UCP2 (uncoupling protein 2) - Rat Genome Database

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Gene: UCP2 (uncoupling protein 2) Homo sapiens
Analyze
Symbol: UCP2
Name: uncoupling protein 2
RGD ID: 69170
HGNC Page HGNC:12518
Description: Enables several functions, including C4-dicarboxylate transmembrane transporter activity; inorganic anion transmembrane transporter activity; and protein homodimerization activity. Involved in several processes, including C4-dicarboxylate transport; carboxylic acid metabolic process; and response to hypoxia. Located in mitochondrion. Implicated in carotid artery disease; diabetic neuropathy; end stage renal disease; hypertension; and obesity. Biomarker of Huntington's disease and metabolic dysfunction-associated steatotic liver disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BMIQ4; body mass index quantitative trait 4; dicarboxylate carrier SLC25A8; mitochondrial uncoupling protein 2; SLC25A8; solute carrier family 25 member 8; UCP 2; UCPH; uncoupling protein 2 (mitochondrial, proton carrier)
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
Is Marker For: QTLs:   BW64_H  
Candidate Gene For: BW329_H BW447_H BW452_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381173,974,672 - 73,983,202 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1173,974,672 - 73,982,843 (-)EnsemblGRCh38hg38GRCh38
GRCh371173,685,717 - 73,694,247 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361173,363,364 - 73,371,537 (-)NCBINCBI36Build 36hg18NCBI36
Build 341173,363,363 - 73,371,537NCBI
Celera1170,992,461 - 71,000,634 (-)NCBICelera
Cytogenetic Map11q13.4NCBI
HuRef1169,981,482 - 69,989,655 (-)NCBIHuRef
CHM1_11173,569,569 - 73,577,739 (-)NCBICHM1_1
T2T-CHM13v2.01173,903,817 - 73,912,347 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(1->4)-beta-D-glucan  (ISO)
(R)-lipoic acid  (ISO)
(R)-noradrenaline  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-bromohexadecanoic acid  (ISO)
2-methylcholine  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-[3-(tert-butylsulfanyl)-1-(4-chlorobenzyl)-5-(propan-2-yl)-1H-indol-2-yl]-2,2-dimethylpropanoic acid  (ISO)
3-hydroxybutyric acid  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxy-TEMPO  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
5-methyl-4-oxido-2-pyrazin-4-iumcarboxylic acid  (EXP)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
Aflatoxin B2 alpha  (EXP)
AICA ribonucleotide  (ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-linolenic acid  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antimycin A  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
aspartame  (ISO)
ATP  (EXP,ISO)
atrazine  (EXP,ISO)
Bardoxolone methyl  (ISO)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
berberine  (ISO)
beta-D-glucosamine  (ISO)
bexarotene  (EXP)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
candesartan  (ISO)
capsaicin  (EXP,ISO)
carbamazepine  (EXP)
Carbaprostacyclin  (ISO)
carbon monoxide  (ISO)
carbon nanotube  (ISO)
cerium trichloride  (EXP)
chlormequat chloride  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
ciglitazone  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP,ISO)
Cuprizon  (ISO)
cyanides  (ISO)
cyanidin cation  (ISO)
cyclosporin A  (EXP)
D-glucose  (EXP,ISO)
DDE  (ISO)
dehydroepiandrosterone  (ISO)
desferrioxamine B  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
diethyldithiocarbamic acid  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP,ISO)
diquat  (ISO)
disodium selenite  (ISO)
diuron  (EXP)
doxorubicin  (EXP,ISO)
ebselen  (ISO)
edaravone  (ISO)
enniatin  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
etoposide  (EXP)
fenofibrate  (EXP,ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
furan  (ISO)
Fusaric acid  (EXP)
gadolinium trichloride  (ISO)
Ganoderic acid A  (ISO)
gentamycin  (ISO)
geraniol  (ISO)
glucose  (EXP,ISO)
glutathione  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
GW 501516  (ISO)
hexadecanoic acid  (EXP,ISO)
histamine  (EXP,ISO)
hydrogen peroxide  (ISO)
hydrogen sulfide  (ISO)
hydroxytyrosol  (ISO)
indometacin  (EXP)
indoxyl sulfate  (ISO)
inulin  (ISO)
isoprenaline  (ISO)
L-methionine  (ISO)
lactacystin  (ISO)
lead(0)  (EXP)
lenvatinib  (ISO)
lidocaine  (ISO)
linalool  (EXP,ISO)
linoleic acid  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
losartan  (ISO)
lovastatin  (ISO)
menadione  (EXP)
metformin  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
methylarsonic acid  (ISO)
methylmercury chloride  (ISO)
monosodium L-glutamate  (ISO)
Muraglitazar  (ISO)
myxothiazol  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
naringin  (ISO)
nickel atom  (EXP)
nicotinamide  (ISO)
NMN zwitterion  (ISO)
Nonylphenol  (ISO)
ochratoxin A  (EXP,ISO)
okadaic acid  (ISO)
oleic acid  (ISO)
oltipraz  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorodecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylhydrazine  (ISO)
picrotoxin  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium cyanide  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
propiconazole  (ISO)
prostaglandin D2  (ISO)
puerarin  (ISO)
Pyridostigmine bromide  (ISO)
quercetin  (EXP,ISO)
reactive oxygen species  (EXP,ISO)
resveratrol  (ISO)
rotenone  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium benzoate  (ISO)
Soman  (ISO)
stavudine  (EXP)
streptozocin  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
superoxide  (EXP,ISO)
T-2 toxin  (ISO)
tamoxifen  (ISO)
telmisartan  (ISO)
Tesaglitazar  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thiazolidinediones  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
thyroxine  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (ISO)
trilobatin  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vincristine  (EXP)
vitamin E  (ISO)
zaragozic acid A  (ISO)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adaptive thermogenesis  (IBA,IEA)
C4-dicarboxylate transport  (IMP)
cellular response to amino acid starvation  (IEA,ISO)
cellular response to glucose stimulus  (IEA,ISO,ISS)
cellular response to hormone stimulus  (IEA,ISO)
cellular response to insulin stimulus  (IEA,ISO)
cellular response to lead ion  (IEA,ISO)
chloride transmembrane transport  (IEA)
glutamine metabolic process  (IMP)
glycolytic process  (IMP)
L-aspartate transmembrane transport  (IEA)
liver regeneration  (IEA,ISO)
long-chain fatty acid transport  (IEA)
macrophage differentiation  (IEA,ISS)
malate transmembrane transport  (IEA)
mitochondrial fission  (IEA,ISS)
mitochondrial transmembrane transport  (IBA,IEA,IMP)
mitochondrial transport  (IEA,ISO)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of insulin secretion involved in cellular response to glucose stimulus  (IEA,ISO)
negative regulation of neuron apoptotic process  (IEA,ISO)
oxaloacetate(2-) transmembrane transport  (IEA)
phosphate ion transmembrane transport  (IEA)
positive regulation of cold-induced thermogenesis  (IEA,ISS)
positive regulation of response to biotic stimulus  (ISO)
proton transmembrane transport  (TAS)
reactive oxygen species metabolic process  (IEA,ISS)
regulation of mitochondrial membrane potential  (IEA)
response to cold  (IBA,IEA)
response to dexamethasone  (IEA,ISO)
response to fatty acid  (IEA,ISO)
response to glucose  (IEA,ISO)
response to hypoxia  (IDA,IEA,ISO)
response to superoxide  (IEA,ISO)
sulfate transmembrane transport  (IEA)
transmembrane transport  (IEA)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Disruption of the uncoupling protein-2 gene in mice reveals a role in immunity and reactive oxygen species production. Arsenijevic D, etal., Nat Genet 2000 Dec;26(4):435-9.
