PMID:33043745   PMID:33046908  
PMID:33389158   PMID:33460671   PMID:33462216   PMID:33765043   PMID:33961781   PMID:34061962   PMID:34418053   PMID:34716471   PMID:34905765   PMID:35521707   PMID:35737586   PMID:35775692  
PMID:35974370   PMID:36374777   PMID:36402174   PMID:36864747   PMID:37092539   PMID:37142649   PMID:37352903   PMID:37396180   PMID:37608347   PMID:37843327   PMID:37877973   PMID:38418395  


Genomics

Comparative Map Data
POMC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38225,160,860 - 25,168,580 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl225,160,853 - 25,168,903 (-)EnsemblGRCh38hg38GRCh38
GRCh37225,383,729 - 25,391,449 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36225,237,226 - 25,245,063 (-)NCBINCBI36Build 36hg18NCBI36
Build 34225,295,438 - 25,303,103NCBI
Celera225,224,014 - 25,231,854 (-)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef225,121,466 - 25,129,306 (-)NCBIHuRef
CHM1_1225,313,607 - 25,321,447 (-)NCBICHM1_1
T2T-CHM13v2.0225,195,313 - 25,203,034 (-)NCBIT2T-CHM13v2.0
Pomc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39124,004,945 - 4,010,643 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl124,004,951 - 4,010,642 (+)EnsemblGRCm39 Ensembl
GRCm38123,954,945 - 3,960,643 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl123,954,951 - 3,960,642 (+)EnsemblGRCm38mm10GRCm38
MGSCv37123,954,951 - 3,960,618 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36123,954,967 - 3,960,634 (+)NCBIMGSCv36mm8
Celera123,882,694 - 3,888,357 (+)NCBICelera
Cytogenetic Map12A1.1NCBI
cM Map121.99NCBI
Pomc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8632,659,137 - 32,665,175 (+)NCBIGRCr8
mRatBN7.2626,939,844 - 26,945,666 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl626,939,837 - 26,945,664 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx627,232,130 - 27,237,950 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0627,548,037 - 27,553,857 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0627,026,040 - 27,031,858 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0628,382,937 - 28,388,771 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl628,382,962 - 28,388,967 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0638,191,989 - 38,197,809 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4626,931,969 - 26,937,789 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v212101,353,171 - 101,357,103 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A101,357,136 - 101,361,068 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A25,161,668 - 25,165,600 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A25,258,768 - 25,266,806 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A25,258,768 - 25,262,706 (-)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01719,706,608 - 19,713,398 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1719,706,796 - 19,714,128 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11719,440,669 - 19,447,445 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01719,450,362 - 19,457,130 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01719,496,844 - 19,503,629 (-)NCBIUU_Cfam_GSD_1.0
Pomc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629263,774,289 - 63,781,377 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364937,061,587 - 7,065,109 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364937,060,747 - 7,065,276 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POMC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3113,661,004 - 113,670,418 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13113,661,712 - 113,668,558 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23120,766,352 - 120,772,976 (+)NCBISscrofa10.2Sscrofa10.2susScr3
POMC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11482,491,296 - 82,499,289 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1482,494,323 - 82,499,447 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604529,662,185 - 29,670,382 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pomc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247387,442,292 - 7,445,020 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247387,442,223 - 7,448,513 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in POMC
80 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000939.4(POMC):c.429C>G (p.His143Gln) single nucleotide variant Obesity [RCV001139995]|Obesity due to pro-opiomelanocortin 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 Obesity due to pro-opiomelanocortin deficiency [RCV000014282] Chr2:25161452 [GRCh38]
