NR1H4 (nuclear receptor subfamily 1 group H member 4) - Rat Genome Database

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Gene: NR1H4 (nuclear receptor subfamily 1 group H member 4) Homo sapiens
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Symbol: NR1H4
Name: nuclear receptor subfamily 1 group H member 4
RGD ID: 734103
HGNC Page HGNC:7967
Description: Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; chenodeoxycholic acid binding activity; and transcription coregulator binding activity. Involved in several processes, including cellular response to bile acid; intracellular triglyceride homeostasis; and regulation of biosynthetic process. Acts upstream of or within negative regulation of very-low-density lipoprotein particle remodeling and positive regulation of DNA-templated transcription. Located in cytosol; euchromatin; and nuclear speck. Part of receptor complex. Implicated in extrahepatic cholestasis; hepatocellular carcinoma; and progressive familial intrahepatic cholestasis 5. Biomarker of hepatocellular carcinoma; metabolic dysfunction-associated steatohepatitis; and primary biliary cholangitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BAR; bile acid receptor; farnesoid X nuclear receptor; farnesoid X receptor; farnesoid X-activated receptor; farnesol receptor HRR-1; FXR; HRR-1; HRR1; MGC163445; nuclear receptor subfamily 1, group H, member 4; PFIC5; retinoid X receptor-interacting protein 14; RIP14; RXR-interacting protein 14
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812100,473,866 - 100,564,414 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12100,473,708 - 100,564,414 (+)EnsemblGRCh38hg38GRCh38
GRCh3712100,867,644 - 100,958,192 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361299,391,810 - 99,481,774 (+)NCBINCBI36Build 36hg18NCBI36
Build 341299,370,146 - 99,460,111NCBI
Celera12100,532,992 - 100,622,995 (+)NCBICelera
Cytogenetic Map12q23.1NCBI
HuRef1297,928,334 - 98,018,410 (+)NCBIHuRef
CHM1_112100,833,597 - 100,923,679 (+)NCBICHM1_1
T2T-CHM13v2.012100,435,311 - 100,525,835 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-epicatechin-3-O-gallate  (EXP)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(S)-colchicine  (EXP)
1,2-dimethylhydrazine  (ISO)
1,3,7,9-tetramethyluric acid  (ISO)
1-naphthyl isothiocyanate  (EXP,ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
22,23-dihydroavermectin B1a  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,6-diaminoacridine  (EXP)
3-chloropropane-1,2-diol  (ISO)
3alpha-hydroxy-5beta-pregnan-20-one  (ISO)
4'-epidoxorubicin  (EXP)
4'-hydroxyacetophenone  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (EXP)
5-aza-2'-deoxycytidine  (EXP)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (ISO)
9-aminoacridine  (EXP)
abamectin  (EXP)
acadesine  (ISO)
acrylamide  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP,ISO)
AICA ribonucleotide  (ISO)
albendazole  (EXP)
albendazole S-oxide  (EXP)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (EXP)
Alisol B  (EXP)
Alisol C 23-acetate  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-linolenic acid  (EXP)
alvocidib  (EXP)
ammonium chloride  (ISO)
ampicillin  (ISO)
angelicin  (ISO)
Ankaflavin  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
apigenin  (EXP)
arachidonic acid  (EXP)
arjunolic acid  (ISO)
arotinoid acid  (EXP)
arsenite(3-)  (ISO)
atazanavir sulfate  (EXP)
Atractylenolide II  (EXP)
Azoxymethane  (ISO)
benazepril  (EXP)
benidipine  (EXP)
benomyl  (EXP)
benzo[a]pyrene  (EXP)
beta-D-glucosamine  (ISO)
beta-hexachlorocyclohexane  (EXP,ISO)
beta-lapachone  (ISO)
beta-naphthoflavone  (EXP,ISO)
bezafibrate  (EXP,ISO)
bifenthrin  (EXP)
biochanin A  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
Boldine  (ISO)
bortezomib  (EXP)
bosentan  (EXP)
bromuconazole  (ISO)
butachlor  (EXP)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
carbendazim  (EXP)
carbon nanotube  (ISO)
carvedilol  (ISO)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP,ISO)
chlorogenic acid  (EXP)
chlorpromazine  (ISO)
cholanic acid  (EXP)
cholate  (EXP)
cholesterol  (EXP,ISO)
cholic acid  (EXP,ISO)
choline  (ISO)
chrysin  (EXP)
ciclobendazole  (EXP)
cilnidipine  (EXP)
cisplatin  (EXP)
citric acid  (ISO)
clevidipine  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
corilagin  (ISO)
corn oil  (ISO)
Cyclopamine  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cyfluthrin  (EXP)
cyhalothrin  (EXP)
cypermethrin  (EXP)
D-glucose  (EXP)
daunorubicin  (EXP)
DDE  (EXP)
deoxycholic acid  (EXP,ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
diethyl phthalate  (ISO)
digoxin  (EXP)
dihydroartemisinin  (EXP,ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethyl sulfoxide  (ISO)
Diosbulbin B  (EXP,ISO)
dioscin  (ISO)
diosgenin  (ISO)
Diphenadione  (EXP)
dipyridamole  (EXP)
dobutamine  (EXP)
Doramectin  (EXP)
dorsomorphin  (ISO)
doxorubicin  (EXP,ISO)
emamectin  (EXP)
emetine  (EXP)
emodin  (ISO)
endosulfan  (ISO)
enilconazole  (ISO)
epoxiconazole  (ISO)
eprinomectin  (EXP)
ethacridine  (EXP)
ethambutol  (EXP,ISO)
ethanol  (EXP,ISO)
ethylestrenol  (EXP)
farnesol  (EXP)
felodipine  (EXP)
fenbendazole  (EXP)
fenofibrate  (EXP,ISO)
fenvalerate  (EXP)
Fexaramine  (EXP)
flucythrinate  (EXP)
fluoranthene  (ISO)
fluoxastrobin  (EXP)
fluvalinate  (EXP)
fulvestrant  (EXP,ISO)
furan  (ISO)
gallocatechin  (EXP)
Geniposide  (ISO)
genistein  (EXP,ISO)
Gentiopicrin  (ISO)
ginsenoside Rg1  (ISO)
glafenine  (ISO)
glucose  (EXP)
glyburide  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glycyrrhetinic acid  (ISO)
glyphosate  (ISO)
griseofulvin  (EXP)
guggulsterone  (EXP,ISO)
GW 3965  (ISO)
GW 4064  (EXP,ISO)
GW 7647  (EXP)
hexadecanoic acid  (EXP,ISO)
high-density lipoprotein cholesterol  (ISO)
hydrogen peroxide  (EXP)
ibuprofen  (ISO)
icariside II  (EXP,ISO)
idarubicin  (EXP)
imazamox  (EXP)
imazapyr  (EXP)
Imazethapyr  (EXP)
isoniazide  (EXP,ISO)
isoprenaline  (ISO)
isotretinoin  (EXP)
Isradipine  (EXP)
ivermectin  (EXP,ISO)
juvenile hormone III  (EXP)
kadethrin  (EXP)
kaempferol  (EXP)
ketoconazole  (EXP)
L-methionine  (ISO)
lacidipine  (EXP)
lercanidipine  (EXP)
lipopolysaccharide  (ISO)
liquiritin  (ISO)
lithocholic acid  (EXP,ISO)
malic acid  (ISO)
manidipine  (EXP)
mebendazole  (EXP)
mechlorethamine  (ISO)
menadione  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
methotrexate  (ISO)
methoxsalen  (ISO)
methyl 2-methylpropyl 2,6-dimethyl-4-(2-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate  (EXP)
methylmercury chloride  (EXP)
metronidazole  (ISO)
milbemycin  (EXP)
mitomycin C  (EXP)
monascin  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
montelukast  (EXP)
Muraglitazar  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-nitrosodiethylamine  (ISO)
naphthalenes  (EXP)
nefazodone  (EXP,ISO)
nemorubicin  (EXP)
neomycin  (ISO)
nicardipine  (EXP)
nifedipine  (EXP)
nimesulide  (ISO)
nimodipine  (EXP)
nisoldipine  (EXP)
nitrendipine  (EXP)
nitrofen  (ISO)
nocodazole  (EXP)
obeticholic acid  (EXP,ISO)
oleanolic acid  (ISO)
oleic acid  (EXP)
oxfendazole  (EXP)
ozone  (ISO)
papaverine  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
parbendazole  (EXP)
pentamidine  (EXP)
pentanal  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (EXP,ISO)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
phenothrin  (EXP)
picoxystrobin  (EXP)
picropodophyllotoxin  (EXP)
Picroside ii  (ISO)
Pirarubicin  (EXP)
pirinixic acid  (ISO)
platycodin D  (EXP)
podophyllotoxin  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
procymidone  (ISO)
propanal  (EXP)
prothioconazole  (ISO)
Prothioconazole-desthio  (ISO)
psoralen  (ISO)
pyrazinecarboxamide  (EXP,ISO)
quercetin  (EXP)
quinolines  (EXP)
resveratrol  (ISO)
rifampicin  (EXP,ISO)
rifaximin  (EXP)
ritonavir  (EXP)
rosuvastatin  (ISO)
rotenone  (EXP)
Salidroside  (ISO)
scoparone  (EXP)
Selamectin  (EXP)
senecionine  (ISO)
silibinin  (ISO)
silicon dioxide  (EXP)
simvastatin  (ISO)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
stigmasterol  (ISO)
streptozocin  (ISO)
tamibarotene  (EXP)
tamoxifen  (ISO)
tartrazine  (EXP)
taurine  (ISO)
tauro-beta-muricholic acid  (ISO)
taurocholic acid  (EXP,ISO)
taurodeoxycholic acid  (EXP)
tauroursodeoxycholic acid  (ISO)
tectorigenin  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
Tetrachlorobisphenol A  (EXP)
tetrachloromethane  (EXP,ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP)
trichloroethene  (ISO)
triclosan  (EXP)
trifloxystrobin  (EXP)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tris(2-chloroethyl) phosphate  (ISO)
uranium atom  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (EXP,ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vincaleukoblastine  (EXP)
vincristine  (EXP)
vinorelbine  (EXP)
Yangonin  (EXP,ISO)
zinc acetate  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
bile acid and bile salt transport  (ISO,TAS)
bile acid metabolic process  (IEA,ISO)
cell differentiation  (IBA)
cell-cell junction assembly  (IEA)
cellular response to bile acid  (IDA,IEA,IMP)
cellular response to fatty acid  (IDA)
cellular response to lipopolysaccharide  (IEA)
cellular response to xenobiotic stimulus  (ISO)
cholesterol homeostasis  (IEA,ISO)
defense response to bacterium  (IEA)
digestive tract development  (ISO)
fatty acid homeostasis  (IEA)
glucose homeostasis  (IEA)
inflammatory response  (IEA)
innate immune response  (IEA)
intracellular glucose homeostasis  (IEA)
intracellular receptor signaling pathway  (IBA,IEA)
intracellular triglyceride homeostasis  (IDA)
negative regulation of apoptotic process  (IDA)
negative regulation of canonical NF-kappaB signal transduction  (IDA,IEA)
negative regulation of collagen biosynthetic process  (ISO)
negative regulation of inflammatory response  (IBA,IEA)
negative regulation of interleukin-1 production  (IEA)
negative regulation of interleukin-2 production  (IEA)
negative regulation of interleukin-6 production  (IEA)
negative regulation of monocyte chemotactic protein-1 production  (IEA)
negative regulation of NF-kappaB transcription factor activity  (ISO)
negative regulation of transcription by RNA polymerase II  (IBA,IEA,ISO,ISS)
negative regulation of triglyceride biosynthetic process  (ISO)
negative regulation of tumor necrosis factor production  (IDA,IEA)
negative regulation of tumor necrosis factor-mediated signaling pathway  (IEA)
negative regulation of type II interferon production  (IDA,IEA)
negative regulation of very-low-density lipoprotein particle remodeling  (IDA,IEA)
Notch signaling pathway  (IEA,ISO)
nuclear receptor-mediated bile acid signaling pathway  (IDA,IEA,TAS)
positive regulation of adipose tissue development  (IEA)
positive regulation of ammonia assimilation cycle  (IEA)
positive regulation of DNA-templated transcription  (IDA,IEA)
positive regulation of gene expression  (ISO)
positive regulation of glutamate metabolic process  (IEA,ISS)
positive regulation of insulin receptor signaling pathway  (IEA)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (IEA)
positive regulation of interleukin-17 production  (IDA)
positive regulation of phosphatidic acid biosynthetic process  (IDA)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,IMP,ISO)
regulation of bile acid biosynthetic process  (TAS)
regulation of carbohydrate metabolic process  (ISO)
regulation of cholesterol metabolic process  (TAS)
regulation of DNA-templated transcription  (IEA,IMP)
regulation of insulin secretion involved in cellular response to glucose stimulus  (IDA)
regulation of low-density lipoprotein particle clearance  (IDA)
regulation of transcription by RNA polymerase II  (IDA,IEA,ISO)
regulation of urea metabolic process  (IEA,ISS)
response to cholesterol  (ISO)
response to estrogen  (ISO)
response to ethanol  (ISO)
response to glucose  (ISO)
response to lipopolysaccharide  (ISO)
response to norepinephrine  (ISO)
response to nutrient levels  (ISO)
response to xenobiotic stimulus  (ISO)
toll-like receptor 9 signaling pathway  (IEA)
transcription by RNA polymerase II  (IEA,ISO)
triglyceride homeostasis  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Alvarez L, etal., Hum Mol Genet. 2004 Oct 15;13(20):2451-60. Epub 2004 Aug 18.