2. Uncoupling protein downregulation in doxorubicin-induced heart failure improves mitochondrial coupling but increases reactive oxygen species generation. Bugger H, etal., Cancer Chemother Pharmacol. 2011 Jun;67(6):1381-8. doi: 10.1007/s00280-010-1441-7. Epub 2010 Aug 31.
3. Overexpression of the mitochondrial T3 receptor induces skeletal muscle atrophy during aging. Casas F, etal., PLoS One. 2009 May 20;4(5):e5631. doi: 10.1371/journal.pone.0005631.
4. An uncoupling protein 2 gene variant is associated with a raised body mass index but not Type II diabetes. Cassell PG, etal., Diabetologia. 1999 Jun;42(6):688-92.
5. Oral intake of rosiglitazone promotes a central antihypertensive effect via upregulation of peroxisome proliferator-activated receptor-gamma and alleviation of oxidative stress in rostral ventrolateral medulla of spontaneously hypertensive rats. Chan SH, etal., Hypertension. 2010 Jun;55(6):1444-53. Epub 2010 Apr 19.
6. Downregulation of genes involved in metabolism and oxidative stress in the peripheral leukocytes of Huntington's disease patients. Chang KH, etal., PLoS One. 2012;7(9):e46492. doi: 10.1371/journal.pone.0046492. Epub 2012 Sep 27.
7. Concordant mRNA expression of UCP-3, but not UCP-2, with mitochondrial thioesterase-1 in brown adipose tissue and skeletal muscle in db/db diabetic mice. Clapham JC, etal., Biochem Biophys Res Commun. 2001 Oct 12;287(5):1058-62.
8. A long-term high-fat diet increases oxidative stress, mitochondrial damage and apoptosis in the inner ear of D-galactose-induced aging rats. Du Z, etal., Hear Res. 2012 May;287(1-2):15-24. doi: 10.1016/j.heares.2012.04.012. Epub 2012 Apr 21.
9. Bile duct obstruction is associated with early postoperative upregulation of liver uncoupling protein-2 and reduced circulating glucose concentration in the rat. Enochsson L, etal., Nutrition. 2010 Apr;26(4):405-10. doi: 10.1016/j.nut.2009.05.005. Epub 2009 Jul 24.
10. A common polymorphism in the promoter of UCP2 is associated with decreased risk of obesity in middle-aged humans. Esterbauer H, etal., Nat Genet 2001 Jun;28(2):178-83.
11. Identification and distribution of uncoupling protein isoforms in the normal and diabetic rat kidney. Friederich M, etal., Adv Exp Med Biol. 2009;645:205-12.
12. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
13. Linkage exclusion analysis of two candidate regions on chromosomes 7 and 11: leptin and UCP2/UCP3 are not QTLs for obesity in US Caucasians. Guo JJ, etal., Biochem Biophys Res Commun. 2005 Jul 1;332(2):602-8.
14. [UCP2 and UCP3 gene expression, heart function and oxygen cost of myocardial work changes during aging and ischemia-reperfusion] Hoshovs'ka IuV, etal., Fiziol Zh. 2009;55(3):26-36.
15. A common polymorphism of uncoupling protein 2 gene is associated with hypertension. Ji Q, etal., J Hypertens. 2004 Jan;22(1):97-102.
16. Increased hepatic UCP2 expression in rats with nonalcoholic steatohepatitis is associated with upregulation of Sp1 binding to its motif within the proximal promoter region. Jiang Y, etal., J Cell Biochem. 2008 Sep 1;105(1):277-89. doi: 10.1002/jcb.21827.
17. The effect of rat strain, diet composition and feeding period on the development of a nutritional model of non-alcoholic fatty liver disease in rats. Kucera O, etal., Physiol Res. 2011;60(2):317-28. Epub 2010 Nov 29.
18. [The relationship between uncoupling protein 2 expression and myocardial high energy phosphates content in abdominal aorta constriction induced heart failure rats]. Li N, etal., Zhonghua Xin Xue Guan Bing Za Zhi. 2009 Dec;37(12):1108-12.
19. [Relationship between the expression of uncoupling protein 2 and the damage by oxygen free radicals in acute liver failure rats]. Liu JY, etal., Zhonghua Gan Zang Bing Za Zhi. 2011 Jan;19(1):55-7. doi: 10.3760/cma.j.issn.1007-3418.2011.01.015.
20. Both ischemic preconditioning and ghrelin administration protect hippocampus from ischemia/reperfusion and upregulate uncoupling protein-2. Liu Y, etal., BMC Physiol. 2009 Sep 22;9:17. doi: 10.1186/1472-6793-9-17.
21. Uncoupling protein-2 prevents neuronal death and diminishes brain dysfunction after stroke and brain trauma. Mattiasson G, etal., Nat Med. 2003 Aug;9(8):1062-8. Epub 2003 Jul 13.
22. Supplementation of alpha-tocopherol improves cardiovascular risk factors via the insulin signalling pathway and reduction of mitochondrial reactive oxygen species in type II diabetic rats. Minamiyama Y, etal., Free Radic Res. 2008 Mar;42(3):261-71.
23. Bezafibrate-induced changes over time in the expression of uncoupling protein (UCP) mRNA in the tissues: a study in spontaneously type 2 diabetic rats with visceral obesity. Mori Y, etal., J Atheroscler Thromb. 2004;11(4):224-31.
24. Amelioration of high fructose-induced metabolic derangements by activation of PPARalpha. Nagai Y, etal., Am J Physiol Endocrinol Metab 2002 May;282(5):E1180-90.
25. Role of UCP2 expression after hepatic warm ischemia-reperfusion in the rat. Ninomiya M, etal., Gut Liver. 2011 Dec;5(4):486-92. Epub 2011 Nov 21.
26. Associations of the UCP2 gene locus with asymptomatic carotid atherosclerosis in middle-aged women. Oberkofler H, etal., Arterioscler Thromb Vasc Biol. 2005 Mar;25(3):604-10. Epub 2004 Dec 16.