Chr2:25384321 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000939.4(POMC):c.-11C>A single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV000014283]|Obesity due to pro-opiomelanocortin deficiency [RCV002482865] Chr2:25164783 [GRCh38]
Chr2:25387652 [GRCh37]
Chr2:2p23.3
pathogenic
NM_000939.4(POMC):c.403_404dup (p.Lys136fs) duplication Obesity due to pro-opiomelanocortin deficiency [RCV000014285] Chr2:25161480..25161481 [GRCh38]
Chr2:25384349..25384350 [GRCh37]
Chr2:2p23.3
pathogenic
POMC, 1-BP DEL, NT6996 deletion Obesity due to pro-opiomelanocortin 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.280AGCAGCGGC[4] (p.94SSG[4]) microsatellite Obesity due to pro-opiomelanocortin deficiency [RCV003227844]|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 Obesity due to pro-opiomelanocortin 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 due to pro-opiomelanocortin deficiency [RCV000986596]|Obesity due to pro-opiomelanocortin deficiency [RCV003227601]|Obesity, early-onset, susceptibility to [RCV000014284]|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 Obesity due to pro-opiomelanocortin 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.280AGCAGCGGC[3] (p.94SSG[3]) microsatellite Monogenic Non-Syndromic Obesity [RCV000284681]|Obesity due to pro-opiomelanocortin deficiency [RCV000376949]|not provided [RCV001640289]|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]|Obesity due to pro-opiomelanocortin 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]|Obesity due to pro-opiomelanocortin 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]|Obesity due to pro-opiomelanocortin 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]|Obesity due to pro-opiomelanocortin deficiency [RCV000329597]|not provided [RCV001660697] 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]|Obesity due to pro-opiomelanocortin deficiency [RCV000371673]|not provided [RCV001683340] 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]|Obesity due to pro-opiomelanocortin deficiency [RCV000288152]|Obesity due to pro-opiomelanocortin deficiency [RCV002467762]|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]|Obesity due to pro-opiomelanocortin deficiency [RCV000341979]|not provided [RCV001707661] 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]|Obesity due to pro-opiomelanocortin 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]|Obesity due to pro-opiomelanocortin deficiency [RCV000310805]|not provided [RCV000948593]|not specified [RCV003151034] 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]|Obesity due to pro-opiomelanocortin 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]|Obesity due to pro-opiomelanocortin 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]|Obesity due to pro-opiomelanocortin 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]|POMC-related condition [RCV003411470] Chr2:25164752..25164753 [GRCh38]
Chr2:25387621..25387622 [GRCh37]
Chr2:2p23.3
pathogenic|likely 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.Ala201_Gln202insArgAla) 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 Obesity due to pro-opiomelanocortin 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 Obesity due to pro-opiomelanocortin deficiency [RCV000584754] Chr2:2p23.3 pathogenic
GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3 copy number gain Seizure [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.133-212A>G single nucleotide variant not provided [RCV001693256] Chr2:25161964 [GRCh38]
Chr2:25384833 [GRCh37]
Chr2:2p23.3
benign
NM_000939.4(POMC):c.599G>T (p.Gly200Val) single nucleotide variant Inborn genetic diseases [RCV003268497] Chr2:25161286 [GRCh38]
Chr2:25384155 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.433C>T (p.Arg145Cys) single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV002501010]|POMC-Related Disorders [RCV000778607]|POMC-related condition [RCV003392590]|not provided [RCV003442068] Chr2:25161452 [GRCh38]
Chr2:25384321 [GRCh37]
Chr2:2p23.3
likely pathogenic|uncertain significance
NM_000939.4(POMC):c.261C>A (p.Phe87Leu) single nucleotide variant Obesity [RCV001140754]|Obesity due to pro-opiomelanocortin deficiency [RCV001140755]|not provided [RCV000882548]|not specified [RCV001817082] 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]|not specified [RCV001818763] 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 Obesity due to pro-opiomelanocortin 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]|Obesity due to pro-opiomelanocortin deficiency [RCV001137756]|not provided [RCV002556933] Chr2:25161387 [GRCh38]