2. Immunomodulatory glycan LNFPIII alleviates hepatosteatosis and insulin resistance through direct and indirect control of metabolic pathways. Bhargava P, etal., Nat Med. 2012 Nov;18(11):1665-72. doi: 10.1038/nm.2962. Epub 2012 Oct 28.
3. Ageing Fxr deficient mice develop increased energy expenditure, improved glucose control and liver damage resembling NASH. Bjursell M, etal., PLoS One. 2013 May 20;8(5):e64721. doi: 10.1371/journal.pone.0064721. Print 2013.
4. Postprandial FGF19-induced phosphorylation by Src is critical for FXR function in bile acid homeostasis. Byun S, etal., Nat Commun. 2018 Jul 3;9(1):2590. doi: 10.1038/s41467-018-04697-5.
5. Bile salt export pump is dysregulated with altered farnesoid X receptor isoform expression in patients with hepatocellular carcinoma. Chen Y, etal., Hepatology. 2013 Apr;57(4):1530-41. doi: 10.1002/hep.26187. Epub 2013 Feb 15.
6. Impaired VLDL assembly: a novel mechanism contributing to hepatic lipid accumulation following ovariectomy and high-fat/high-cholesterol diets? Côté I, etal., Br J Nutr. 2014 Nov 28;112(10):1592-600. doi: 10.1017/S0007114514002517. Epub 2014 Sep 29.
7. An atherogenic diet decreases liver FXR gene expression and causes severe hepatic steatosis and hepatic cholesterol accumulation: effect of endurance training. Côté I, etal., Eur J Nutr. 2013 Aug;52(5):1523-32. doi: 10.1007/s00394-012-0459-5. Epub 2012 Nov 2.
8. Prevention of spontaneous hepatocarcinogenesis in farnesoid X receptor-null mice by intestinal-specific farnesoid X receptor reactivation. Degirolamo C, etal., Hepatology. 2015 Jan;61(1):161-70. doi: 10.1002/hep.27274. Epub 2014 Oct 30.
9. Glucose regulates the expression of the farnesoid X receptor in liver. Duran-Sandoval D, etal., Diabetes. 2004 Apr;53(4):890-8.
10. Protective effects of 6-ethyl chenodeoxycholic acid, a farnesoid X receptor ligand, in estrogen-induced cholestasis. Fiorucci S, etal., J Pharmacol Exp Ther. 2005 May;313(2):604-12. Epub 2005 Jan 11.
11. Cross-talk between farnesoid-X-receptor (FXR) and peroxisome proliferator-activated receptor gamma contributes to the antifibrotic activity of FXR ligands in rodent models of liver cirrhosis. Fiorucci S, etal., J Pharmacol Exp Ther. 2005 Oct;315(1):58-68. Epub 2005 Jun 24.
12. Identification of a nuclear receptor that is activated by farnesol metabolites. Forman BM, etal., Cell 1995 Jun 2;81(5):687-93.
13. Effects of Farnesoid X Receptor Activation on Arachidonic Acid Metabolism, NF-kB Signaling, and Hepatic Inflammation. Gai Z, etal., Mol Pharmacol. 2018 Aug;94(2):802-811. doi: 10.1124/mol.117.111047. Epub 2018 May 9.
14. Effect of a high-fat diet on the hepatic expression of nuclear receptors and their target genes: relevance to drug disposition. Ghoneim RH, etal., Br J Nutr. 2015 Feb 14;113(3):507-16. doi: 10.1017/S0007114514003717. Epub 2015 Jan 23.
15. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
16. Exploration of Hepatoprotective Effect of Gentiopicroside on Alpha-Naphthylisothiocyanate-Induced Cholestatic Liver Injury in Rats by Comprehensive Proteomic and Metabolomic Signatures. Han H, etal., Cell Physiol Biochem. 2018;49(4):1304-1319. doi: 10.1159/000493409. Epub 2018 Sep 17.
17. Disrupted coordinate regulation of farnesoid X receptor target genes in a patient with cerebrotendinous xanthomatosis. Honda A, etal., J Lipid Res. 2005 Feb;46(2):287-96. Epub 2004 Dec 1.
18. Farnesoid X receptor agonist INT-767 attenuates liver steatosis and inflammation in rat model of nonalcoholic steatohepatitis. Hu YB, etal., Drug Des Devel Ther. 2018 Jul 16;12:2213-2221. doi: 10.2147/DDDT.S170518. eCollection 2018.
19. Reduced triglyceride accumulation due to overactivation of farnesoid X receptor signaling contributes to impaired liver regeneration following 50% hepatectomy in extra‑cholestatic liver tissue. Jia WJ, etal., Mol Med Rep. 2018 Jan;17(1):1545-1554. doi: 10.3892/mmr.2017.8025. Epub 2017 Nov 10.
20. Suppressed hepatic bile acid signalling despite elevated production of primary and secondary bile acids in NAFLD. Jiao N, etal., Gut. 2018 Oct;67(10):1881-1891. doi: 10.1136/gutjnl-2017-314307. Epub 2017 Aug 3.
21. Spontaneous hepatocarcinogenesis in farnesoid X receptor-null mice. Kim I, etal., Carcinogenesis. 2007 May;28(5):940-6. doi: 10.1093/carcin/bgl249. Epub 2006 Dec 20.
22. Serum omentin and vaspin levels in cirrhotic patients with and without portal vein thrombosis. Kukla M, etal., World J Gastroenterol. 2017 Apr 14;23(14):2613-2624. doi: 10.3748/wjg.v23.i14.2613.
23. Activation of the farnesoid X receptor provides protection against acetaminophen-induced hepatic toxicity. Lee FY, etal., Mol Endocrinol. 2010 Aug;24(8):1626-36. doi: 10.1210/me.2010-0117. Epub 2010 Jun 23.
24. Small heterodimer partner overexpression partially protects against liver tumor development in farnesoid X receptor knockout mice. Li G, etal., Toxicol Appl Pharmacol. 2013 Oct 15;272(2):299-305. doi: 10.1016/j.taap.2013.06.016. Epub 2013 Jun 26.
25. Role of AMP-activated protein kinase α1 in 17α-ethinylestradiol-induced cholestasis in rats. Li X, etal., Arch Toxicol. 2017 Jan;91(1):481-494. doi: 10.1007/s00204-016-1697-8. Epub 2016 Apr 18.
26. In vitro efficacy of pro- and anticoagulant strategies in compensated and acutely ill patients with cirrhosis. Lisman T, etal., Liver Int. 2018 Nov;38(11):1988-1996. doi: 10.1111/liv.13882. Epub 2018 May 30.
27. Hepatoprotection by the farnesoid X receptor agonist GW4064 in rat models of intra- and extrahepatic cholestasis. Liu Y, etal., J Clin Invest. 2003 Dec;112(11):1678-87. Epub 2003 Nov 17.
28. Cocarcinogenic effects of intrahepatic bile acid accumulation in cholangiocarcinoma development. Lozano E, etal., Mol Cancer Res. 2014 Jan;12(1):91-100. doi: 10.1158/1541-7786.MCR-13-0503. Epub 2013 Nov 19.
29. Farnesoid X receptor is essential for normal glucose homeostasis. Ma K, etal., J Clin Invest. 2006 Apr;116(4):1102-9. Epub 2006 Mar 23.
30. Insights into hepatic and renal FXR/DDAH-1/eNOS pathway and its role in the potential benefit of rosuvastatin and silymarin in hepatic nephropathy. Magdy YM, etal., Exp Mol Pathol. 2018 Dec;105(3):293-310. doi: 10.1016/j.yexmp.2018.10.004. Epub 2018 Oct 9.
31. Selective activation of nuclear bile acid receptor FXR in the intestine protects mice against cholestasis. Modica S, etal., Gastroenterology. 2012 Feb;142(2):355-65.e1-4. doi: 10.1053/j.gastro.2011.10.028. Epub 2011 Nov 2.
32. The decrease in farnesoid X receptor, pregnane X receptor and constitutive androstane receptor in the liver after intestinal ischemia-reperfusion. Ogura J, etal., J Pharm Pharm Sci. 2012;15(5):616-31. doi: 10.18433/j38c88.
33. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
34. Dysregulation of BSEP and MRP2 May Play an Important Role in Isoniazid-Induced Liver Injury via the SIRT1/FXR Pathway in Rats and HepG2 Cells. Qu X, etal., Biol Pharm Bull. 2018;41(8):1211-1218. doi: 10.1248/bpb.b18-00028.
35. Bile-acid-activated farnesoid X receptor regulates hydrogen sulfide production and hepatic microcirculation. Renga B, etal., World J Gastroenterol. 2009 May 7;15(17):2097-108. doi: 10.3748/wjg.15.2097.
36. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
37. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
38. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
39. Enhanced expression of monocyte tissue factor in patients with liver cirrhosis. Saliola M, etal., Gut. 1998 Sep;43(3):428-32. doi: 10.1136/gut.43.3.428.
40. The FXR agonist PX20606 ameliorates portal hypertension by targeting vascular remodelling and sinusoidal dysfunction. Schwabl P, etal., J Hepatol. 2017 Apr;66(4):724-733. doi: 10.1016/j.jhep.2016.12.005. Epub 2016 Dec 18.
41. Dose-related liver injury of Geniposide associated with the alteration in bile acid synthesis and transportation. Tian J, etal., Sci Rep. 2017 Aug 21;7(1):8938. doi: 10.1038/s41598-017-09131-2.