27. Association between obesity and insulin resistance with UCP2-UCP3 gene variants in Spanish children and adolescents. Ochoa MC, etal., Mol Genet Metab. 2007 Dec;92(4):351-8. Epub 2007 Sep 17.
28. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
29. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
30. Genipin inhibits mitochondrial uncoupling protein 2 expression and ameliorates podocyte injury in diabetic mice. Qiu W, etal., PLoS One. 2012;7(7):e41391. Epub 2012 Jul 19.
31. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
32. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
33. Functional polymorphisms of UCP2 and UCP3 are associated with a reduced prevalence of diabetic neuropathy in patients with type 1 diabetes. Rudofsky G Jr, etal., Diabetes Care. 2006 Jan;29(1):89-94.
34. Uncoupling protein-2 (UCP2) induces mitochondrial proton leak and increases susceptibility of non-alcoholic steatohepatitis (NASH) liver to ischaemia-reperfusion injury. Serviddio G, etal., Gut. 2008 Jul;57(7):957-65. doi: 10.1136/gut.2007.147496. Epub 2008 Feb 28.
35. Genetic risk factors for renal failure among north Indian ESRD patients. Tripathi G, etal., Clin Biochem. 2008 May;41(7-8):525-31. Epub 2008 Jan 26.
36. Immune cell profiling of COVID-19 patients in the recovery stage by single-cell sequencing. Wen W, etal., Cell Discov. 2020 May 4;6:31. doi: 10.1038/s41421-020-0168-9. eCollection 2020.
37. Protection of regenerating liver after partial hepatectomy from carbon tetrachloride hepatotoxicity in rats: roles of mitochondrial uncoupling protein 2 and ATP stores. Wu Q, etal., Dig Dis Sci. 2009 Sep;54(9):1918-25. doi: 10.1007/s10620-008-0650-y. Epub 2008 Dec 23.
38. [Study on the expression of uncoupling protein 2 in the kidney of the rats with hypothyroidism]. Xu J, etal., Zhongguo Wei Zhong Bing Ji Jiu Yi Xue. 2010 Dec;22(12):729-32.
39. Effect of berberine on expressions of uncoupling protein-2 mRNA and protein in hepatic tissue of non-alcoholic fatty liver disease in rats. Yang QH, etal., Chin J Integr Med. 2011 Mar;17(3):205-11. Epub 2011 Feb 27.
40. Association of genetic variants with chronic kidney disease in Japanese individuals. Yoshida T, etal., Clin J Am Soc Nephrol. 2009 May;4(5):883-90. Epub 2009 Apr 30.
41. Uncoupling protein-2 negatively regulates insulin secretion and is a major link between obesity, beta cell dysfunction, and type 2 diabetes. Zhang CY, etal., Cell 2001 Jun 15;105(6):745-55.
42. Genomic modulation of mitochondrial respiratory genes in the hypertrophied heart reflects adaptive changes in mitochondrial and contractile function. Zungu M, etal., Am J Physiol Heart Circ Physiol. 2007 Nov;293(5):H2819-25. Epub 2007 Aug 17.
Additional References at PubMed
PMID:8125298   PMID:9054939   PMID:9133562   PMID:9180264   PMID:9196039   PMID:9559644   PMID:9568704   PMID:10027754   PMID:10082652   PMID:10620491   PMID:10772343   PMID:10785390  
PMID:11466580   PMID:11713718   PMID:11780125   PMID:11904148   PMID:11920154   PMID:11935148   PMID:11994670   PMID:12030845   PMID:12075579   PMID:12145158   PMID:12355400   PMID:12385772  
PMID:12395215   PMID:12401727   PMID:12477932   PMID:12670931   PMID:12690079   PMID:12716765   PMID:12720538   PMID:12734183   PMID:12746756   PMID:12787871   PMID:12797456   PMID:12855674  
PMID:12912909   PMID:12915397   PMID:12960023   PMID:14627764   PMID:14659466   PMID:14693721   PMID:14730379   PMID:14747301   PMID:14759071   PMID:14974928   PMID:15016641   PMID:15039126  
PMID:15045692   PMID:15061987   PMID:15120704   PMID:15149891   PMID:15165610   PMID:15192823   PMID:15220218   PMID:15308133   PMID:15448008   PMID:15475368   PMID:15489334   PMID:15520825  
PMID:15527803   PMID:15562023   PMID:15564896   PMID:15634780   PMID:15827742   PMID:15833942   PMID:15905464   PMID:15951317   PMID:15959859   PMID:15985484   PMID:16021520   PMID:16054055  
PMID:16167150   PMID:16282353   PMID:16562813   PMID:16567833   PMID:16622580   PMID:16644712   PMID:16741267   PMID:16806233   PMID:16845607   PMID:16982633   PMID:17052689   PMID:17066476  
PMID:17130180   PMID:17170091   PMID:17240372   PMID:17242157   PMID:17316620   PMID:17342078   PMID:17351641   PMID:17397545   PMID:17462780   PMID:17463068   PMID:17502873   PMID:17512314  
PMID:17544366   PMID:17555951   PMID:17570749   PMID:17601350   PMID:17666355   PMID:17701054   PMID:17718790   PMID:17894153   PMID:17985659   PMID:18006489   PMID:18018477   PMID:18031357  
PMID:18059082   PMID:18167556   PMID:18192542   PMID:18223008   PMID:18301352   PMID:18301432   PMID:18305572   PMID:18413749   PMID:18426866   PMID:18460338   PMID:18496642   PMID:18593920  
PMID:18660489   PMID:18720901   PMID:18755175   PMID:18839467   PMID:18846338   PMID:18924534   PMID:18940651   PMID:18956255   PMID:18977241   PMID:18996102   PMID:19039313   PMID:19056482  
PMID:19056576   PMID:19065272   PMID:19137581   PMID:19140314   PMID:19155787   PMID:19336475   PMID:19368944   PMID:19387457   PMID:19413708   PMID:19420105   PMID:19491387   PMID:19527523  
PMID:19531977   PMID:19556617   PMID:19578796   PMID:19653005   PMID:19659999   PMID:19680556   PMID:19681913   PMID:19727213   PMID:19753844   PMID:19760975   PMID:19769793   PMID:19833146  
PMID:19846869   PMID:19876004   PMID:19889414   PMID:19895332   PMID:19908126   PMID:19913121   PMID:19946892   PMID:19948975   PMID:19950601   PMID:20056920   PMID:20142250   PMID:20145583  
PMID:20301549   PMID:20332018   PMID:20359253   PMID:20384434   PMID:20416077   PMID:20427509   PMID:20468064   PMID:20538960   PMID:20595066   PMID:20602615   PMID:20608355   PMID:20628086  
PMID:20734064   PMID:20802238   PMID:20804304   PMID:20813684   PMID:20877624   PMID:20937264   PMID:21029457   PMID:21074158   PMID:21128330   PMID:21175267   PMID:21254885   PMID:21266666  
PMID:21340542   PMID:21374988   PMID:21557918   PMID:21584501   PMID:21613221   PMID:21666788   PMID:21720911   PMID:21751002   PMID:21873561   PMID:21873635   PMID:21883184   PMID:21935467  
PMID:22001364   PMID:22070905   PMID:22085932   PMID:22134120   PMID:22241057   PMID:22266335   PMID:22292025   PMID:22349573   PMID:22490607   PMID:22524567   PMID:22533685   PMID:22568573  
PMID:22613561   PMID:22634308   PMID:22733179   PMID:22807616   PMID:22847181   PMID:22995745   PMID:23008094   PMID:23033381   PMID:23068098   PMID:23069211   PMID:23088537   PMID:23088859  
PMID:23101559   PMID:23147265   PMID:23266187   PMID:23314523   PMID:23365654   PMID:23412863   PMID:23432701   PMID:23434936   PMID:23505621   PMID:23521650   PMID:23537071   PMID:23560041  
