NR1H2 - nuclear receptor subfamily 1 group H member 2 Gene

Homo sapiens

Also known as NER; UNR; LXRB; LXR-b; NER-I; RIP15

Gene ID: 7376 | Gene type: protein coding

About NR1H2

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,376,457-50,383,388 (from NCBI)

This gene has 14 transcripts (splice variants), 304 orthologues and 18 paralogues. Ubiquitous expression in bone marrow (RPKM 38.7), spleen (RPKM 21.5) and 25 other tissues.

Summary

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 Products(2)

mRNA	Protein	Name
NM_001256647.3	NP_001243576.2	oxysterols receptor LXR-beta isoform 2
NM_007121.7	NP_009052.4	oxysterols receptor LXR-beta isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	23931754	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	9013544	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	9013544	GOA
enables apolipoprotein A-I receptor binding	IPI IPI: Inferred from physical interaction	23931754	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12393874	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12393874	GOA
involved in negative regulation of cholesterol storage	IMP IMP: Inferred from mutant phenotype	17693624	GOA
involved in negative regulation of lipid transport	IMP IMP: Inferred from mutant phenotype	17693624	GOA
involved in negative regulation of pinocytosis	IMP IMP: Inferred from mutant phenotype	17693624	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	25661920	GOA
involved in positive regulation of cholesterol efflux	IMP IMP: Inferred from mutant phenotype	17186944	GOA
involved in positive regulation of cholesterol transport	IDA IDA: Inferred from direct assay	16141411	GOA
involved in positive regulation of fatty acid biosynthetic process	IMP IMP: Inferred from mutant phenotype	17186944	GOA
involved in positive regulation of lipoprotein lipase activity	IMP IMP: Inferred from mutant phenotype	17186944	GOA
involved in positive regulation of protein metabolic process	IMP IMP: Inferred from mutant phenotype	17186944	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9013544	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	17186944	GOA
involved in positive regulation of triglyceride biosynthetic process	IMP IMP: Inferred from mutant phenotype	17186944	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of RNA polymerase II transcription regulator complex	IPI IPI: Inferred from physical interaction	27011007	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12393874	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12393874	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NR1H2 Protein Structure

zf-C4

Hormone_recep

0
100
200
300
400
460 a.a.

Protein Preferred Names

Protein Names

oxysterols receptor LXR-beta

LX receptor beta

NR1H2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	NR1H2	P55055	CORO2A	Homo sapiens	Q92828	Y2H	21331046
Intra	NR1H2	P55055	CORO2A	Homo sapiens	Q92828	Pull Down	21331046
Intra	NR1H2	P55055	NCOR1	Homo sapiens	O75376	FRET	26120082
Intra	NR1H2	P55055	RXRG	Homo sapiens	P48443	Y2H Array	31515488
Intra	NR1H2	P55055	RXRG	Homo sapiens	P48443	Y2H	21900206
Intra	NR1H2	P55055	MDFI	Homo sapiens	Q99750	Y2H Pooling	19060904
Intra	NR1H2	P55055	MDFI	Homo sapiens	Q99750	Y2H Array	19060904

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Complete Androgen Insensitivity Syndrome

Cais	Complete Androgen Resistance Syndrome
Androgen Insensitivity Syndrome Complete	Androgen Insensitivity, Complete
Androgen-Insensitivity Syndrome	Testicular Feminization

Cerebrotendinous Xanthomatosis

CTX	Cerebral Cholesterinosis
Cholestanol Storage Disease	Xanthomatosis, Cerebrotendinous
Sterol 27-Hydroxylase Deficiency	Xanthomatosis Cerebrotendinous
Cerebrotendinous Cholesterinosis	Cholestanolosis
Van Bogaert-Scherer-Epstein Disease

Androgen Insensitivity Syndrome

Androgen Resistance Syndrome	AIS
Testicular Feminization Syndrome	Androgen Receptor Deficiency
Dhtr Deficiency	Dihydrotestosterone Receptor Deficiency
Ar Deficiency	Testicular Feminization
Tfm	Androgen Insensitivity
Androgen-Insensitivity Syndrome	Goldberg-Maxwell Syndrome
Complete Androgen Insensitivity Syndrome	Cais
Feminisation - Testicular	Goldberg - Maxwell Syndrome
Androgen Insensitivity Syndrome, Complete	Morris Syndrome
Ary	AR
Insensitivity Syndrome, Androgen	Androgen Insensitivity Nos

Cholestasis

Obstruction Of Bile Duct	Bile Duct Obstruction
Bile Occlusion	Extrahepatic Biliary Obstruction
Extrahepatic Bile Duct Obstruction	Bile Stasis
Biliary Stasis	Obstructive Hyperbilirubinemia
Obstructed Jaundice	Bile Duct Obstructed
Bile Ductal Obstruction	Biliary Duct Obstruction
Obstructed Bile Ductal	Obstructed Biliary Duct
Obstructed Biliary Ductal	Jaundice Regurgitation
Obstructive Jaundice	Cholestatic Jaundice
Cholestatic Jaundice Syndrome