42. Curative effect of arjunolic acid from Terminalia arjuna in non-alcoholic fatty liver disease models. Toppo E, etal., Biomed Pharmacother. 2018 Nov;107:979-988. doi: 10.1016/j.biopha.2018.08.019. Epub 2018 Aug 23.
43. Evidence of normal thrombin generation in cirrhosis despite abnormal conventional coagulation tests. Tripodi A, etal., Hepatology. 2005 Mar;41(3):553-8. doi: 10.1002/hep.20569.
44. Obeticholic acid, a farnesoid X receptor agonist, improves portal hypertension by two distinct pathways in cirrhotic rats. Verbeke L, etal., Hepatology. 2014 Jun;59(6):2286-98. doi: 10.1002/hep.26939. Epub 2014 Apr 14.
45. Association between low-grade disseminated intravascular coagulation and endotoxemia in patients with liver cirrhosis. Violi F, etal., Gastroenterology. 1995 Aug;109(2):531-9. doi: 10.1016/0016-5085(95)90342-9.
46. Role of farnesoid X receptor in determining hepatic ABC transporter expression and liver injury in bile duct-ligated mice. Wagner M, etal., Gastroenterology. 2003 Sep;125(3):825-38. doi: 10.1016/s0016-5085(03)01068-0.
47. 18β-Glycyrrhetinic acid protects against alpha-naphthylisothiocyanate-induced cholestasis through activation of the Sirt1/FXR signaling pathway. Wu SY, etal., Acta Pharmacol Sin. 2018 Dec;39(12):1865-1873. doi: 10.1038/s41401-018-0110-y. Epub 2018 Jul 30.
48. Dihydroartemisinin protects against alcoholic liver injury through alleviating hepatocyte steatosis in a farnesoid X receptor-dependent manner. Xu W, etal., Toxicol Appl Pharmacol. 2017 Jan 15;315:23-34. doi: 10.1016/j.taap.2016.12.001. Epub 2016 Dec 6.
49. Levels of vitamin K, immunoreactive prothrombin, des-gamma-carboxy prothrombin and gamma-glutamyl carboxylase activity in hepatocellular carcinoma tissue. Yamagata H, etal., J Gastroenterol Hepatol. 1995 Jan-Feb;10(1):8-13. doi: 10.1111/j.1440-1746.1995.tb01040.x.
50. Effects of corilagin on alleviating cholestasis via farnesoid X receptor-associated pathways in vitro and in vivo. Yang F, etal., Br J Pharmacol. 2018 Mar;175(5):810-829. doi: 10.1111/bph.14126. Epub 2018 Jan 25.
51. Spontaneous development of liver tumors in the absence of the bile acid receptor farnesoid X receptor. Yang F, etal., Cancer Res. 2007 Feb 1;67(3):863-7. doi: 10.1158/0008-5472.CAN-06-1078.
52. The ileum-liver Farnesoid X Receptor signaling axis mediates the compensatory mechanism of 17α-ethynylestradiol-induced cholestasis via increasing hepatic biosynthesis of chenodeoxycholic acids in rats. Zhang F, etal., Eur J Pharm Sci. 2018 Oct 15;123:404-415. doi: 10.1016/j.ejps.2018.08.005. Epub 2018 Aug 2.
53. Promotion of liver regeneration/repair by farnesoid X receptor in both liver and intestine in mice. Zhang L, etal., Hepatology. 2012 Dec;56(6):2336-43. doi: 10.1002/hep.25905.
54. Protective effect of dioscin against thioacetamide-induced acute liver injury via FXR/AMPK signaling pathway in vivo. Zheng L, etal., Biomed Pharmacother. 2018 Jan;97:481-488. doi: 10.1016/j.biopha.2017.10.153. Epub 2017 Nov 6.
55. Modulation of transport and metabolism of bile acids and bilirubin by chlorogenic acid against hepatotoxicity and cholestasis in bile duct ligation rats: involvement of SIRT1-mediated deacetylation of FXR and PGC-1α. Zhu L, etal., J Hepatobiliary Pancreat Sci. 2018 Mar;25(3):195-205. doi: 10.1002/jhbp.537.
56. Role of nuclear bile acid receptor, FXR, in adaptive ABC transporter regulation by cholic and ursodeoxycholic acid in mouse liver, kidney and intestine. Zollner G, etal., J Hepatol. 2003 Oct;39(4):480-8. doi: 10.1016/s0168-8278(03)00228-9.
Additional References at PubMed
PMID:7760852   PMID:8835541   PMID:9223286   PMID:10334992   PMID:10334993   PMID:10360171   PMID:10968783   PMID:11030331   PMID:11030332   PMID:11030617   PMID:11136553   PMID:11733517  
PMID:11988537   PMID:12004058   PMID:12062799   PMID:12477932   PMID:12554753   PMID:12660231   PMID:12718892   PMID:12718893   PMID:12754200   PMID:12761213   PMID:12806625   PMID:12815072  
PMID:12891557   PMID:12917342   PMID:14527955   PMID:14684751   PMID:14698205   PMID:14701856   PMID:14988830   PMID:14990788   PMID:15187081   PMID:15202934   PMID:15342685   PMID:15454728  
PMID:15471871   PMID:15564327   PMID:15590640   PMID:15604093   PMID:15604525   PMID:15721319   PMID:15817812   PMID:15911693   PMID:16012168   PMID:16037943   PMID:16038965   PMID:16197915  
PMID:16219912   PMID:16251721   PMID:16269519   PMID:16344560   PMID:16410358   PMID:16423920   PMID:16460270   PMID:16494845   PMID:16614213   PMID:16778009   PMID:16844773   PMID:17047076  
PMID:17054793   PMID:17071613   PMID:17241392   PMID:17272748   PMID:17333335   PMID:17474147   PMID:17495603   PMID:17507182   PMID:17519356   PMID:17681172   PMID:17876519   PMID:17895379  
PMID:17931734   PMID:17988216   PMID:18029909   PMID:18391212   PMID:18436567   PMID:18514055   PMID:18563553   PMID:18621523   PMID:18660489   PMID:18668687   PMID:18676680   PMID:18755856  
PMID:18768987   PMID:18769028   PMID:18779653   PMID:18842595   PMID:18927204   PMID:18972560   PMID:18978041   PMID:19027009   PMID:19028791   PMID:19059462   PMID:19072826   PMID:19105941  
PMID:19150878   PMID:19159286   PMID:19170196   PMID:19195631   PMID:19228886   PMID:19245866   PMID:19274049   PMID:19393742   PMID:19410460   PMID:19556342   PMID:19586769   PMID:19625176  
PMID:19692168   PMID:19833092   PMID:19864602   PMID:19883617   PMID:19910507   PMID:19913569   PMID:19948975   PMID:19996107   PMID:20026603   PMID:20095622   PMID:20189675   PMID:20338915  
PMID:20346360   PMID:20373033   PMID:20399894   PMID:20447400   PMID:20827719   PMID:20855565   PMID:20883210   PMID:21242261   PMID:21296199   PMID:21323950   PMID:21330447   PMID:21364590  
PMID:21431940   PMID:21532585   PMID:21596433   PMID:21619550   PMID:21633855   PMID:21757002   PMID:21856289   PMID:21862343   PMID:21873635   PMID:21887309   PMID:21893226   PMID:21988803  
PMID:22146319   PMID:22223860   PMID:22252013   PMID:22265968   PMID:22266736   PMID:22285937   PMID:22345554   PMID:22446874   PMID:22474109   PMID:22550135   PMID:22558273   PMID:22561792  
PMID:22609541   PMID:22632967   PMID:22817871   PMID:22898327   PMID:22929053   PMID:22952826   PMID:22969091   PMID:23042943   PMID:23056173   PMID:23119029   PMID:23251605   PMID:23341777  
PMID:23348121   PMID:23462506   PMID:23507574   PMID:23519696   PMID:23530060   PMID:23546875   PMID:23620138   PMID:23640969   PMID:23703321   PMID:23767959   PMID:23784309   PMID:23861371  
PMID:23916961   PMID:23928191   PMID:24002920   PMID:24037988   PMID:24043304   PMID:24169962   PMID:24211198   PMID:24297698   PMID:24321096   PMID:24498169   PMID:24531544   PMID:24670636  
PMID:25043081   PMID:25086996   PMID:25138215   PMID:25198545   PMID:25242139   PMID:25257666   PMID:25363753   PMID:25383523   PMID:25383539   PMID:25400456   PMID:25496033   PMID:25596928  
PMID:25655198   PMID:25675114   PMID:26019035   PMID:26134028   PMID:26241054   PMID:26292095   PMID:26302777   PMID:26305715   PMID:26416445   PMID:26488943   PMID:26607331   PMID:26670557  
PMID:26728993   PMID:26871637   PMID:26888176   PMID:26899873   PMID:27045028   PMID:27109477   PMID:27138288   PMID:27251172   PMID:27471003   PMID:27596062   PMID:27738335   PMID:27758768  
PMID:27846919   PMID:27853248   PMID:28201649   PMID:28287408   PMID:28400119   PMID:28402278   PMID:28485172   PMID:28496032   PMID:28514442   PMID:28535186   PMID:28619996   PMID:28746779  
PMID:28762281   PMID:28916388   PMID:28970500   PMID:29377207   PMID:29771182   PMID:29921626   PMID:29929982   PMID:29958417   PMID:30013008   PMID:30106441   PMID:30176263   PMID:30206765  
PMID:30275017   PMID:30354208   PMID:30366773   PMID:30745168   PMID:30844798   PMID:30884797   PMID:30967475   PMID:31062417   PMID:31105019   PMID:31266946   PMID:31623375   PMID:31779647  
PMID:31949131   PMID:32001246   PMID:32001325   PMID:32296183   PMID:32299194   PMID:32581266   PMID:32597704   PMID:32650752   PMID:32678214   PMID:32712104   PMID:32807788   PMID:32846898  
PMID:33029898   PMID:33568795   PMID:33686512   PMID:33938457   PMID:33961781   PMID:33968024   PMID:34090620   PMID:34145381   PMID:34268860   PMID:34270928   PMID:34289507   PMID:34461288  
PMID:34510400   PMID:34995680   PMID:35091108   PMID:35251469   PMID:35347542   PMID:35436901   PMID:35563650   PMID:35767918   PMID:35988420   PMID:36090996   PMID:36108118   PMID:36129029  
PMID:36340269   PMID:36430444   PMID:36737665   PMID:36805269   PMID:36939994   PMID:37337149   PMID:37487659   PMID:37697930   PMID:37823198   PMID:37903763   PMID:37918680   PMID:38183609  
PMID:38493698   PMID:38641832   PMID:38932276  


Genomics

Comparative Map Data
NR1H4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812100,473,866 - 100,564,414 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12100,473,708 - 100,564,414 (+)EnsemblGRCh38hg38GRCh38
GRCh3712100,867,644 - 100,958,192 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361299,391,810 - 99,481,774 (+)NCBINCBI36Build 36hg18NCBI36
Build 341299,370,146 - 99,460,111NCBI
Celera12100,532,992 - 100,622,995 (+)NCBICelera
Cytogenetic Map12q23.1NCBI
HuRef1297,928,334 - 98,018,410 (+)NCBIHuRef
CHM1_112100,833,597 - 100,923,679 (+)NCBICHM1_1
T2T-CHM13v2.012100,435,311 - 100,525,835 (+)NCBIT2T-CHM13v2.0
Nr1h4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391089,290,096 - 89,369,484 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1089,290,096 - 89,369,447 (-)EnsemblGRCm39 Ensembl
GRCm381089,454,234 - 89,533,645 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1089,454,234 - 89,533,585 (-)EnsemblGRCm38mm10GRCm38
MGSCv371088,916,979 - 88,996,367 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361088,884,177 - 88,936,426 (-)NCBIMGSCv36mm8
Celera1091,441,224 - 91,574,747 (-)NCBICelera
Cytogenetic Map10C2NCBI
cM Map1044.98NCBI
Nr1h4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8725,733,471 - 25,829,440 (-)NCBIGRCr8
mRatBN7.2723,846,122 - 23,942,085 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl723,846,122 - 23,942,047 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx725,840,659 - 25,936,578 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0728,003,082 - 28,099,010 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0727,780,396 - 27,876,311 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0730,003,429 - 30,162,095 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl730,003,429 - 30,162,056 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0730,170,397 - 30,214,796 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0730,104,960 - 30,107,142 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4726,189,759 - 26,307,061 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1726,210,029 - 26,327,332 (-)NCBI
Celera720,992,814 - 21,085,820 (-)NCBICelera
Cytogenetic Map7q13NCBI
Nr1h4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540536,160,049 - 36,237,751 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540536,160,360 - 36,236,258 (+)NCBIChiLan1.0ChiLan1.0