PMID:23621569   PMID:23639961   PMID:23826253   PMID:23835672   PMID:23988448   PMID:24041971   PMID:24065674   PMID:24141050   PMID:24142693   PMID:24251413   PMID:24304655   PMID:24395786  
PMID:24440978   PMID:24564667   PMID:24642125   PMID:24659521   PMID:24741957   PMID:24752406   PMID:24804925   PMID:24853548   PMID:24965893   PMID:25081806   PMID:25140781   PMID:25351290  
PMID:25396419   PMID:25407516   PMID:25416956   PMID:25431415   PMID:25482405   PMID:25512910   PMID:25621764   PMID:25773007   PMID:25789405   PMID:25910810   PMID:25960046   PMID:25976474  
PMID:26082030   PMID:26107945   PMID:26181366   PMID:26182433   PMID:26186194   PMID:26218518   PMID:26275882   PMID:26356408   PMID:26402942   PMID:26450681   PMID:26526553   PMID:26642043  
PMID:26965008   PMID:27129291   PMID:27256164   PMID:27273589   PMID:27301474   PMID:27376365   PMID:27417115   PMID:27562082   PMID:27615599   PMID:27743836   PMID:27759071   PMID:27794526  
PMID:27875726   PMID:27967291   PMID:27989750   PMID:28042952   PMID:28089824   PMID:28130074   PMID:28222054   PMID:28258342   PMID:28281015   PMID:28514442   PMID:28574619   PMID:28681398  
PMID:28704105   PMID:28737710   PMID:28771482   PMID:29017362   PMID:29025747   PMID:29043564   PMID:29117863   PMID:29151065   PMID:29529994   PMID:29634487   PMID:29777235   PMID:29927735  
PMID:29936692   PMID:30007886   PMID:30100544   PMID:30359091   PMID:30381728   PMID:30431098   PMID:30556651   PMID:30910560   PMID:31085159   PMID:31218541   PMID:31330574   PMID:31340742  
PMID:31461648   PMID:31899915   PMID:31932578   PMID:32120777   PMID:32156173   PMID:32190174   PMID:32251712   PMID:32319575   PMID:32470336   PMID:32474746   PMID:32492982   PMID:32553458  
PMID:32662357   PMID:32720029   PMID:32746947   PMID:32858880   PMID:33069910   PMID:33125133   PMID:33191890   PMID:33230296   PMID:33372430   PMID:33373220   PMID:33578539   PMID:33579234  
PMID:33882809   PMID:33888769   PMID:33941479   PMID:33957975   PMID:33961781   PMID:34287826   PMID:34289004   PMID:34308648   PMID:34481515   PMID:34712730   PMID:35129048   PMID:35488517  
PMID:35934931   PMID:36140780   PMID:36346492   PMID:36499405   PMID:36651711   PMID:36833388   PMID:37175829   PMID:37744277   PMID:38217303  


Genomics

Comparative Map Data
UCP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381173,974,672 - 73,983,202 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1173,974,672 - 73,982,843 (-)EnsemblGRCh38hg38GRCh38
GRCh371173,685,717 - 73,694,247 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361173,363,364 - 73,371,537 (-)NCBINCBI36Build 36hg18NCBI36
Build 341173,363,363 - 73,371,537NCBI
Celera1170,992,461 - 71,000,634 (-)NCBICelera
Cytogenetic Map11q13.4NCBI
HuRef1169,981,482 - 69,989,655 (-)NCBIHuRef
CHM1_11173,569,569 - 73,577,739 (-)NCBICHM1_1
T2T-CHM13v2.01173,903,817 - 73,912,347 (-)NCBIT2T-CHM13v2.0
Ucp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397100,142,565 - 100,148,832 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7100,142,544 - 100,151,227 (+)EnsemblGRCm39 Ensembl
GRCm387100,493,337 - 100,499,629 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7100,493,337 - 100,502,020 (+)EnsemblGRCm38mm10GRCm38
MGSCv377107,641,854 - 107,650,682 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367100,367,446 - 100,376,102 (+)NCBIMGSCv36mm8
Celera7100,830,936 - 100,839,747 (+)NCBICelera
Cytogenetic Map7E2NCBI
cM Map754.36NCBI
Ucp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81164,251,373 - 164,257,742 (+)NCBIGRCr8
mRatBN7.21154,839,242 - 154,845,612 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1154,839,209 - 154,845,611 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1162,834,282 - 162,840,647 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01170,014,387 - 170,020,752 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01162,888,256 - 162,894,621 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01165,506,375 - 165,512,744 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1165,506,361 - 165,512,744 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01171,707,625 - 171,713,991 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41157,925,514 - 157,928,222 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11158,000,971 - 158,007,311 (+)NCBI
Celera1152,922,529 - 152,928,898 (+)NCBICelera
RH 3.4 Map11261.4RGD
Cytogenetic Map1q32NCBI
Ucp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541417,592,914 - 17,596,477 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541417,592,914 - 17,596,477 (+)NCBIChiLan1.0ChiLan1.0
UCP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2974,916,276 - 74,923,240 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11175,960,189 - 75,967,154 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01169,047,397 - 69,056,056 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11172,354,529 - 72,363,185 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1172,354,529 - 72,363,185 (-)Ensemblpanpan1.1panPan2
UCP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12124,304,410 - 24,311,392 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2124,304,457 - 24,311,128 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2124,075,387 - 24,078,118 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02124,510,583 - 24,517,796 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2124,510,627 - 24,520,713 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12124,310,265 - 24,312,996 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02124,510,181 - 24,512,912 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02124,425,514 - 24,428,245 (+)NCBIUU_Cfam_GSD_1.0
Ucp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494761,460,097 - 61,466,425 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364983,059,297 - 3,066,197 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364983,059,700 - 3,066,112 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UCP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl98,358,025 - 8,365,547 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.198,358,559 - 8,364,552 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.299,147,996 - 9,155,017 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap9p24-p21NCBI