Chr2:25384256 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
NM_000939.4(POMC):c.638C>T (p.Ala213Val) single nucleotide variant Obesity [RCV001137755]|Obesity due to pro-opiomelanocortin deficiency [RCV001142528] Chr2:25161247 [GRCh38]
Chr2:25384116 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.416dup (p.Tyr139Ter) duplication Obesity due to pro-opiomelanocortin 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]|Obesity due to pro-opiomelanocortin deficiency [RCV001140000]|Obesity due to pro-opiomelanocortin deficiency [RCV002480521] Chr2:25161602 [GRCh38]
Chr2:25384471 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.132+329A>C single nucleotide variant not provided [RCV001670830] Chr2:25164312 [GRCh38]
Chr2:25387181 [GRCh37]
Chr2:2p23.3
benign
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21
pathogenic
NM_000939.4(POMC):c.-20-198_-20-197insGGT insertion not provided [RCV001682126] Chr2:25164989..25164990 [GRCh38]
Chr2:25387858..25387859 [GRCh37]
Chr2:2p23.3
benign
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21
likely pathogenic
NM_000939.4(POMC):c.133-84A>G single nucleotide variant not provided [RCV001678009] Chr2:25161836 [GRCh38]
Chr2:25384705 [GRCh37]
Chr2:2p23.3
benign
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 Obesity due to pro-opiomelanocortin deficiency [RCV000986597]|Obesity due to pro-opiomelanocortin deficiency [RCV003227875]|not provided [RCV000889361]|not specified [RCV001818652] Chr2:25161302 [GRCh38]
Chr2:25384171 [GRCh37]
Chr2:2p23.3
benign|likely benign|conflicting interpretations of pathogenicity|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]|Obesity due to pro-opiomelanocortin deficiency [RCV001137759]|Obesity due to pro-opiomelanocortin deficiency [RCV002482261] 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]|Obesity due to pro-opiomelanocortin 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]|Obesity due to pro-opiomelanocortin 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]|Obesity due to pro-opiomelanocortin deficiency [RCV001142523]|POMC-related condition [RCV003396768]|not provided [RCV001759902] 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]|Obesity due to pro-opiomelanocortin 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]|Obesity due to pro-opiomelanocortin 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]|Obesity due to pro-opiomelanocortin deficiency [RCV001139997]|POMC-related condition [RCV003413947]|not provided [RCV001580566]|not specified [RCV001819845] Chr2:25161491 [GRCh38]
Chr2:25384360 [GRCh37]
Chr2:2p23.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000939.4(POMC):c.573del (p.Asp192fs) deletion POMC-related condition [RCV003418761] Chr2:25161312 [GRCh38]
Chr2:25384181 [GRCh37]
Chr2:2p23.3
pathogenic|uncertain significance
NM_000939.4(POMC):c.297_298insA (p.Ala100fs) insertion not provided [RCV003238654] Chr2:25161587..25161588 [GRCh38]
Chr2:25384456..25384457 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.221C>A (p.Pro74His) single nucleotide variant not provided [RCV001768354] Chr2:25161664 [GRCh38]
Chr2:25384533 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.169G>A (p.Glu57Lys) single nucleotide variant not provided [RCV001776963] Chr2:25161716 [GRCh38]
Chr2:25384585 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.34del (p.Leu12fs) deletion not provided [RCV001817904] Chr2:25164739 [GRCh38]
Chr2:25387608 [GRCh37]
Chr2:2p23.3
pathogenic
GRCh37/hg19 2p23.3(chr2:25380572-25524722)x1 copy number loss not provided [RCV001827618] Chr2:25380572..25524722 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.434G>A (p.Arg145His) single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV002490040]|not provided [RCV001874388] Chr2:25161451 [GRCh38]
Chr2:25384320 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.180del (p.Met60fs) deletion Obesity [RCV001823844] Chr2:25161705 [GRCh38]
Chr2:25384574 [GRCh37]
Chr2:2p23.3
likely pathogenic
NC_000002.11:g.(?_24443763)_(27746306_?)dup duplication Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001911738] Chr2:24443763..27746306 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.255C>G (p.Asp85Glu) single nucleotide variant POMC-related condition [RCV003416617]|not provided [RCV001957555] Chr2:25161630 [GRCh38]
Chr2:25384499 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.285_286insAGCAGCAGCGGCAGCAGC (p.94_95S[5]GSS[1]) microsatellite not provided [RCV001903187] Chr2:25161599..25161600 [GRCh38]