NR1H4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210108,557,041 - 108,627,402 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112108,553,438 - 108,623,792 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01298,052,778 - 98,144,085 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112101,457,885 - 101,548,058 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12101,457,885 - 101,548,058 (+)Ensemblpanpan1.1panPan2
NR1H4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11539,497,313 - 39,608,120 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1539,536,290 - 39,608,116 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1539,876,387 - 39,987,365 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01540,161,103 - 40,272,109 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1540,200,071 - 40,271,741 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11539,418,531 - 39,529,420 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01539,525,061 - 39,636,033 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01539,799,183 - 39,910,169 (+)NCBIUU_Cfam_GSD_1.0
Nr1h4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494520,304,852 - 20,379,409 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649213,315,265 - 13,374,034 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649213,315,265 - 13,365,186 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NR1H4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl583,604,294 - 83,684,604 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1583,607,222 - 83,732,668 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2587,754,914 - 87,828,507 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NR1H4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11195,792,428 - 95,877,989 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1195,792,996 - 95,878,293 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037149,156,310 - 149,247,016 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nr1h4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247507,219,251 - 7,303,834 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247507,222,306 - 7,303,809 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NR1H4
137 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001206979.2(NR1H4):c.658G>T (p.Ala220Ser) single nucleotide variant NR1H4-related disorder [RCV003396302]|not provided [RCV000727990] Chr12:100534949 [GRCh38]
Chr12:100928727 [GRCh37]
Chr12:12q23.1		 likely benign|uncertain significance
NM_001206979.2(NR1H4):c.1322T>C (p.Leu441Pro) single nucleotide variant not provided [RCV000729788] Chr12:100563380 [GRCh38]
Chr12:100957158 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1174A>G (p.Ile392Val) single nucleotide variant not provided [RCV000728124] Chr12:100561980 [GRCh38]
Chr12:100955758 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.345C>T (p.Gly115=) single nucleotide variant NR1H4-related disorder [RCV003892601]|not provided [RCV000728189] Chr12:100511043 [GRCh38]
Chr12:100904821 [GRCh37]
Chr12:12q23.1		 likely benign|uncertain significance
NM_001206979.2(NR1H4):c.733-2A>G single nucleotide variant not provided [RCV000728282] Chr12:100536510 [GRCh38]
Chr12:100930288 [GRCh37]
Chr12:12q23.1		 likely pathogenic
NM_001206979.2(NR1H4):c.725C>T (p.Ser242Leu) single nucleotide variant Inborn genetic diseases [RCV004026975]|not provided [RCV000729580] Chr12:100535016 [GRCh38]
Chr12:100928794 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1079-8C>T single nucleotide variant NR1H4-related disorder [RCV004754542]|not provided [RCV000729133] Chr12:100561877 [GRCh38]
Chr12:100955655 [GRCh37]
Chr12:12q23.1		 likely benign|uncertain significance
NM_001206992.1(NR1H4):c.92G>A (p.Ser31Asn) single nucleotide variant Malignant melanoma [RCV000070271] Chr12:100503479 [GRCh38]
Chr12:100897257 [GRCh37]
Chr12:99421388 [NCBI36]
Chr12:12q23.1		 not provided
NM_001206977.1(NR1H4):c.1033C>T (p.Pro345Ser) single nucleotide variant Malignant melanoma [RCV000070272] Chr12:100540773 [GRCh38]
Chr12:100934551 [GRCh37]
Chr12:99458682 [NCBI36]
Chr12:12q23.1		 not provided
GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3 copy number gain See cases [RCV000137891] Chr12:97394550..101410225 [GRCh38]
Chr12:97788328..101804003 [GRCh37]
Chr12:96312459..100328134 [NCBI36]
Chr12:12q23.1-23.2		 likely pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11		 pathogenic
NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 5 [RCV000239570]|NR1H4-related disorder [RCV004754356]|Progressive familial intrahepatic cholestasis type 1 [RCV000240831]|not provided [RCV002515513] Chr12:100532538 [GRCh38]
Chr12:100926316 [GRCh37]
Chr12:12q23.1		 pathogenic
NM_001206979.2(NR1H4):c.419_420insAAA (p.Tyr139_Asn140insLys) insertion Cholestasis, progressive familial intrahepatic, 5 [RCV000239480]|NR1H4-related disorder [RCV004754355]|Progressive familial intrahepatic cholestasis type 1 [RCV000240839] Chr12:100511115..100511116 [GRCh38]
Chr12:100904893..100904894 [GRCh37]
Chr12:12q23.1		 pathogenic|uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NR1H4, 3-BP INS, 419AAA insertion Cholestasis, progressive familial intrahepatic, 5 [RCV000239480] Chr12:12q23.1 pathogenic
NR1H4, 31.7-KB DEL deletion Cholestasis, progressive familial intrahepatic, 5 [RCV000239533] Chr12:12q23.1 pathogenic
NR1H4, ARG176TER variation Cholestasis, progressive familial intrahepatic, 5 [RCV000239570]   pathogenic
NM_001206979.2(NR1H4):c.931+19A>C single nucleotide variant not provided [RCV002519922]|not specified [RCV000244740] Chr12:100537066 [GRCh38]
Chr12:100930844 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.832-16T>A single nucleotide variant not provided [RCV001683050]|not specified [RCV000252111] Chr12:100536932 [GRCh38]
Chr12:100930710 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.1245T>C (p.Leu415=) single nucleotide variant not provided [RCV000726961]|not specified [RCV000247357] Chr12:100563303 [GRCh38]
Chr12:100957081 [GRCh37]
Chr12:12q23.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001206979.2(NR1H4):c.-1G>T single nucleotide variant not provided [RCV004706726]|not specified [RCV000242576] Chr12:100493323 [GRCh38]
Chr12:100887101 [GRCh37]
Chr12:12q23.1		 benign
NG_029843.1:g.23704_55438del deletion Cholestasis, progressive familial intrahepatic, 5 [RCV003231403]|Progressive familial intrahepatic cholestasis type 1 [RCV000240814] Chr12:100492476..100524210 [GRCh38]
Chr12:100886254..100917988 [GRCh37]
Chr12:12q23.1		 pathogenic
NM_001206979.2(NR1H4):c.518T>C (p.Met173Thr) single nucleotide variant NR1H4-related disorder [RCV003920174]|not provided [RCV000886965]|not specified [RCV000303836] Chr12:100532530 [GRCh38]
Chr12:100926308 [GRCh37]
Chr12:12q23.1		 likely benign|uncertain significance
NM_001206979.2(NR1H4):c.107C>T (p.Pro36Leu) single nucleotide variant not provided [RCV000347594] Chr12:100510805 [GRCh38]
Chr12:100904583 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.893A>G (p.His298Arg) single nucleotide variant not provided [RCV000383408] Chr12:100537009 [GRCh38]
Chr12:100930787 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.18T>C (p.Asn6=) single nucleotide variant not provided [RCV000280134] Chr12:100493341 [GRCh38]
Chr12:100887119 [GRCh37]
Chr12:12q23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001206979.2(NR1H4):c.732+6A>G single nucleotide variant not provided [RCV002518039]|not specified [RCV000315552] Chr12:100535029 [GRCh38]
Chr12:100928807 [GRCh37]
Chr12:12q23.1		 likely benign|uncertain significance
NM_001206979.2(NR1H4):c.438G>A (p.Gly146=) single nucleotide variant not provided [RCV000398943] Chr12:100511136 [GRCh38]
Chr12:100904914 [GRCh37]
Chr12:12q23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001206979.2(NR1H4):c.655C>T (p.His219Tyr) single nucleotide variant NR1H4-related disorder [RCV004754491]|not provided [RCV000598009] Chr12:100534946 [GRCh38]
Chr12:100928724 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.511A>G (p.Met171Val) single nucleotide variant Inborn genetic diseases [RCV003246022] Chr12:100532523 [GRCh38]
Chr12:100926301 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.831+1G>A single nucleotide variant NR1H4-related disorder [RCV004754482]|not provided [RCV000597819] Chr12:100536611 [GRCh38]
Chr12:100930389 [GRCh37]
Chr12:12q23.1		 likely pathogenic
NM_001206979.2(NR1H4):c.1072A>C (p.Asn358His) single nucleotide variant Inborn genetic diseases [RCV002532640]|NR1H4-related disorder [RCV004754490]|not provided [RCV000591860] Chr12:100540812 [GRCh38]
Chr12:100934590 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1359G>T (p.Glu453Asp) single nucleotide variant not provided [RCV000592759] Chr12:100563417 [GRCh38]
Chr12:100957195 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.302C>T (p.Thr101Ile) single nucleotide variant NR1H4-related disorder [RCV003905525]|not provided [RCV000598511] Chr12:100511000 [GRCh38]
Chr12:100904778 [GRCh37]
Chr12:12q23.1		 likely benign|uncertain significance
NM_001206979.2(NR1H4):c.547C>T (p.Arg183Ter) single nucleotide variant not provided [RCV000592993] Chr12:100532559 [GRCh38]
Chr12:100926337 [GRCh37]
Chr12:12q23.1		 pathogenic
NM_001206979.2(NR1H4):c.963T>C (p.Ile321=) single nucleotide variant NR1H4-related disorder [RCV003900311]|not provided [RCV000593413] Chr12:100540703 [GRCh38]
Chr12:100934481 [GRCh37]
Chr12:12q23.1		 likely benign|uncertain significance
NM_001206979.2(NR1H4):c.1A>G (p.Met1Val) single nucleotide variant Cholestasis, progressive familial intrahepatic, 5 [RCV002485880]|not provided [RCV000730678] Chr12:100493324 [GRCh38]
Chr12:100887102 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.428C>T (p.Thr143Ile) single nucleotide variant not provided [RCV000731124] Chr12:100511126 [GRCh38]
Chr12:100904904 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.479T>C (p.Val160Ala) single nucleotide variant not provided [RCV000732994] Chr12:100532491 [GRCh38]
Chr12:100926269 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1106T>C (p.Met369Thr) single nucleotide variant not provided [RCV000729567] Chr12:100561912 [GRCh38]
Chr12:100955690 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.588T>C (p.Cys196=) single nucleotide variant not provided [RCV000731264] Chr12:100532600 [GRCh38]
Chr12:100926378 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1353C>T (p.His451=) single nucleotide variant not provided [RCV000732102] Chr12:100563411 [GRCh38]
Chr12:100957189 [GRCh37]
Chr12:12q23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001206979.2(NR1H4):c.750C>T (p.Thr250=) single nucleotide variant not provided [RCV000733120] Chr12:100536529 [GRCh38]
Chr12:100930307 [GRCh37]
Chr12:12q23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001206979.2(NR1H4):c.933A>T (p.Gly311=) single nucleotide variant not provided [RCV000735151] Chr12:100540673 [GRCh38]
Chr12:100934451 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.445+5G>A single nucleotide variant not provided [RCV000728549] Chr12:100511148 [GRCh38]
Chr12:100904926 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.147C>T (p.Tyr49=) single nucleotide variant not provided [RCV000734101] Chr12:100510845 [GRCh38]
Chr12:100904623 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.141G>T (p.Ser47=) single nucleotide variant not provided [RCV000734154] Chr12:100510839 [GRCh38]