UCP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1165,238,311 - 65,246,841 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl165,235,775 - 65,246,450 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604360,637,629 - 60,646,847 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ucp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248173,067,320 - 3,075,043 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248173,067,358 - 3,075,045 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UCP2
51 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003355.2(UCP2):c.-1245G>A single nucleotide variant Body mass index quantitative trait locus 4 [RCV000023142] Chr11:73983709 [GRCh38]
Chr11:73694754 [GRCh37]
Chr11:11q13.4
risk factor
GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|See cases [RCV000052684] Chr11:71923251..79662025 [GRCh38]
Chr11:71634297..79373069 [GRCh37]
Chr11:71311945..79050717 [NCBI36]
Chr11:11q13.4-14.1
pathogenic
GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1 copy number loss See cases [RCV000052708] Chr11:71928796..77064521 [GRCh38]
Chr11:71639842..76751808 [GRCh37]
Chr11:71317490..76453216 [NCBI36]
Chr11:11q13.4-13.5
pathogenic
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 copy number loss See cases [RCV000052709] Chr11:71969881..78232895 [GRCh38]
Chr11:71680927..77943941 [GRCh37]
Chr11:71358575..77621589 [NCBI36]
Chr11:11q13.4-14.1
pathogenic
NM_003355.2(UCP2):c.922C>T (p.Pro308Ser) single nucleotide variant Malignant melanoma [RCV000069684] Chr11:73975015 [GRCh38]
Chr11:73686060 [GRCh37]
Chr11:73363708 [NCBI36]
Chr11:11q13.4
not provided
NM_003355.3(UCP2):c.582G>A (p.Leu194=) single nucleotide variant not provided [RCV000890009]|not specified [RCV000118809] Chr11:73976693 [GRCh38]
Chr11:73687738 [GRCh37]
Chr11:11q13.4
benign
NM_003355.3(UCP2):c.750C>T (p.Tyr250=) single nucleotide variant Body mass index quantitative trait locus 4 [RCV002490818]|not provided [RCV000890008]|not specified [RCV000118810] Chr11:73975556 [GRCh38]
Chr11:73686601 [GRCh37]
Chr11:11q13.4
benign|likely benign
NM_003355.3(UCP2):c.164C>T (p.Ala55Val) single nucleotide variant not provided [RCV001682828]|not specified [RCV000118811] Chr11:73978059 [GRCh38]
Chr11:73689104 [GRCh37]
Chr11:11q13.4
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 11q13.4(chr11:73574925-74133379)x3 copy number gain See cases [RCV000134027] Chr11:73574925..74133379 [GRCh38]
Chr11:73285970..73844424 [GRCh37]
Chr11:72963618..73522072 [NCBI36]
Chr11:11q13.4
uncertain significance
GRCh38/hg38 11q13.4(chr11:73859172-73977160)x3 copy number gain See cases [RCV000141342] Chr11:73859172..73977160 [GRCh38]
Chr11:73570217..73688205 [GRCh37]
Chr11:73247865..73365853 [NCBI36]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.446G>A (p.Arg149Gln) single nucleotide variant not provided [RCV000898089]|not specified [RCV000192332] Chr11:73976909 [GRCh38]
Chr11:73687954 [GRCh37]
Chr11:11q13.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001267803.1(PAAF1):c.*451_*70114dup duplication Preeclampsia [RCV000161633] Chr11:73927813..73997476 [GRCh38]
Chr11:73638858..73708521 [GRCh37]
Chr11:11q13.4
not provided
NM_003355.3(UCP2):c.115G>A (p.Val39Ile) single nucleotide variant not provided [RCV000913151]|not specified [RCV000193644] Chr11:73978264 [GRCh38]
Chr11:73689309 [GRCh37]
Chr11:11q13.4
benign|likely benign
NM_003355.3(UCP2):c.816-2A>G single nucleotide variant not provided [RCV001356223]|not specified [RCV000193728] Chr11:73975123 [GRCh38]
Chr11:73686168 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.156C>T (p.Arg52=) single nucleotide variant not specified [RCV000194691] Chr11:73978067 [GRCh38]
Chr11:73689112 [GRCh37]
Chr11:11q13.4
likely pathogenic|uncertain significance
GRCh37/hg19 11q13.4(chr11:73444963-73777547)x3 copy number gain See cases [RCV000447257] Chr11:73444963..73777547 [GRCh37]
Chr11:11q13.4
uncertain significance
GRCh37/hg19 11q13.4(chr11:73570217-73687662)x3 copy number gain See cases [RCV000447896] Chr11:73570217..73687662 [GRCh37]
Chr11:11q13.4
likely benign
GRCh37/hg19 11q13.4(chr11:73197127-73712308)x3 copy number gain See cases [RCV000447783] Chr11:73197127..73712308 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.119G>A (p.Arg40Gln) single nucleotide variant not specified [RCV000501250] Chr11:73978260 [GRCh38]
Chr11:73689305 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.-5G>A single nucleotide variant not specified [RCV000501267] Chr11:73978383 [GRCh38]
Chr11:73689428 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.181G>A (p.Gly61Ser) single nucleotide variant not specified [RCV000504296] Chr11:73978042 [GRCh38]
Chr11:73689087 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.227G>A (p.Arg76Gln) single nucleotide variant Body mass index quantitative trait locus 4 [RCV002496960]|not provided [RCV000895120]|not specified [RCV000504343] Chr11:73977996 [GRCh38]
Chr11:73689041 [GRCh37]
Chr11:11q13.4
benign|likely benign
NM_003355.3(UCP2):c.803C>G (p.Ala268Gly) single nucleotide variant Body mass index quantitative trait locus 4 [RCV002496959]|not provided [RCV000895119]|not specified [RCV000502260] Chr11:73975503 [GRCh38]
Chr11:73686548 [GRCh37]
Chr11:11q13.4
likely benign
NM_003355.3(UCP2):c.79G>A (p.Ala27Thr) single nucleotide variant Body mass index quantitative trait locus 4 [RCV000763774]|not specified [RCV000502669] Chr11:73978300 [GRCh38]
Chr11:73689345 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.533-10C>T single nucleotide variant not specified [RCV000502721] Chr11:73976752 [GRCh38]
Chr11:73687797 [GRCh37]
Chr11:11q13.4
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.4(chr11:73254213-73770541)x3 copy number gain not provided [RCV000683339] Chr11:73254213..73770541 [GRCh37]
Chr11:11q13.4
uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q13.4(chr11:73684294-73716960)x1 copy number loss not provided [RCV000750110] Chr11:73684294..73716960 [GRCh37]
Chr11:11q13.4
benign
GRCh37/hg19 11q13.4(chr11:73684294-73717396)x1 copy number loss not provided [RCV000750111] Chr11:73684294..73717396 [GRCh37]
Chr11:11q13.4
benign
NM_003355.3(UCP2):c.477C>T (p.Thr159=) single nucleotide variant not provided [RCV000925035] Chr11:73976878 [GRCh38]
Chr11:73687923 [GRCh37]
Chr11:11q13.4
likely benign
NM_003355.3(UCP2):c.169G>A (p.Ala57Thr) single nucleotide variant UCP2-related condition [RCV003411886]|not provided [RCV000905907]|not specified [RCV001818788] Chr11:73978054 [GRCh38]
Chr11:73689099 [GRCh37]
Chr11:11q13.4
likely benign|uncertain significance
GRCh37/hg19 11q13.4(chr11:73395712-73788461)x3 copy number gain not provided [RCV000847026] Chr11:73395712..73788461 [GRCh37]
Chr11:11q13.4
uncertain significance
