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The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]
NR1H2 (Nuclear Receptor Subfamily 1 Group H Member 2) is a Protein Coding gene. Diseases associated with NR1H2 include Complete Androgen Insensitivity Syndrome and Biliary Tract Disease. Among its related pathways are Nuclear Receptor transcription pathway and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is NR1H3.
Liver X receptors (LXRs) and farnesoid X receptors (FXRs) are members of the steroid analog-activated nuclear receptor subfamily, which form heterodimers with members of the retinoid X receptor family. There are two closely related isoforms of each of these enzymes; alpha and beta.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 9013544 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 9013544 |
GO:0003677 | DNA binding | IEA,TAS | 7926814 |
GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 12393874 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IDA | 12393874 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Lipoprotein metabolism | ||
2 | Gene Expression |
.48
|
|
3 | Metabolism |
.40
|
|
4 | Nuclear Receptor transcription pathway | ||
5 | Glucose / Energy Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Diacerein | Approved, Investigational | Pharma | Target, inhibitor | 0 | ||
Gefitinib | Approved, Investigational | Pharma | EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors | 410 | ||
1,1,1,3,3,3-HEXAFLUORO-2-{4-[(2,2,2-TRIFLUOROETHYL)AMINO]PHENYL}PROPAN-2-OL | Experimental | Pharma | Target | 0 | ||
Benzenesulfinic acid | Experimental | Pharma | Target | 0 | ||
GW-3965 | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
GW 4064 |
|
278779-30-9 |
|
|
Compound | Action | Cas Number |
---|---|---|
27-Hydroxycholesterol | LXR agonist; also ER partial agonist | 20380-11-4 |
GW 4064 | Selective farnesoid X receptor (FXR) agonist | 278779-30-9 |
T 0901317 | Potent liver X receptor (LXR) agonist; also CAR inverse agonist | 293754-55-9 |
Compound | Action | Cas Number |
---|---|---|
Fexaramine | 574013-66-4 | |
GW3965 | HLXRα/hLXRβ agonist,potent and selective | 405911-09-3 |
GW3965 HCl | 405911-17-3 | |
LXR-623 | Liver X-receptor agonist | 875787-07-8 |
SR-9243 | inverse agonist of LXR | 1613028-81-1 |
T0901317 | Liver X receptor agonist,potent and selective | 293754-55-9 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - |
ExUns: | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | |||||||||
SP5: | |||||||||
SP6: | |||||||||
SP7: | |||||||||
SP8: | |||||||||
SP9: | |||||||||
SP10: | |||||||||
SP11: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NR1H2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NR1H2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nr1h2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nr1h2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | NR1H2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | NR1H2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nr1h2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nr1h5 31 |
|
ManyToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012211 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | EcR 30 31 32 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1568595477 | Uncertain Significance: not provided | 50,379,802(+) |
G/A NM_007121.7(NR1H2):c.950G>A (p.Arg317Lys) |
MISSENSE | |
rs41379547 | - |
p.Ser2Phe |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1066389 | CNV | gain | 25217958 |
nsv1071939 | CNV | deletion | 25765185 |
nsv1133010 | OTHER | inversion | 24896259 |
nsv1140251 | OTHER | inversion | 24896259 |
nsv1152956 | OTHER | inversion | 26484159 |
Disorder | Aliases | PubMed IDs |
---|---|---|
complete androgen insensitivity syndrome |
|
|
biliary tract disease |
|
|
cholestasis |
|
|
acute promyelocytic leukemia |
|
|
androgen insensitivity syndrome |
|
|