Chr12:100904617 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.923dup (p.Leu309fs) duplication not provided [RCV000734777] Chr12:100537033..100537034 [GRCh38]
Chr12:100930811..100930812 [GRCh37]
Chr12:12q23.1		 likely pathogenic
NM_001206979.2(NR1H4):c.1319G>A (p.Arg440His) single nucleotide variant not provided [RCV000732869] Chr12:100563377 [GRCh38]
Chr12:100957155 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.268C>T (p.Arg90Cys) single nucleotide variant Cholestasis, progressive familial intrahepatic, 5 [RCV003133580]|not provided [RCV000731778] Chr12:100510966 [GRCh38]
Chr12:100904744 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.740C>T (p.Thr247Ile) single nucleotide variant Inborn genetic diseases [RCV004649299]|NR1H4-related disorder [RCV004754543]|not provided [RCV000729173] Chr12:100536519 [GRCh38]
Chr12:100930297 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1376G>A (p.Arg459Lys) single nucleotide variant Inborn genetic diseases [RCV003243287]|not provided [RCV000734918] Chr12:100563434 [GRCh38]
Chr12:100957212 [GRCh37]
Chr12:12q23.1		 uncertain significance
GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)x3 copy number gain See cases [RCV000445929] Chr12:100580198..105804075 [GRCh37]
Chr12:12q23.1-23.3		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q23.1-23.2(chr12:100667424-101651880)x3 copy number gain See cases [RCV000510816] Chr12:100667424..101651880 [GRCh37]
Chr12:12q23.1-23.2		 uncertain significance
NM_001206979.2(NR1H4):c.795C>T (p.Asn265=) single nucleotide variant not provided [RCV000594028] Chr12:100536574 [GRCh38]
Chr12:100930352 [GRCh37]
Chr12:12q23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001206979.2(NR1H4):c.622A>G (p.Lys208Glu) single nucleotide variant Inborn genetic diseases [RCV003250045] Chr12:100534913 [GRCh38]
Chr12:100928691 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.900G>A (p.Gln300=) single nucleotide variant not provided [RCV000596434] Chr12:100537016 [GRCh38]
Chr12:100930794 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.984G>A (p.Ala328=) single nucleotide variant not provided [RCV000597705] Chr12:100540724 [GRCh38]
Chr12:100934502 [GRCh37]
Chr12:12q23.1		 uncertain significance
GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3 copy number gain not provided [RCV000683473] Chr12:96719383..101537641 [GRCh37]
Chr12:12q23.1		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q22-23.2(chr12:94881995-103635998)x3 copy number gain not provided [RCV000750524] Chr12:94881995..103635998 [GRCh37]
Chr12:12q22-23.2		 pathogenic
NM_001206979.2(NR1H4):c.1034del (p.Pro345fs) deletion Cholestasis, progressive familial intrahepatic, 5 [RCV000991448] Chr12:100540773 [GRCh38]
Chr12:100934551 [GRCh37]
Chr12:12q23.1		 likely pathogenic
NM_001206979.2(NR1H4):c.82G>A (p.Val28Ile) single nucleotide variant not provided [RCV000883361] Chr12:100510780 [GRCh38]
Chr12:100904558 [GRCh37]
Chr12:12q23.1		 benign
GRCh37/hg19 12q23.1(chr12:100880334-101045578)x3 copy number gain not provided [RCV000848903] Chr12:100880334..101045578 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.733-26C>T single nucleotide variant not provided [RCV001641615] Chr12:100536486 [GRCh38]
Chr12:100930264 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.1078+195A>G single nucleotide variant not provided [RCV001638631] Chr12:100541013 [GRCh38]
Chr12:100934791 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.-54-205G>A single nucleotide variant not provided [RCV001685794] Chr12:100493065 [GRCh38]
Chr12:100886843 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.831+8T>A single nucleotide variant not provided [RCV000959328] Chr12:100536618 [GRCh38]
Chr12:100930396 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.445+295T>G single nucleotide variant not provided [RCV001636530] Chr12:100511438 [GRCh38]
Chr12:100905216 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.80-7340C>T single nucleotide variant not provided [RCV001608435] Chr12:100503438 [GRCh38]
Chr12:100897216 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.80-108del deletion not provided [RCV001659590] Chr12:100510670 [GRCh38]
Chr12:100904448 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.598+186G>A single nucleotide variant not provided [RCV001659591] Chr12:100532796 [GRCh38]
Chr12:100926574 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.1079-285C>G single nucleotide variant not provided [RCV001595964] Chr12:100561600 [GRCh38]
Chr12:100955378 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.-54-202C>T single nucleotide variant not provided [RCV001721791] Chr12:100493068 [GRCh38]
Chr12:100886846 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.1078+249C>G single nucleotide variant not provided [RCV001689360] Chr12:100541067 [GRCh38]
Chr12:100934845 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.80-7325G>A single nucleotide variant not provided [RCV001684405] Chr12:100503453 [GRCh38]
Chr12:100897231 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.80-170TA[13] microsatellite not provided [RCV001650244] Chr12:100510608..100510609 [GRCh38]
Chr12:100904386..100904387 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.733-77C>G single nucleotide variant not provided [RCV001612425] Chr12:100536435 [GRCh38]
Chr12:100930213 [GRCh37]
Chr12:12q23.1		 benign
GRCh37/hg19 12q23.1(chr12:100815231-100990942)x1 copy number loss not provided [RCV001006524] Chr12:100815231..100990942 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.79+121T>C single nucleotide variant not provided [RCV001684836] Chr12:100493523 [GRCh38]
Chr12:100887301 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.832-31T>A single nucleotide variant not provided [RCV001654380] Chr12:100536917 [GRCh38]
Chr12:100930695 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.80-7147A>G single nucleotide variant not provided [RCV001710837] Chr12:100503631 [GRCh38]
Chr12:100897409 [GRCh37]
Chr12:12q23.1		 benign
NM_001206979.2(NR1H4):c.831+1G>T single nucleotide variant Cholestasis, progressive familial intrahepatic, 5 [RCV002244148] Chr12:100536611 [GRCh38]
Chr12:100930389 [GRCh37]
Chr12:12q23.1		 likely pathogenic
NM_001206979.2(NR1H4):c.80-5155C>G single nucleotide variant not provided [RCV001726883] Chr12:100505623 [GRCh38]
Chr12:100899401 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.91G>T (p.Glu31Ter) single nucleotide variant not provided [RCV002254509] Chr12:100510789 [GRCh38]
Chr12:100904567 [GRCh37]
Chr12:12q23.1		 likely pathogenic
NM_001206979.2(NR1H4):c.887C>T (p.Thr296Ile) single nucleotide variant Cholestasis, progressive familial intrahepatic, 5 [RCV001824258] Chr12:100537003 [GRCh38]
Chr12:100930781 [GRCh37]
Chr12:12q23.1		 likely pathogenic
GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075) copy number loss not specified [RCV002053013] Chr12:100564593..103021075 [GRCh37]
Chr12:12q23.1-23.2		 uncertain significance
GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075) copy number gain not specified [RCV002053014] Chr12:100580198..105804075 [GRCh37]
Chr12:12q23.1-23.3		 uncertain significance
NM_001206979.2(NR1H4):c.188C>T (p.Ser63Leu) single nucleotide variant not provided [RCV001904580] Chr12:100510886 [GRCh38]
Chr12:100904664 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1038T>G (p.Ser346=) single nucleotide variant not provided [RCV002210601] Chr12:100540778 [GRCh38]
Chr12:100934556 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.180G>A (p.Gln60=) single nucleotide variant not provided [RCV002100534] Chr12:100510878 [GRCh38]
Chr12:100904656 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.374A>G (p.Glu125Gly) single nucleotide variant not provided [RCV002261947] Chr12:100511072 [GRCh38]
Chr12:100904850 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1343A>G (p.Asn448Ser) single nucleotide variant Inborn genetic diseases [RCV004047511]|not provided [RCV002276376] Chr12:100563401 [GRCh38]
Chr12:100957179 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.47C>T (p.Thr16Ile) single nucleotide variant not provided [RCV002616884] Chr12:100493370 [GRCh38]
Chr12:100887148 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.764C>G (p.Thr255Ser) single nucleotide variant Inborn genetic diseases [RCV002860544] Chr12:100536543 [GRCh38]
Chr12:100930321 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.316A>T (p.Met106Leu) single nucleotide variant Inborn genetic diseases [RCV002901665] Chr12:100511014 [GRCh38]
Chr12:100904792 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.426G>A (p.Leu142=) single nucleotide variant not provided [RCV002616667] Chr12:100511124 [GRCh38]
Chr12:100904902 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.692G>A (p.Arg231His) single nucleotide variant Inborn genetic diseases [RCV002734578] Chr12:100534983 [GRCh38]
Chr12:100928761 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1121A>G (p.Lys374Arg) single nucleotide variant Inborn genetic diseases [RCV002818375] Chr12:100561927 [GRCh38]
Chr12:100955705 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1003C>T (p.Arg335Cys) single nucleotide variant Inborn genetic diseases [RCV002785197] Chr12:100540743 [GRCh38]
Chr12:100934521 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1153G>A (p.Glu385Lys) single nucleotide variant Inborn genetic diseases [RCV002713710] Chr12:100561959 [GRCh38]
Chr12:100955737 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.80-12A>G single nucleotide variant not provided [RCV002598199] Chr12:100510766 [GRCh38]
Chr12:100904544 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.573A>C (p.Gly191=) single nucleotide variant not provided [RCV002635177] Chr12:100532585 [GRCh38]
Chr12:100926363 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.875C>T (p.Thr292Met) single nucleotide variant Inborn genetic diseases [RCV004960857]|not provided [RCV002944298] Chr12:100536991 [GRCh38]
Chr12:100930769 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.380G>A (p.Cys127Tyr) single nucleotide variant Cholestasis, progressive familial intrahepatic, 5 [RCV003131827] Chr12:100511078 [GRCh38]
Chr12:100904856 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1058A>C (p.Glu353Ala) single nucleotide variant Inborn genetic diseases [RCV003381554] Chr12:100540798 [GRCh38]
Chr12:100934576 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.80-7395T>A single nucleotide variant NR1H4-related disorder [RCV003427972] Chr12:100503383 [GRCh38]
Chr12:100897161 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1282C>G (p.Pro428Ala) single nucleotide variant not provided [RCV003482079] Chr12:100563340 [GRCh38]
Chr12:100957118 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.976G>C (p.Gly326Arg) single nucleotide variant Cholestasis, progressive familial intrahepatic, 5 [RCV003492891] Chr12:100540716 [GRCh38]
Chr12:100934494 [GRCh37]
Chr12:12q23.1		 likely pathogenic
NM_001206979.2(NR1H4):c.832-20G>T single nucleotide variant not provided [RCV003881810] Chr12:100536928 [GRCh38]
Chr12:100930706 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.1280del (p.Gln427fs) deletion Cholestasis, progressive familial intrahepatic, 5 [RCV003492890] Chr12:100563338 [GRCh38]