GRCh37/hg19 11q13.4(chr11:73128157-73788461)x4 copy number gain not provided [RCV000846791] Chr11:73128157..73788461 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.635-146_635-144del microsatellite not provided [RCV001540328] Chr11:73975815..73975817 [GRCh38]
Chr11:73686860..73686862 [GRCh37]
Chr11:11q13.4
benign
NM_003355.3(UCP2):c.816-10T>G single nucleotide variant not provided [RCV000934671] Chr11:73975131 [GRCh38]
Chr11:73686176 [GRCh37]
Chr11:11q13.4
likely benign
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_003355.3(UCP2):c.685A>G (p.Thr229Ala) single nucleotide variant Maturity-onset diabetes of the young type 2 [RCV003446787] Chr11:73975621 [GRCh38]
Chr11:73686666 [GRCh37]
Chr11:11q13.4
likely benign
NM_003355.3(UCP2):c.*2C>G single nucleotide variant not specified [RCV001817304] Chr11:73975005 [GRCh38]
Chr11:73686050 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.799C>T (p.Arg267Ter) single nucleotide variant Body mass index quantitative trait locus 4 [RCV002503328]|not specified [RCV001817957] Chr11:73975507 [GRCh38]
Chr11:73686552 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.800G>A (p.Arg267Gln) single nucleotide variant Inborn genetic diseases [RCV002542640]|not specified [RCV001820672] Chr11:73975506 [GRCh38]
Chr11:73686551 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.140G>A (p.Ser47Asn) single nucleotide variant not specified [RCV001822241] Chr11:73978083 [GRCh38]
Chr11:73689128 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.59C>T (p.Ala20Val) single nucleotide variant Inborn genetic diseases [RCV003375366]|not specified [RCV001822791] Chr11:73978320 [GRCh38]
Chr11:73689365 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.226C>T (p.Arg76Ter) single nucleotide variant not provided [RCV001908412] Chr11:73977997 [GRCh38]
Chr11:73689042 [GRCh37]
Chr11:11q13.4
uncertain significance
GRCh37/hg19 11q13.4(chr11:73444963-73777547) copy number gain not specified [RCV002052936] Chr11:73444963..73777547 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.404A>G (p.Gln135Arg) single nucleotide variant Inborn genetic diseases [RCV002592538]|not provided [RCV002038081] Chr11:73976951 [GRCh38]
Chr11:73687996 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.53T>C (p.Leu18Pro) single nucleotide variant not provided [RCV001939209] Chr11:73978326 [GRCh38]
Chr11:73689371 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.427C>T (p.Arg143Ter) single nucleotide variant not provided [RCV001917305] Chr11:73976928 [GRCh38]
Chr11:73687973 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.806T>C (p.Phe269Ser) single nucleotide variant Inborn genetic diseases [RCV003164313]|not provided [RCV002224199] Chr11:73975500 [GRCh38]
Chr11:73686545 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.448G>A (p.Ala150Thr) single nucleotide variant not provided [RCV002199742] Chr11:73976907 [GRCh38]
Chr11:73687952 [GRCh37]
Chr11:11q13.4
likely benign
NM_003355.3(UCP2):c.212G>A (p.Arg71His) single nucleotide variant not provided [RCV003118371] Chr11:73978011 [GRCh38]
Chr11:73689056 [GRCh37]
Chr11:11q13.4
uncertain significance
NC_000011.9:g.(?_71146421)_(75283128_?)dup duplication 3-methylglutaconic aciduria, type VIIB [RCV003122786] Chr11:71146421..75283128 [GRCh37]
Chr11:11q13.4-13.5
uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
NM_003355.3(UCP2):c.415G>A (p.Val139Met) single nucleotide variant Inborn genetic diseases [RCV003286646] Chr11:73976940 [GRCh38]
Chr11:73687985 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.864C>T (p.Phe288=) single nucleotide variant not specified [RCV003151683] Chr11:73975073 [GRCh38]
Chr11:73686118 [GRCh37]
Chr11:11q13.4
likely benign
NM_003355.3(UCP2):c.816-15A>T single nucleotide variant not provided [RCV002771347] Chr11:73975136 [GRCh38]
Chr11:73686181 [GRCh37]
Chr11:11q13.4
benign
NM_003355.3(UCP2):c.151G>A (p.Val51Met) single nucleotide variant not provided [RCV002616705] Chr11:73978072 [GRCh38]
Chr11:73689117 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.623A>G (p.Asn208Ser) single nucleotide variant Inborn genetic diseases [RCV002794417] Chr11:73976652 [GRCh38]
Chr11:73687697 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.688G>C (p.Val230Leu) single nucleotide variant Inborn genetic diseases [RCV002879963] Chr11:73975618 [GRCh38]
Chr11:73686663 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.634+18C>T single nucleotide variant not provided [RCV002776140] Chr11:73976623 [GRCh38]
Chr11:73687668 [GRCh37]
Chr11:11q13.4
benign
NM_003355.3(UCP2):c.310A>G (p.Lys104Glu) single nucleotide variant Inborn genetic diseases [RCV002849502] Chr11:73977913 [GRCh38]
Chr11:73688958 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.713T>A (p.Val238Asp) single nucleotide variant Inborn genetic diseases [RCV003167449]|not provided [RCV002593367] Chr11:73975593 [GRCh38]
Chr11:73686638 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.557A>G (p.Asn186Ser) single nucleotide variant not provided [RCV002636771] Chr11:73976718 [GRCh38]
Chr11:73687763 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.127-17C>T single nucleotide variant not provided [RCV002639105] Chr11:73978113 [GRCh38]
Chr11:73689158 [GRCh37]
Chr11:11q13.4
likely benign
NM_003355.3(UCP2):c.356G>A (p.Arg119His) single nucleotide variant not provided [RCV002736849] Chr11:73976999 [GRCh38]
Chr11:73688044 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.337C>T (p.His113Tyr) single nucleotide variant not provided [RCV002781494] Chr11:73977886 [GRCh38]
Chr11:73688931 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.595C>T (p.Leu199Phe) single nucleotide variant Inborn genetic diseases [RCV003004727] Chr11:73976680 [GRCh38]
Chr11:73687725 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.816-16G>A single nucleotide variant not provided [RCV002871877] Chr11:73975137 [GRCh38]
Chr11:73686182 [GRCh37]
Chr11:11q13.4
likely benign
NM_003355.3(UCP2):c.853G>A (p.Val285Met) single nucleotide variant Inborn genetic diseases [RCV002878218] Chr11:73975084 [GRCh38]
Chr11:73686129 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.518G>A (p.Arg173Gln) single nucleotide variant Inborn genetic diseases [RCV002657171] Chr11:73976837 [GRCh38]
Chr11:73687882 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.149C>T (p.Pro50Leu) single nucleotide variant Inborn genetic diseases [RCV003175557] Chr11:73978074 [GRCh38]
Chr11:73689119 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.8G>T (p.Gly3Val) single nucleotide variant Inborn genetic diseases [RCV003189388] Chr11:73978371 [GRCh38]