Chr2:25384468..25384469 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.314A>G (p.Glu105Gly) single nucleotide variant not provided [RCV002224167] Chr2:25161571 [GRCh38]
Chr2:25384440 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.798C>T (p.Gly266=) single nucleotide variant not provided [RCV002210064] Chr2:25161087 [GRCh38]
Chr2:25383956 [GRCh37]
Chr2:2p23.3
likely benign
NM_000939.4(POMC):c.499G>T (p.Glu167Ter) single nucleotide variant not provided [RCV002224413] Chr2:25161386 [GRCh38]
Chr2:25384255 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.144G>C (p.Arg48=) single nucleotide variant not provided [RCV002081576] Chr2:25161741 [GRCh38]
Chr2:25384610 [GRCh37]
Chr2:2p23.3
likely benign
NM_000939.4(POMC):c.285C>T (p.Ser95=) single nucleotide variant not provided [RCV002176075] Chr2:25161600 [GRCh38]
Chr2:25384469 [GRCh37]
Chr2:2p23.3
likely benign
NC_000002.11:g.(?_24443763)_(26029226_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003113869] Chr2:24443763..26029226 [GRCh37]
Chr2:2p23.3
pathogenic
NC_000002.11:g.(?_24443763)_(29022169_?)dup duplication Tatton-Brown-Rahman overgrowth syndrome [RCV003113871]|not provided [RCV003113870] Chr2:24443763..29022169 [GRCh37]
Chr2:2p23.3-23.2
uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_24443763)_(30143525_?)dup duplication not provided [RCV003113441] Chr2:24443763..30143525 [GRCh37]
Chr2:2p23.3-23.1
uncertain significance
NC_000002.11:g.(?_25383950)_(25523132_?)del deletion Tatton-Brown-Rahman overgrowth syndrome [RCV003122365]|not provided [RCV003122366] Chr2:25383950..25523132 [GRCh37]
Chr2:2p23.3
pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1 copy number loss 2p24.1p23.3 microdeletion syndrome [RCV002247168] Chr2:22439520..25608211 [GRCh37]
Chr2:2p24.1-23.3
pathogenic|likely pathogenic
GRCh37/hg19 2p23.3(chr2:24653863-25574264)x1 copy number loss not provided [RCV002265531] Chr2:24653863..25574264 [GRCh37]
Chr2:2p23.3
not provided
NM_000939.4(POMC):c.-21+1G>A single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV002285116] Chr2:25168497 [GRCh38]
Chr2:25391366 [GRCh37]
Chr2:2p23.3
pathogenic
GRCh37/hg19 2p23.3(chr2:24641638-26473160)x1 copy number loss Tatton-Brown-Rahman overgrowth syndrome [RCV002276513] Chr2:24641638..26473160 [GRCh37]
Chr2:2p23.3
not provided
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic
GRCh37/hg19 2p23.3(chr2:25163058-25461523)x3 copy number gain not provided [RCV002473449] Chr2:25163058..25461523 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.389C>T (p.Pro130Leu) single nucleotide variant Inborn genetic diseases [RCV003287394] Chr2:25161496 [GRCh38]
Chr2:25384365 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3
pathogenic
NM_000939.4(POMC):c.334G>T (p.Asp112Tyr) single nucleotide variant Inborn genetic diseases [RCV002777220] Chr2:25161551 [GRCh38]
Chr2:25384420 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.280A>G (p.Ser94Gly) single nucleotide variant not provided [RCV002996177] Chr2:25161605 [GRCh38]
Chr2:25384474 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.74G>A (p.Arg25His) single nucleotide variant Inborn genetic diseases [RCV002794113] Chr2:25164699 [GRCh38]
Chr2:25387568 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.299C>G (p.Ala100Gly) single nucleotide variant not provided [RCV002730241] Chr2:25161586 [GRCh38]
Chr2:25384455 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.557G>A (p.Arg186Gln) single nucleotide variant not provided [RCV002756899] Chr2:25161328 [GRCh38]
Chr2:25384197 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.280AGCAGCGGC[11] (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly) microsatellite not provided [RCV003100213] Chr2:25161587..25161588 [GRCh38]
Chr2:25384456..25384457 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.693G>A (p.Pro231=) single nucleotide variant not provided [RCV002638975] Chr2:25161192 [GRCh38]
Chr2:25384061 [GRCh37]
Chr2:2p23.3
likely benign
NM_000939.4(POMC):c.416A>G (p.Tyr139Cys) single nucleotide variant not provided [RCV002510232] Chr2:25161469 [GRCh38]
Chr2:25384338 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.716G>A (p.Gly239Asp) single nucleotide variant not provided [RCV002998884] Chr2:25161169 [GRCh38]
Chr2:25384038 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.442A>G (p.Lys148Glu) single nucleotide variant Inborn genetic diseases [RCV002767775] Chr2:25161443 [GRCh38]
Chr2:25384312 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.745C>T (p.Pro249Ser) single nucleotide variant not provided [RCV002957415] Chr2:25161140 [GRCh38]
Chr2:25384009 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.283_284delinsCC (p.Ser95Pro) indel not provided [RCV003043520] Chr2:25161601..25161602 [GRCh38]