Chr12:100957116 [GRCh37]
Chr12:12q23.1		 pathogenic
NM_001206979.2(NR1H4):c.654G>A (p.Gln218=) single nucleotide variant NR1H4-related disorder [RCV003984434]|not provided [RCV003835846] Chr12:100534945 [GRCh38]
Chr12:100928723 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.1182C>A (p.Ile394=) single nucleotide variant not provided [RCV003666533] Chr12:100561988 [GRCh38]
Chr12:100955766 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.565G>T (p.Glu189Ter) single nucleotide variant not provided [RCV003678817] Chr12:100532577 [GRCh38]
Chr12:100926355 [GRCh37]
Chr12:12q23.1		 pathogenic
NM_001206979.2(NR1H4):c.495C>T (p.Asn165=) single nucleotide variant not provided [RCV003729882] Chr12:100532507 [GRCh38]
Chr12:100926285 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.446-7C>T single nucleotide variant NR1H4-related disorder [RCV003894174] Chr12:100532451 [GRCh38]
Chr12:100926229 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.883G>T (p.Ala295Ser) single nucleotide variant Cholestasis, progressive familial intrahepatic, 5 [RCV003989939] Chr12:100536999 [GRCh38]
Chr12:100930777 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.669C>A (p.Thr223=) single nucleotide variant NR1H4-related disorder [RCV003894311] Chr12:100534960 [GRCh38]
Chr12:100928738 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.1098A>G (p.Ile366Met) single nucleotide variant Inborn genetic diseases [RCV004491233] Chr12:100561904 [GRCh38]
Chr12:100955682 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.463A>G (p.Ile155Val) single nucleotide variant Inborn genetic diseases [RCV004491236] Chr12:100532475 [GRCh38]
Chr12:100926253 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.80-7329C>T single nucleotide variant not provided [RCV004546374] Chr12:100503449 [GRCh38]
Chr12:100897227 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.474C>T (p.Asn158=) single nucleotide variant NR1H4-related disorder [RCV003951885] Chr12:100532486 [GRCh38]
Chr12:100926264 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.117G>A (p.Gln39=) single nucleotide variant NR1H4-related disorder [RCV003904729] Chr12:100510815 [GRCh38]
Chr12:100904593 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.400G>A (p.Ala134Thr) single nucleotide variant Inborn genetic diseases [RCV004491235] Chr12:100511098 [GRCh38]
Chr12:100904876 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1079-10T>C single nucleotide variant NR1H4-related disorder [RCV003893595] Chr12:100561875 [GRCh38]
Chr12:100955653 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.80-7328G>A single nucleotide variant NR1H4-related disorder [RCV003921588] Chr12:100503450 [GRCh38]
Chr12:100897228 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.1333C>A (p.Arg445=) single nucleotide variant NR1H4-related disorder [RCV003967186] Chr12:100563391 [GRCh38]
Chr12:100957169 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.79G>T (p.Gly27Cys) single nucleotide variant Cholestasis, progressive familial intrahepatic, 5 [RCV004557240] Chr12:100493402 [GRCh38]
Chr12:100887180 [GRCh37]
Chr12:12q23.1		 pathogenic
NM_001206979.2(NR1H4):c.1186T>C (p.Ser396Pro) single nucleotide variant not provided [RCV004547176] Chr12:100561992 [GRCh38]
Chr12:100955770 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.80-7273C>G single nucleotide variant NR1H4-related disorder [RCV003904591] Chr12:100503505 [GRCh38]
Chr12:100897283 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.765T>G (p.Thr255=) single nucleotide variant NR1H4-related disorder [RCV003898939] Chr12:100536544 [GRCh38]
Chr12:100930322 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.1152G>A (p.Glu384=) single nucleotide variant NR1H4-related disorder [RCV003971441] Chr12:100561958 [GRCh38]
Chr12:100955736 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.766C>T (p.Leu256Phe) single nucleotide variant Inborn genetic diseases [RCV004650372] Chr12:100536545 [GRCh38]
Chr12:100930323 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.80-7366G>T single nucleotide variant NR1H4-related disorder [RCV004755319] Chr12:100503412 [GRCh38]
Chr12:100897190 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.32C>T (p.Ser11Phe) single nucleotide variant NR1H4-related disorder [RCV004754167] Chr12:100493355 [GRCh38]
Chr12:100887133 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1069C>A (p.Arg357=) single nucleotide variant NR1H4-related disorder [RCV004730409] Chr12:100540809 [GRCh38]
Chr12:100934587 [GRCh37]
Chr12:12q23.1		 likely benign
NM_001206979.2(NR1H4):c.341T>C (p.Met114Thr) single nucleotide variant NR1H4-related disorder [RCV004755625] Chr12:100511039 [GRCh38]
Chr12:100904817 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.732G>A (p.Arg244=) single nucleotide variant NR1H4-related disorder [RCV004755669] Chr12:100535023 [GRCh38]
Chr12:100928801 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.596C>T (p.Thr199Ile) single nucleotide variant NR1H4-related disorder [RCV004730459] Chr12:100532608 [GRCh38]
Chr12:100926386 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1211A>G (p.Asp404Gly) single nucleotide variant Cholestasis, progressive familial intrahepatic, 5 [RCV005006759] Chr12:100563269 [GRCh38]
Chr12:100957047 [GRCh37]
Chr12:12q23.1		 uncertain significance
GRCh37/hg19 12q23.1-23.2(chr12:99848062-103511070)x1 copy number loss not provided [RCV004819851] Chr12:99848062..103511070 [GRCh37]
Chr12:12q23.1-23.2		 uncertain significance
NM_001206979.2(NR1H4):c.836A>T (p.Lys279Ile) single nucleotide variant Inborn genetic diseases [RCV004953927] Chr12:100536952 [GRCh38]
Chr12:100930730 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.140C>T (p.Ser47Leu) single nucleotide variant Inborn genetic diseases [RCV004953925] Chr12:100510838 [GRCh38]
Chr12:100904616 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.235G>A (p.Glu79Lys) single nucleotide variant Inborn genetic diseases [RCV004953928] Chr12:100510933 [GRCh38]
Chr12:100904711 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.247C>G (p.Pro83Ala) single nucleotide variant Inborn genetic diseases [RCV004953926] Chr12:100510945 [GRCh38]
Chr12:100904723 [GRCh37]
Chr12:12q23.1		 uncertain significance
NM_001206979.2(NR1H4):c.1349A>T (p.His450Leu) single nucleotide variant Inborn genetic diseases [RCV004953929] Chr12:100563407 [GRCh38]
Chr12:100957185 [GRCh37]
Chr12:12q23.1		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR421hsa-miR-421OncomiRDBexternal_infoNANA22446874
MIR421hsa-miR-421OncomiRDBexternal_infoNANA22146319

Predicted Target Of
Summary Value
Count of predictions:1428
Count of miRNA genes:589
Interacting mature miRNAs:654
Transcripts:ENST00000188403, ENST00000321046, ENST00000392986, ENST00000546380, ENST00000548621, ENST00000548884, ENST00000549996, ENST00000551184, ENST00000551379
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597190744GWAS1286818_Hsex hormone-binding globulin measurement QTL GWAS1286818 (human)9e-60sex hormone-binding globulin measurement12100532530100532531Human
597343515GWAS1439589_Hbody fat percentage QTL GWAS1439589 (human)8e-17body fat mass (VT:0010482)body fat percentage (CMO:0000302)12100532530100532531Human
1559125SPSL2_HSerum P-selectin level QTL 2 (human)2.59Serum P-selectin level1289897665115897665Human
597119316GWAS1215390_Hsex hormone-binding globulin measurement QTL GWAS1215390 (human)1e-143sex hormone-binding globulin measurement12100532530100532531Human
597105297GWAS1201371_Hsex hormone-binding globulin measurement QTL GWAS1201371 (human)5e-52sex hormone-binding globulin measurement12100532530100532531Human
597486299GWAS1582373_HCleft palate, cleft lip QTL GWAS1582373 (human)0.000008Cleft palate, cleft lip12100543404100543405Human
597119071GWAS1215145_Halkaline phosphatase measurement QTL GWAS1215145 (human)3e-10alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)12100532530100532531Human
597048351GWAS1144425_HC-reactive protein measurement QTL GWAS1144425 (human)3e-11C-reactive protein measurementblood C-reactive protein level (CMO:0003160)12100482854100482855Human
597143454GWAS1239528_Hlow density lipoprotein cholesterol measurement QTL GWAS1239528 (human)2e-23low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)12100493065100493066Human
597197397GWAS1293471_Hlow density lipoprotein cholesterol measurement QTL GWAS1293471 (human)1e-08low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)12100513882100513883Human
597322708GWAS1418782_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1418782 (human)4e-11non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)12100546481100546482Human
597339466GWAS1435540_Htotal cholesterol measurement QTL GWAS1435540 (human)2e-12total cholesterol measurementblood total cholesterol level (CMO:0000051)12100489720100489721Human
597189448GWAS1285522_Hfree androgen index QTL GWAS1285522 (human)1e-20free androgen index12100532530100532531Human
597258763GWAS1354837_Htotal cholesterol measurement QTL GWAS1354837 (human)2e-08total cholesterol measurementblood total cholesterol level (CMO:0000051)12100489720100489721Human
597493583GWAS1589657_Htotal cholesterol measurement QTL GWAS1589657 (human)5e-19total cholesterol measurementblood total cholesterol level (CMO:0000051)12100499858100499859Human
597142532GWAS1238606_Htotal cholesterol measurement QTL GWAS1238606 (human)3e-12total cholesterol measurementblood total cholesterol level (CMO:0000051)12100501372100501374Human
1643264BW195_HBody weight QTL 195 (human)0.0151Body weightBMI1289897665115897665Human
597096328GWAS1192402_Hsex hormone-binding globulin measurement QTL GWAS1192402 (human)4e-72sex hormone-binding globulin measurement12100532530100532531Human
1357387BW58_HBody weight QTL 58 (human)2.30.0001Body weightfat free mass after exercise training1289438856115438856Human
597487235GWAS1583309_Hlow density lipoprotein cholesterol measurement QTL GWAS1583309 (human)3e-08low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)12100499858100499859Human
597227320GWAS1323394_Hserum gamma-glutamyl transferase measurement QTL GWAS1323394 (human)3e-09serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)12100511778100511779Human
597243705GWAS1339779_Hsex hormone-binding globulin measurement QTL GWAS1339779 (human)2e-62sex hormone-binding globulin measurement12100532530100532531Human
597242680GWAS1338754_Hclinical treatment QTL GWAS1338754 (human)5e-09clinical treatment12100479980100479981Human
597099126GWAS1195200_Hsex hormone-binding globulin measurement QTL GWAS1195200 (human)4e-67sex hormone-binding globulin measurement12100532530100532531Human
1643258BW205_HBody weight QTL 205 (human)4.080.00001Body fat amountpercent body fat1296630114122630114Human
597241402GWAS1337476_HC-reactive protein measurement QTL GWAS1337476 (human)3e-09C-reactive protein measurementblood C-reactive protein level (CMO:0003160)12100532306100532307Human
597098101GWAS1194175_Hsex hormone-binding globulin measurement QTL GWAS1194175 (human)3e-112sex hormone-binding globulin measurement12100532530100532531Human
597189819GWAS1285893_Htestosterone measurement QTL GWAS1285893 (human)2e-26testosterone measurementserum testosterone level (CMO:0000568)12100532530100532531Human