Chr11:73689416 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.73T>C (p.Cys25Arg) single nucleotide variant Inborn genetic diseases [RCV003203151] Chr11:73978306 [GRCh38]
Chr11:73689351 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.808T>C (p.Tyr270His) single nucleotide variant Inborn genetic diseases [RCV003356342] Chr11:73975498 [GRCh38]
Chr11:73686543 [GRCh37]
Chr11:11q13.4
uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5
pathogenic
GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1 copy number loss not provided [RCV003483128] Chr11:72308632..74236530 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.513G>T (p.Gly171=) single nucleotide variant not provided [RCV003739697] Chr11:73976842 [GRCh38]
Chr11:73687887 [GRCh37]
Chr11:11q13.4
likely benign
NM_003355.3(UCP2):c.517C>T (p.Arg173Trp) single nucleotide variant not provided [RCV003491825] Chr11:73976838 [GRCh38]
Chr11:73687883 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.286C>T (p.Arg96Cys) single nucleotide variant not provided [RCV003875958] Chr11:73977937 [GRCh38]
Chr11:73688982 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.815+3G>T single nucleotide variant not provided [RCV003850019] Chr11:73975488 [GRCh38]
Chr11:73686533 [GRCh37]
Chr11:11q13.4
uncertain significance
NM_003355.3(UCP2):c.635-9C>G single nucleotide variant not provided [RCV003834127] Chr11:73975680 [GRCh38]
Chr11:73686725 [GRCh37]
Chr11:11q13.4
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR15Ahsa-miR-15a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCRFunctional MTI21146880

Predicted Target Of
Summary Value
Count of predictions:2502
Count of miRNA genes:886
Interacting mature miRNAs:1066
Transcripts:ENST00000310473, ENST00000536983, ENST00000539330, ENST00000539764, ENST00000541027, ENST00000542615, ENST00000543714, ENST00000544615, ENST00000545212, ENST00000545562
Prediction methods:Microtar, Miranda, Rnahybrid
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
D11S1998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,697,760 - 117,697,916UniSTSGRCh37
Build 3611117,202,970 - 117,203,126RGDNCBI36
Celera11114,855,607 - 114,855,759RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map11q24UniSTS
HuRef11113,631,596 - 113,631,748UniSTS
Marshfield Genetic Map11113.13RGD
Marshfield Genetic Map11113.13UniSTS
deCODE Assembly Map11119.99UniSTS
Whitehead-RH Map11523.0UniSTS
Whitehead-YAC Contig Map11 UniSTS
D11S4464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711123,626,627 - 123,626,865UniSTSGRCh37
Build 3611123,131,837 - 123,132,075RGDNCBI36
Celera11120,786,017 - 120,786,255RGD
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map11q24.1UniSTS
HuRef11119,567,749 - 119,567,995UniSTS
Marshfield Genetic Map11123.0UniSTS
Marshfield Genetic Map11123.0RGD
deCODE Assembly Map11130.43UniSTS
PMC310777P17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,689,124 - 73,689,403UniSTSGRCh37
Build 361173,366,772 - 73,367,051RGDNCBI36
Celera1170,995,869 - 70,996,148RGD
Cytogenetic Map11q13UniSTS
HuRef1169,984,890 - 69,985,169UniSTS
PMC310777P18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,686,138 - 73,686,642UniSTSGRCh37
Build 361173,363,786 - 73,364,290RGDNCBI36
Celera1170,992,883 - 70,993,387RGD
Cytogenetic Map11q13UniSTS
HuRef1169,981,904 - 69,982,408UniSTS
UCP2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,685,772 - 73,685,848UniSTSGRCh37
Build 361173,363,420 - 73,363,496RGDNCBI36
Celera1170,992,517 - 70,992,593RGD
HuRef1169,981,538 - 69,981,614UniSTS
WI-13873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,685,727 - 73,685,876UniSTSGRCh37
Build 361173,363,375 - 73,363,524RGDNCBI36
Celera1170,992,472 - 70,992,621RGD
Cytogenetic Map11q13UniSTS
HuRef1169,981,493 - 69,981,642UniSTS
GeneMap99-GB4 RH Map11268.96UniSTS
Whitehead-RH Map11368.8UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 5 18
Medium 1918 1777 1367 333 1936 182 3058 1544 1450 342 954 1554 156 1176 1911 1
Low 514 1209 351 287 10 279 1290 646 2256 74 476 51 16 1 28 877 3 2
Below cutoff 4 2 6 3 3 6 4 21 2 10 7 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001381943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001381944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001381945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001381947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001381948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001381949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001381950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF019409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF096289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF208500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ223477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ223478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ223479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ087219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U76367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U82819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U94592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000310473   ⟹   ENSP00000312029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1173,974,679 - 73,982,843 (-)Ensembl
RefSeq Acc Id: ENST00000536983   ⟹   ENSP00000441147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1173,974,709 - 73,982,830 (-)Ensembl
RefSeq Acc Id: ENST00000539330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1173,981,148 - 73,982,843 (-)Ensembl
RefSeq Acc Id: ENST00000539764   ⟹   ENSP00000438230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1173,978,281 - 73,980,938 (-)Ensembl
RefSeq Acc Id: ENST00000541027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1173,978,696 - 73,982,843 (-)Ensembl
RefSeq Acc Id: ENST00000542615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1173,978,577 - 73,982,843 (-)Ensembl
RefSeq Acc Id: ENST00000543714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1173,978,191 - 73,982,843 (-)Ensembl
RefSeq Acc Id: ENST00000544615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1173,974,852 - 73,978,141 (-)Ensembl
RefSeq Acc Id: ENST00000545212   ⟹   ENSP00000439706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1173,975,530 - 73,977,006 (-)Ensembl
RefSeq Acc Id: ENST00000545562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1173,976,641 - 73,977,064 (-)Ensembl
RefSeq Acc Id: ENST00000663595   ⟹   ENSP00000499695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1173,974,672 - 73,982,843 (-)Ensembl