Chr2:25384470..25384471 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.599G>A (p.Gly200Glu) single nucleotide variant not provided [RCV002811458] Chr2:25161286 [GRCh38]
Chr2:25384155 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.271A>C (p.Asn91His) single nucleotide variant Inborn genetic diseases [RCV002836218] Chr2:25161614 [GRCh38]
Chr2:25384483 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.274AGC[7] (p.Ser95_Gly96insSerSerSer) microsatellite not provided [RCV002937820] Chr2:25161599..25161600 [GRCh38]
Chr2:25384468..25384469 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.310C>A (p.Arg104Ser) single nucleotide variant Inborn genetic diseases [RCV002835905] Chr2:25161575 [GRCh38]
Chr2:25384444 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.176C>T (p.Pro59Leu) single nucleotide variant not provided [RCV003061531] Chr2:25161709 [GRCh38]
Chr2:25384578 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.147C>T (p.Ala49=) single nucleotide variant not provided [RCV002634768] Chr2:25161738 [GRCh38]
Chr2:25384607 [GRCh37]
Chr2:2p23.3
likely benign
NM_000939.4(POMC):c.280AGCAGCGGC[12] (p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly) microsatellite not provided [RCV003067205] Chr2:25161587..25161588 [GRCh38]
Chr2:25384456..25384457 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p23.3(chr2:24962301-26257604)x1 copy number loss not provided [RCV003223075] Chr2:24962301..26257604 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.-21+8C>A single nucleotide variant Inherited obesity [RCV003228568] Chr2:25168490 [GRCh38]
Chr2:25391359 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.710A>G (p.Tyr237Cys) single nucleotide variant not provided [RCV003228298] Chr2:25161175 [GRCh38]
Chr2:25384044 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.73C>T (p.Arg25Cys) single nucleotide variant Inherited obesity [RCV003322665] Chr2:25164700 [GRCh38]
Chr2:25387569 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.-20-675A>G single nucleotide variant Obesity due to pro-opiomelanocortin deficiency [RCV003336011] Chr2:25165467 [GRCh38]
Chr2:25388336 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.518C>G (p.Pro173Arg) single nucleotide variant Inborn genetic diseases [RCV003374602] Chr2:25161367 [GRCh38]
Chr2:25384236 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.125A>G (p.Asn42Ser) single nucleotide variant POMC-related condition [RCV003418842] Chr2:25164648 [GRCh38]
Chr2:25387517 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.284G>A (p.Ser95Asn) single nucleotide variant POMC-related condition [RCV003419213] Chr2:25161601 [GRCh38]
Chr2:25384470 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.112A>T (p.Thr38Ser) single nucleotide variant POMC-related condition [RCV003405949] Chr2:25164661 [GRCh38]
Chr2:25387530 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.272A>G (p.Asn91Ser) single nucleotide variant POMC-related condition [RCV003427854] Chr2:25161613 [GRCh38]
Chr2:25384482 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.244T>G (p.Phe82Val) single nucleotide variant POMC-related condition [RCV003422425] Chr2:25161641 [GRCh38]
Chr2:25384510 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.100T>C (p.Cys34Arg) single nucleotide variant POMC-related condition [RCV003412064] Chr2:25164673 [GRCh38]
Chr2:25387542 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.198C>G (p.Asp66Glu) single nucleotide variant POMC-related condition [RCV003408699] Chr2:25161687 [GRCh38]
Chr2:25384556 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.668T>C (p.Met223Thr) single nucleotide variant POMC-related condition [RCV003420769] Chr2:25161217 [GRCh38]
Chr2:25384086 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.117G>A (p.Thr39=) single nucleotide variant POMC-related condition [RCV003392744] Chr2:25164656 [GRCh38]
Chr2:25387525 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.602C>T (p.Ala201Val) single nucleotide variant POMC-related condition [RCV003392780] Chr2:25161283 [GRCh38]
Chr2:25384152 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.626T>C (p.Leu209Pro) single nucleotide variant POMC-related condition [RCV003417119] Chr2:25161259 [GRCh38]
Chr2:25384128 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_000939.4(POMC):c.492C>T (p.Ala164=) single nucleotide variant not provided [RCV003877088] Chr2:25161393 [GRCh38]
Chr2:25384262 [GRCh37]
Chr2:2p23.3
likely benign
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.