597097395GWAS1193469_Htestosterone measurement QTL GWAS1193469 (human)3e-15testosterone measurementserum testosterone level (CMO:0000568)12100532530100532531Human
597106290GWAS1202364_Hsex hormone-binding globulin measurement QTL GWAS1202364 (human)1e-72sex hormone-binding globulin measurement12100532530100532531Human
597106992GWAS1203066_Htestosterone measurement QTL GWAS1203066 (human)8e-09testosterone measurementserum testosterone level (CMO:0000568)12100532530100532531Human
597341232GWAS1437306_Hserum gamma-glutamyl transferase measurement QTL GWAS1437306 (human)6e-13serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)12100511778100511779Human
597167924GWAS1263998_Halkaline phosphatase measurement QTL GWAS1263998 (human)2e-08alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)12100504439100504440Human
597252852GWAS1348926_Hserum gamma-glutamyl transferase measurement QTL GWAS1348926 (human)5e-12serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)12100511778100511779Human
597097017GWAS1193091_Htestosterone measurement QTL GWAS1193091 (human)1e-30testosterone measurementserum testosterone level (CMO:0000568)12100532530100532531Human
597096697GWAS1192771_Hsex hormone-binding globulin measurement QTL GWAS1192771 (human)2e-138sex hormone-binding globulin measurement12100532530100532531Human
597243176GWAS1339250_Htestosterone measurement QTL GWAS1339250 (human)2e-14testosterone measurementserum testosterone level (CMO:0000568)12100532530100532531Human
597262890GWAS1358964_Hlow density lipoprotein cholesterol measurement QTL GWAS1358964 (human)4e-08low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)12100496540100496541Human
597198507GWAS1294581_Htotal cholesterol measurement QTL GWAS1294581 (human)8e-10total cholesterol measurementblood total cholesterol level (CMO:0000051)12100513882100513883Human
597191083GWAS1287157_Hsex hormone-binding globulin measurement QTL GWAS1287157 (human)1e-54sex hormone-binding globulin measurement12100532530100532531Human
597143727GWAS1239801_Hlow density lipoprotein cholesterol measurement QTL GWAS1239801 (human)7e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)12100501372100501374Human
597194979GWAS1291053_Hfree androgen index QTL GWAS1291053 (human)4e-15free androgen index12100532530100532531Human
597342311GWAS1438385_Hhigh density lipoprotein cholesterol measurement QTL GWAS1438385 (human)3e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)12100489720100489721Human
1358827MULTSCL22_HMultiple sclerosis susceptibility QTL 22 (human)Multiple sclerosis susceptibility1289897665115897665Human
597071849GWAS1167923_Hlow density lipoprotein cholesterol measurement QTL GWAS1167923 (human)5e-08low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)12100548299100548300Human

Markers in Region
D12S332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,947,903 - 100,948,231UniSTSGRCh37
GRCh3712100,947,996 - 100,948,113UniSTSGRCh37
Build 361299,472,127 - 99,472,244RGDNCBI36
Celera12100,613,257 - 100,613,589UniSTS
Celera12100,613,350 - 100,613,467RGD
Cytogenetic Map12q23.1UniSTS
HuRef1298,008,770 - 98,008,887UniSTS
HuRef1298,008,677 - 98,009,009UniSTS
Marshfield Genetic Map12105.18UniSTS
Marshfield Genetic Map12105.18RGD
Genethon Genetic Map12106.6UniSTS
deCODE Assembly Map12111.99UniSTS
Stanford-G3 RH Map124181.0UniSTS
Whitehead-YAC Contig Map12 UniSTS
GeneMap99-G3 RH Map124127.0UniSTS
RH79063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,905,173 - 100,905,383UniSTSGRCh37
Build 361299,429,304 - 99,429,514RGDNCBI36
Celera12100,570,486 - 100,570,696RGD
Cytogenetic Map12q23.1UniSTS
HuRef1297,965,957 - 97,966,167UniSTS
GeneMap99-GB4 RH Map12398.52UniSTS
SHGC-81175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,914,964 - 100,915,241UniSTSGRCh37
Build 361299,439,095 - 99,439,372RGDNCBI36
Celera12100,580,277 - 100,580,554RGD
Cytogenetic Map12q23.1UniSTS
HuRef1297,975,751 - 97,976,028UniSTS
TNG Radiation Hybrid Map1249891.0UniSTS
G64580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,931,184 - 100,931,355UniSTSGRCh37
Build 361299,455,315 - 99,455,486RGDNCBI36
Celera12100,596,498 - 100,596,669RGD
Cytogenetic Map12q23.1UniSTS
G64833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,931,021 - 100,931,202UniSTSGRCh37
Build 361299,455,152 - 99,455,333RGDNCBI36
Celera12100,596,335 - 100,596,516RGD
Cytogenetic Map12q23.1UniSTS
HuRef1297,991,809 - 97,991,990UniSTS
PMC137182P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,950,305 - 100,950,469UniSTSGRCh37
Build 361299,474,436 - 99,474,600RGDNCBI36
Celera12100,615,663 - 100,615,827RGD
Cytogenetic Map12q23.1UniSTS
HuRef1298,011,083 - 98,011,247UniSTS
PMC219489P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,945,039 - 100,945,472UniSTSGRCh37
Build 361299,469,170 - 99,469,603RGDNCBI36
Celera12100,610,393 - 100,610,826RGD
Cytogenetic Map12q23.1UniSTS
HuRef1298,005,814 - 98,006,247UniSTS
PMC219489P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,944,917 - 100,945,472UniSTSGRCh37
Build 361299,469,048 - 99,469,603RGDNCBI36
Celera12100,610,271 - 100,610,826RGD
Cytogenetic Map12q23.1UniSTS
HuRef1298,005,692 - 98,006,247UniSTS
PMC219489P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,944,917 - 100,945,597UniSTSGRCh37
Build 361299,469,048 - 99,469,728RGDNCBI36
Celera12100,610,271 - 100,610,951RGD
Cytogenetic Map12q23.1UniSTS
HuRef1298,005,692 - 98,006,372UniSTS
NR1I2_2318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,957,040 - 100,957,743UniSTSGRCh37
Build 361299,481,171 - 99,481,874RGDNCBI36
Celera12100,622,392 - 100,623,095RGD
HuRef1298,017,805 - 98,018,508UniSTS
SGC33913  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,957,395 - 100,957,520UniSTSGRCh37
Build 361299,481,526 - 99,481,651RGDNCBI36
Celera12100,622,747 - 100,622,872RGD
Cytogenetic Map12q23.1UniSTS
HuRef1298,018,160 - 98,018,285UniSTS
GeneMap99-GB4 RH Map12397.91UniSTS
Whitehead-RH Map12488.1UniSTS
AFM326tf5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,937,210 - 100,937,428UniSTSGRCh37
Build 361299,461,341 - 99,461,559RGDNCBI36
Celera12100,602,524 - 100,602,742RGD
Cytogenetic Map12q23.1UniSTS
HuRef1297,997,892 - 97,998,110UniSTS
Whitehead-RH Map12492.2UniSTS
NCBI RH Map12689.3UniSTS
D12S871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,903,467 - 100,903,766UniSTSGRCh37
Build 361299,427,598 - 99,427,897RGDNCBI36
Celera12100,568,780 - 100,569,079RGD
Cytogenetic Map12q23.1UniSTS
HuRef1297,964,251 - 97,964,550UniSTS
Whitehead-RH Map12492.2UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12689.3UniSTS
RH15652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712100,957,321 - 100,957,433UniSTSGRCh37
Build 361299,481,452 - 99,481,564RGDNCBI36
Celera12100,622,673 - 100,622,785RGD
Cytogenetic Map12q23.1UniSTS
HuRef1298,018,086 - 98,018,198UniSTS
GeneMap99-GB4 RH Map12396.38UniSTS
NCBI RH Map12689.3UniSTS
D12S332  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q23.1UniSTS
Stanford-G3 RH Map124181.0UniSTS
GeneMap99-G3 RH Map124127.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
408 1897 1025 1098 2747 1283 1517 1 528 912 458 688 4227 3150 22 2503 704 1384 819 73

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB307699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF384555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF478445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF478446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY245533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX571749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA011411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA016827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ709175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U68233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000188403   ⟹   ENSP00000188403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,503,360 - 100,563,642 (+)Ensembl
Ensembl Acc Id: ENST00000321046   ⟹   ENSP00000315442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,473,916 - 100,563,511 (+)Ensembl
Ensembl Acc Id: ENST00000392986   ⟹   ENSP00000376712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,473,866 - 100,564,414 (+)Ensembl
Ensembl Acc Id: ENST00000546380   ⟹   ENSP00000446760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,473,955 - 100,505,766 (+)Ensembl
Ensembl Acc Id: ENST00000548621   ⟹   ENSP00000446584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,474,002 - 100,505,796 (+)Ensembl
Ensembl Acc Id: ENST00000548884   ⟹   ENSP00000448506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,473,708 - 100,564,413 (+)Ensembl
Ensembl Acc Id: ENST00000549996   ⟹   ENSP00000448978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,473,916 - 100,563,511 (+)Ensembl
Ensembl Acc Id: ENST00000551184   ⟹   ENSP00000446861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,503,453 - 100,505,824 (+)Ensembl
Ensembl Acc Id: ENST00000551379   ⟹   ENSP00000447149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,503,360 - 100,563,489 (+)Ensembl
Ensembl Acc Id: ENST00000648861   ⟹   ENSP00000496908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,473,951 - 100,563,867 (+)Ensembl
Ensembl Acc Id: ENST00000649582   ⟹   ENSP00000496824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12100,473,893 - 100,505,782 (+)Ensembl
RefSeq Acc Id: NM_001206977   ⟹   NP_001193906
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,473,866 - 100,564,414 (+)NCBI
GRCh3712100,867,486 - 100,957,645 (+)NCBI
HuRef1297,928,334 - 98,018,410 (+)ENTREZGENE
CHM1_112100,833,597 - 100,923,679 (+)NCBI
T2T-CHM13v2.012100,435,311 - 100,525,835 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206978   ⟹   NP_001193907
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,473,866 - 100,564,414 (+)NCBI
GRCh3712100,867,486 - 100,957,645 (+)NCBI
HuRef1297,928,334 - 98,018,410 (+)ENTREZGENE
CHM1_112100,833,597 - 100,923,679 (+)NCBI
T2T-CHM13v2.012100,435,311 - 100,525,835 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206979   ⟹   NP_001193908
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,473,866 - 100,564,414 (+)NCBI
GRCh3712100,867,486 - 100,957,645 (+)NCBI
HuRef1297,928,334 - 98,018,410 (+)ENTREZGENE
CHM1_112100,833,597 - 100,923,679 (+)NCBI
T2T-CHM13v2.012100,435,311 - 100,525,835 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206992   ⟹   NP_001193921
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,503,360 - 100,564,414 (+)NCBI
GRCh3712100,867,486 - 100,957,645 (+)NCBI
HuRef1297,928,334 - 98,018,410 (+)ENTREZGENE
CHM1_112100,863,188 - 100,923,679 (+)NCBI
T2T-CHM13v2.012100,464,809 - 100,525,835 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206993   ⟹   NP_001193922
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,503,360 - 100,564,414 (+)NCBI
GRCh3712100,867,486 - 100,957,645 (+)NCBI
HuRef1297,928,334 - 98,018,410 (+)ENTREZGENE
CHM1_112100,863,188 - 100,923,679 (+)NCBI
T2T-CHM13v2.012100,464,809 - 100,525,835 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005123   ⟹   NP_005114
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,473,866 - 100,564,414 (+)NCBI
GRCh3712100,867,486 - 100,957,645 (+)NCBI