RefSeq Acc Id: NM_001381943   ⟹   NP_001368872
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,974,672 - 73,982,843 (-)NCBI
T2T-CHM13v2.01173,903,817 - 73,911,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001381944   ⟹   NP_001368873
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,974,672 - 73,983,202 (-)NCBI
T2T-CHM13v2.01173,903,817 - 73,912,347 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001381945   ⟹   NP_001368874
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,974,672 - 73,982,843 (-)NCBI
T2T-CHM13v2.01173,903,817 - 73,911,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001381947   ⟹   NP_001368876
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,974,672 - 73,982,843 (-)NCBI
T2T-CHM13v2.01173,903,817 - 73,911,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001381948   ⟹   NP_001368877
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,974,672 - 73,982,843 (-)NCBI
T2T-CHM13v2.01173,903,817 - 73,911,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001381949   ⟹   NP_001368878
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,974,672 - 73,982,843 (-)NCBI
T2T-CHM13v2.01173,903,817 - 73,911,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001381950   ⟹   NP_001368879
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,974,672 - 73,982,843 (-)NCBI
T2T-CHM13v2.01173,903,817 - 73,911,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003355   ⟹   NP_003346
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,974,672 - 73,982,843 (-)NCBI
GRCh371173,685,716 - 73,693,889 (-)ENTREZGENE
Build 361173,363,364 - 73,371,537 (-)NCBI Archive
HuRef1169,981,482 - 69,989,655 (-)ENTREZGENE
CHM1_11173,569,569 - 73,577,739 (-)NCBI
T2T-CHM13v2.01173,903,817 - 73,911,988 (-)NCBI
Sequence:
RefSeq Acc Id: NP_003346   ⟸   NM_003355
- Peptide Label: isoform a
- UniProtKB: Q4PJH8 (UniProtKB/Swiss-Prot),   Q53HM3 (UniProtKB/Swiss-Prot),   P55851 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001368873   ⟸   NM_001381944
- Peptide Label: isoform a
- UniProtKB: Q4PJH8 (UniProtKB/Swiss-Prot),   P55851 (UniProtKB/Swiss-Prot),   Q53HM3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001368877   ⟸   NM_001381948
- Peptide Label: isoform a
- UniProtKB: Q4PJH8 (UniProtKB/Swiss-Prot),   P55851 (UniProtKB/Swiss-Prot),   Q53HM3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001368879   ⟸   NM_001381950
- Peptide Label: isoform c
RefSeq Acc Id: NP_001368878   ⟸   NM_001381949
- Peptide Label: isoform b
RefSeq Acc Id: NP_001368874   ⟸   NM_001381945
- Peptide Label: isoform a
- UniProtKB: Q4PJH8 (UniProtKB/Swiss-Prot),   P55851 (UniProtKB/Swiss-Prot),   Q53HM3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001368876   ⟸   NM_001381947
- Peptide Label: isoform a
- UniProtKB: Q4PJH8 (UniProtKB/Swiss-Prot),   P55851 (UniProtKB/Swiss-Prot),   Q53HM3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001368872   ⟸   NM_001381943
- Peptide Label: isoform a
- UniProtKB: Q4PJH8 (UniProtKB/Swiss-Prot),   P55851 (UniProtKB/Swiss-Prot),   Q53HM3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000439706   ⟸   ENST00000545212
RefSeq Acc Id: ENSP00000499695   ⟸   ENST00000663595
RefSeq Acc Id: ENSP00000312029   ⟸   ENST00000310473
RefSeq Acc Id: ENSP00000441147   ⟸   ENST00000536983
RefSeq Acc Id: ENSP00000438230   ⟸   ENST00000539764

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55851-F1-model_v2 AlphaFold P55851 1-309 view protein structure

Promoters
RGD ID:6810198
Promoter ID:HG_ACW:13280
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UCP2.LAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361173,370,144 - 73,370,644 (-)MPROMDB
RGD ID:6789565
Promoter ID:HG_KWN:13692
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003355,   UC001OUQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361173,371,486 - 73,372,227 (-)MPROMDB
RGD ID:6853442
Promoter ID:EP74546
Type:initiation region
Name:HS_UCP2
Description:Uncoupling protein 2 (mitochondrial, proton carrier).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361173,371,525 - 73,371,585EPD
RGD ID:7221513
Promoter ID:EPDNEW_H16503
Type:initiation region
Name:UCP2_1
Description:uncoupling protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16504  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,982,843 - 73,982,903EPDNEW
RGD ID:7221519
Promoter ID:EPDNEW_H16504
Type:initiation region
Name:UCP2_2
Description:uncoupling protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16503  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,983,307 - 73,983,367EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12518 AgrOrtholog
COSMIC UCP2 COSMIC
Ensembl Genes ENSG00000175567 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000310473 ENTREZGENE
  ENST00000310473.9 UniProtKB/Swiss-Prot
  ENST00000536983.5 UniProtKB/TrEMBL
  ENST00000539764.1 UniProtKB/TrEMBL
  ENST00000545212.1 UniProtKB/TrEMBL
  ENST00000663595 ENTREZGENE
  ENST00000663595.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.50.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000175567 GTEx
HGNC ID HGNC:12518 ENTREZGENE
Human Proteome Map UCP2 Human Proteome Map
InterPro Mit_uncoupling_UCP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mitochondrial_sb/sol_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mt_carrier_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7351 UniProtKB/Swiss-Prot
NCBI Gene 7351 ENTREZGENE
OMIM 601693 OMIM
PANTHER MITOCHONDRIAL DICARBOXYLATE CARRIER-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MITOCHONDRIAL UNCOUPLING PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Mito_carr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37165 PharmGKB
PRINTS MTUNCOUPLING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SOLCAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103506 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F5GX45_HUMAN UniProtKB/TrEMBL
  F5H312_HUMAN UniProtKB/TrEMBL
  H0YFQ0_HUMAN UniProtKB/TrEMBL
  P55851 ENTREZGENE
  Q4PJH8 ENTREZGENE
  Q53HM3 ENTREZGENE
  UCP2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q4PJH8 UniProtKB/Swiss-Prot
  Q53HM3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 UCP2  uncoupling protein 2  UCP2  uncoupling protein 2 (mitochondrial, proton carrier)  Symbol and/or name change 5135510 APPROVED
2016-02-25 UCP2  uncoupling protein 2 (mitochondrial, proton carrier)  BMIQ4  body mass index quantitative trait 4  Data merged from RGD:1344681 737654 PROVISIONAL