Markers in Region
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


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
  CP068276 (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
  LC778517 (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

RefSeq Acc Id: ENST00000264708   ⟹   ENSP00000264708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,160,985 - 25,168,571 (-)Ensembl
RefSeq Acc Id: ENST00000380794   ⟹   ENSP00000370171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,160,853 - 25,168,690 (-)Ensembl
RefSeq Acc Id: ENST00000395826   ⟹   ENSP00000379170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,160,860 - 25,168,580 (-)Ensembl
RefSeq Acc Id: ENST00000405623   ⟹   ENSP00000384092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl225,160,915 - 25,168,903 (-)Ensembl
RefSeq Acc Id: ENST00000449220   ⟹   ENSP00000387993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0225,195,313 - 25,203,034 (-)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
T2T-CHM13v2.0225,195,313 - 25,203,034 (-)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
T2T-CHM13v2.0225,195,313 - 25,203,034 (-)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
T2T-CHM13v2.0225,195,313 - 25,203,034 (-)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  
  BES79389 (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  
Ensembl Protein ENSP00000264708
  ENSP00000264708.3
  ENSP00000370171
  ENSP00000370171.1
  ENSP00000379170
  ENSP00000379170.2
  ENSP00000384092
  ENSP00000384092.1
  ENSP00000387993.1
GenBank Protein P01189 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000930   ⟸   NM_000939
- Peptide Label: preproprotein
- UniProtKB: Q9UD39 (UniProtKB/Swiss-Prot),   Q53T23 (UniProtKB/Swiss-Prot),   P78442 (UniProtKB/Swiss-Prot),   Q9UD40 (UniProtKB/Swiss-Prot),   P01189 (UniProtKB/Swiss-Prot),   Q5TZZ7 (UniProtKB/TrEMBL),   Q6FHC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001030333   ⟸   NM_001035256
- Peptide Label: preproprotein
- UniProtKB: Q9UD39 (UniProtKB/Swiss-Prot),   Q53T23 (UniProtKB/Swiss-Prot),   P78442 (UniProtKB/Swiss-Prot),   Q9UD40 (UniProtKB/Swiss-Prot),   P01189 (UniProtKB/Swiss-Prot),   Q5TZZ7 (UniProtKB/TrEMBL),   Q6FHC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001306134   ⟸   NM_001319205
- Peptide Label: preproprotein
- UniProtKB: Q9UD39 (UniProtKB/Swiss-Prot),   Q53T23 (UniProtKB/Swiss-Prot),   P78442 (UniProtKB/Swiss-Prot),   Q9UD40 (UniProtKB/Swiss-Prot),   P01189 (UniProtKB/Swiss-Prot),   Q5TZZ7 (UniProtKB/TrEMBL),   Q6FHC8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001306133   ⟸   NM_001319204
- Peptide Label: preproprotein
- UniProtKB: Q9UD39 (UniProtKB/Swiss-Prot),   Q53T23 (UniProtKB/Swiss-Prot),   P78442 (UniProtKB/Swiss-Prot),   Q9UD40 (UniProtKB/Swiss-Prot),   P01189 (UniProtKB/Swiss-Prot),   Q5TZZ7 (UniProtKB/TrEMBL),   Q6FHC8 (UniProtKB/TrEMBL)
- 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 Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01189-F1-model_v2 AlphaFold P01189 1-267 view protein structure

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

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 Transcript ENST00000264708 ENTREZGENE
  ENST00000264708.7 UniProtKB/Swiss-Prot
  ENST00000380794 ENTREZGENE
  ENST00000380794.5 UniProtKB/Swiss-Prot
  ENST00000395826 ENTREZGENE
  ENST00000395826.7 UniProtKB/Swiss-Prot
  ENST00000405623 ENTREZGENE
  ENST00000405623.5 UniProtKB/Swiss-Prot
  ENST00000449220.1 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
PANTHER PRO-OPIOMELANOCORTIN UniProtKB/Swiss-Prot
  PRO-OPIOMELANOCORTIN UniProtKB/Swiss-Prot
  PRO-OPIOMELANOCORTIN UniProtKB/TrEMBL
  PRO-OPIOMELANOCORTIN UniProtKB/TrEMBL
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
  P78442 ENTREZGENE
  Q53T23 ENTREZGENE
  Q5TZZ7 ENTREZGENE, UniProtKB/TrEMBL
  Q6FHC8 ENTREZGENE, UniProtKB/TrEMBL
  Q6LDP0_HUMAN UniProtKB/TrEMBL
  Q9UD39 ENTREZGENE
  Q9UD40 ENTREZGENE
UniProt Secondary P78442 UniProtKB/Swiss-Prot
  Q53T23 UniProtKB/Swiss-Prot
  Q9UD39 UniProtKB/Swiss-Prot
  Q9UD40 UniProtKB/Swiss-Prot