Build 361299,391,810 - 99,481,774 (+)NCBI Archive
HuRef1297,928,334 - 98,018,410 (+)ENTREZGENE
CHM1_112100,833,597 - 100,923,679 (+)NCBI
T2T-CHM13v2.012100,435,311 - 100,525,835 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135146
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,473,866 - 100,564,414 (+)NCBI
CHM1_112100,833,597 - 100,923,679 (+)NCBI
T2T-CHM13v2.012100,435,311 - 100,525,835 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719719   ⟹   XP_006719782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,503,360 - 100,537,040 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539040   ⟹   XP_011537342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,491,045 - 100,564,414 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539041   ⟹   XP_011537343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,503,360 - 100,564,414 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047429943   ⟹   XP_047285899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,473,866 - 100,564,414 (+)NCBI
RefSeq Acc Id: XM_047429944   ⟹   XP_047285900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,473,866 - 100,537,040 (+)NCBI
RefSeq Acc Id: XM_054373953   ⟹   XP_054229928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012100,452,491 - 100,525,835 (+)NCBI
RefSeq Acc Id: XM_054373954   ⟹   XP_054229929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012100,435,311 - 100,525,835 (+)NCBI
RefSeq Acc Id: XM_054373955   ⟹   XP_054229930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012100,464,809 - 100,525,835 (+)NCBI
RefSeq Acc Id: XM_054373956   ⟹   XP_054229931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012100,464,809 - 100,498,469 (+)NCBI
RefSeq Acc Id: XM_054373957   ⟹   XP_054229932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012100,435,311 - 100,498,469 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001193906 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193907 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193908 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193921 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193922 (Get FASTA)   NCBI Sequence Viewer  
  NP_005114 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719782 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537342 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537343 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285899 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285900 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229928 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229929 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229930 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229931 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229932 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB08107 (Get FASTA)   NCBI Sequence Viewer  
  AAH71778 (Get FASTA)   NCBI Sequence Viewer  
  AAI30574 (Get FASTA)   NCBI Sequence Viewer  
  AAI44185 (Get FASTA)   NCBI Sequence Viewer  
  AAK60271 (Get FASTA)   NCBI Sequence Viewer  
  AAM53550 (Get FASTA)   NCBI Sequence Viewer  
  AAM53551 (Get FASTA)   NCBI Sequence Viewer  
  ADZ17382 (Get FASTA)   NCBI Sequence Viewer  
  BAG35798 (Get FASTA)   NCBI Sequence Viewer  
  BAH02290 (Get FASTA)   NCBI Sequence Viewer  
  BAH12398 (Get FASTA)   NCBI Sequence Viewer  
  BAH12409 (Get FASTA)   NCBI Sequence Viewer  
  CAE11874 (Get FASTA)   NCBI Sequence Viewer  
  EAW97638 (Get FASTA)   NCBI Sequence Viewer  
  EAW97639 (Get FASTA)   NCBI Sequence Viewer  
  EAW97640 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000188403
  ENSP00000188403.7
  ENSP00000315442
  ENSP00000315442.5
  ENSP00000376712
  ENSP00000376712.3
  ENSP00000446584.1
  ENSP00000446760.1
  ENSP00000446861.1
  ENSP00000447149
  ENSP00000447149.1
  ENSP00000448506
  ENSP00000448506.1
  ENSP00000448978
  ENSP00000448978.1
  ENSP00000496824.1
  ENSP00000496908
  ENSP00000496908.1
GenBank Protein Q96RI1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001193906   ⟸   NM_001206977
- Peptide Label: isoform 1
- UniProtKB: F1DAL1 (UniProtKB/TrEMBL),   B2R7F1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193908   ⟸   NM_001206979
- Peptide Label: isoform 1
- UniProtKB: F1DAL1 (UniProtKB/TrEMBL),   B2R7F1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005114   ⟸   NM_005123
- Peptide Label: isoform 2
- UniProtKB: B6ZGS9 (UniProtKB/TrEMBL),   B2R7F1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193907   ⟸   NM_001206978
- Peptide Label: isoform 5
- UniProtKB: B2R7F1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193922   ⟸   NM_001206993
- Peptide Label: isoform 3
- UniProtKB: Q8NFP6 (UniProtKB/Swiss-Prot),   Q8NFP5 (UniProtKB/Swiss-Prot),   F8VYG8 (UniProtKB/Swiss-Prot),   B7ZM06 (UniProtKB/Swiss-Prot),   B7Z412 (UniProtKB/Swiss-Prot),   A1L4K5 (UniProtKB/Swiss-Prot),   Q92943 (UniProtKB/Swiss-Prot),   Q96RI1 (UniProtKB/Swiss-Prot),   Q7Z2W0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001193921   ⟸   NM_001206992
- Peptide Label: isoform 4
- UniProtKB: Q7Z2W0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006719782   ⟸   XM_006719719
- Peptide Label: isoform X4
- UniProtKB: G8JLB0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011537342   ⟸   XM_011539040
- Peptide Label: isoform X1
- UniProtKB: F1DAL1 (UniProtKB/TrEMBL),   B2R7F1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011537343   ⟸   XM_011539041
- Peptide Label: isoform X3
- UniProtKB: Q7Z2W0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000496908   ⟸   ENST00000648861
Ensembl Acc Id: ENSP00000188403   ⟸   ENST00000188403
Ensembl Acc Id: ENSP00000496824   ⟸   ENST00000649582
Ensembl Acc Id: ENSP00000446760   ⟸   ENST00000546380
Ensembl Acc Id: ENSP00000315442   ⟸   ENST00000321046
Ensembl Acc Id: ENSP00000448506   ⟸   ENST00000548884
Ensembl Acc Id: ENSP00000446584   ⟸   ENST00000548621
Ensembl Acc Id: ENSP00000448978   ⟸   ENST00000549996
Ensembl Acc Id: ENSP00000376712   ⟸   ENST00000392986
Ensembl Acc Id: ENSP00000446861   ⟸   ENST00000551184
Ensembl Acc Id: ENSP00000447149   ⟸   ENST00000551379
RefSeq Acc Id: XP_047285899   ⟸   XM_047429943
- Peptide Label: isoform X2
- UniProtKB: B6ZGS9 (UniProtKB/TrEMBL),   B2R7F1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047285900   ⟸   XM_047429944
- Peptide Label: isoform X5
- UniProtKB: G8JLB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229929   ⟸   XM_054373954
- Peptide Label: isoform X2
- UniProtKB: B6ZGS9 (UniProtKB/TrEMBL),   B2R7F1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229932   ⟸   XM_054373957
- Peptide Label: isoform X5
- UniProtKB: G8JLB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229928   ⟸   XM_054373953
- Peptide Label: isoform X1
- UniProtKB: F1DAL1 (UniProtKB/TrEMBL),   B2R7F1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229930   ⟸   XM_054373955
- Peptide Label: isoform X3
- UniProtKB: Q7Z2W0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054229931   ⟸   XM_054373956
- Peptide Label: isoform X4
- UniProtKB: G8JLB0 (UniProtKB/TrEMBL)
Protein Domains
NR LBD   Nuclear receptor

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96RI1-F1-model_v2 AlphaFold Q96RI1 1-486 view protein structure

Promoters
RGD ID:7225151
Promoter ID:EPDNEW_H18321
Type:initiation region
Name:NR1H4_1
Description:nuclear receptor subfamily 1 group H member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18322  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,473,866 - 100,473,926EPDNEW
RGD ID:7225153
Promoter ID:EPDNEW_H18322
Type:multiple initiation site
Name:NR1H4_2
Description:nuclear receptor subfamily 1 group H member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18321  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812100,503,360 - 100,503,420EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7967 AgrOrtholog
COSMIC NR1H4 COSMIC
Ensembl Genes ENSG00000012504 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000188403 ENTREZGENE
  ENST00000188403.7 UniProtKB/Swiss-Prot
  ENST00000321046 ENTREZGENE
  ENST00000321046.9 UniProtKB/TrEMBL
  ENST00000392986 ENTREZGENE
  ENST00000392986.8 UniProtKB/Swiss-Prot
  ENST00000546380.1 UniProtKB/TrEMBL
  ENST00000548621.2 UniProtKB/TrEMBL
  ENST00000548884 ENTREZGENE
  ENST00000548884.5 UniProtKB/Swiss-Prot
  ENST00000549996 ENTREZGENE
  ENST00000549996.5 UniProtKB/Swiss-Prot
  ENST00000551184.1 UniProtKB/TrEMBL
  ENST00000551379 ENTREZGENE
  ENST00000551379.5 UniProtKB/Swiss-Prot
  ENST00000648861 ENTREZGENE
  ENST00000648861.1 UniProtKB/Swiss-Prot
  ENST00000649582.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.565.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.50.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000012504 GTEx
HGNC ID HGNC:7967 ENTREZGENE
Human Proteome Map NR1H4 Human Proteome Map
InterPro NHR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NR_LBD_NR1H4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucl_hrmn_rcpt_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuclear_hormone_rcpt_NR1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuclear_hrmn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ThyrH_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_hrmn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_NHR/GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9971 UniProtKB/Swiss-Prot
NCBI Gene 9971 ENTREZGENE
OMIM 603826 OMIM
PANTHER BILE ACID RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR HORMONE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hormone_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31752 PharmGKB
PRINTS STRDHORMONER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STROIDFINGER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THYROIDHORMR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NR_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR_REC_DBD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR_REC_DBD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOLI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Glucocorticoid receptor-like (DNA-binding domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48508 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1L4K5 ENTREZGENE
  B2R7F1 ENTREZGENE, UniProtKB/TrEMBL
  B6ZGS9 ENTREZGENE, UniProtKB/TrEMBL
  B7Z412 ENTREZGENE
  B7ZM06 ENTREZGENE
  F1DAL1 ENTREZGENE, UniProtKB/TrEMBL
  F8VYG8 ENTREZGENE
  F8W1M1_HUMAN UniProtKB/TrEMBL
  F8W656_HUMAN UniProtKB/TrEMBL
  G8JLB0 ENTREZGENE, UniProtKB/TrEMBL
  H0YHD5_HUMAN UniProtKB/TrEMBL
  NR1H4_HUMAN UniProtKB/Swiss-Prot
  Q6IPQ7_HUMAN UniProtKB/TrEMBL
  Q7Z2W0 ENTREZGENE, UniProtKB/TrEMBL
  Q8NFP5 ENTREZGENE
  Q8NFP6 ENTREZGENE
  Q92943 ENTREZGENE
  Q96RI1 ENTREZGENE
UniProt Secondary A1L4K5 UniProtKB/Swiss-Prot
  B7Z412 UniProtKB/Swiss-Prot
  B7ZM06 UniProtKB/Swiss-Prot
  F8VYG8 UniProtKB/Swiss-Prot
  Q8NFP5 UniProtKB/Swiss-Prot
  Q8NFP6 UniProtKB/Swiss-Prot
  Q92943 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NR1H4  nuclear receptor subfamily 1 group H member 4  NR1H4  nuclear receptor subfamily 1, group H, member 4  Symbol and/or name change 5135510 APPROVED