Thyroid Hormone Resistance, Generalized, Autosomal Dominant

Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance
GRTHD	Gthr
Thyroid Hormone Unresponsiveness	Generalized Thyroid Hormone Resistance
Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Thyroid Hormones	Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones
Refetoff Syndrome	Thyroid Hormone Responsiveness Defect
Familial Euthyroid Hyperthyroxinemia, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones	Thyroid Hormone Resistance, Generalized, Autosomal Recessive

Xanthomatosis

Xanthomatosis, Susceptibility To

Xanthelasmatosis

Type 2 Diabetes Mellitus

Insulin Resistance	NIDDM
Type 2 Diabetes	Diabetes Mellitus, Non-Insulin-Dependent
T2D	Noninsulin-Dependent Diabetes Mellitus
Diabetes Mellitus, Type Ii	Maturity-Onset Diabetes
Insulin Resistance, Severe, Digenic	Diabetes Mellitus, Type 2
Diabetes Mellitus, Noninsulin-Dependent	Diabetes Mellitus, Noninsulin-Dependent, Association With
Diabetes Mellitus, Noninsulin-Dependent, Late Onset	Hypertension, Insulin Resistance-Related, Susceptibility To
Insulin Resistance, Susceptibility To	Non-Insulin-Dependent Diabetes Mellitus
Type Ii Diabetes Mellitus	Adult-Onset Diabetes Mellitus
Maturity-Onset Diabetes Mellitus	Diabetes Mellitus Type 2
Type Ii Diabetes	Type 2 Diabetes Mellitus, Susceptibility To
Diabetes, Type 2	Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To
Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To	Diabetes Mellitus, Type 2, Susceptibility To
Diabetes Mellitus, Noninsulin-Dependent, 2	Diabetes Mellitus, Type Ii, Susceptibility To
Hypertension, Insulin Resistance-Related	Adult-Onset Diabetes
Aodm	Diabetes Mellitus, Adult-Onset
Diabetes Mellitus Type Ii	Diabetes Mellitus Type 2, Susceptibility To
Diabetes, Type Ii, Susceptibility To	Diabetes Type 2
Diabetes Mellitus	Adult Onset Diabetes
Maturity Onset Diabetes	Nonketotic Diabetes
Non-Insulin Dependent Diabetes Mellitus	T2dm - [Type 2 Diabetes Mellitus]
Niddm - [Non Insulin Dependent Diabetes Mellitus]	Dm2
Dm Type Ii	Diabetic Type 2
Insulin Requiring Type 2 Diabetes	Noninsulin Dependent Diabetes
Non-Insulin-Dependent Diabetes Mellitus Without Complications	Diabetes Due To Insulin Secretory Defect
Diabetes Mellitus Due To Insulin Secretory Defect	Non-Insulin-Dependent Diabetes Of The Young
Senile Diabetes	Nonketotic Hyperglycaemia
Stable Diabetes

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic	Acute Myeloblastic Leukemia Type 3
Aml M3	APL
Leukemia, Acute Promyelocytic, Somatic	Aml With T(15
17)(Q22	Q12)
(Pml/Raralpha) And Variants	Apml
Acute Myeloblastic Leukemia 3	Acute Myeloid Leukemia With T(15
17)(Q22	Q12)
(Pml/Raralpha) And Variants	Acute Myeloblastic Leukaemia Type 3
Acute Myeloid Leukaemia M3	Acute Myeloid Leukemia M3
Acute Promyelocytic Leukaemia	M3 Anll
Myeloid Leukemia, Acute, M3	Leukemia Promyelocytic Acute
Leukemia, Promyelocytic, Acute	Leukemia, Acute, Promyelocytic

Lipid Metabolism Disorder

Dyslipidemia	Disorder Of Fatty Acid Metabolism
Lipid Metabolism Disorders	Fatty Acid Metabolism Disorder
Disorder Of Lipid Metabolism	Abnormality Of Lipid Metabolism
Lipid Metabolism, Inborn Errors	Dyslipidemias
Disorders Of Lipid Metabolism	Congenital Disorders Of Lipid Metabolism
Inherited Disorders Of Lipid Metabolism

Vitamin D-Dependent Rickets, Type 2a

Hvdrr	Generalized Resistance To 1,25-Dihydroxyvitamin D
Hypocalcemic Vitamin D-Resistant Rickets	VDDR2A
Rickets, Hereditary Vitamin D-Resistant	Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol
Pddr Iia	Rickets-Alopecia Syndrome
Rickets, Vitamin D-Resistant, Type Iia	Vitamin D-Dependent Rickets Type 2a
Vitamin D-Dependent Rickets, Type 2	Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia
Generalized 1,25-Dihydroxyvitamin D	Pseudovitamin D-Deficiency, Type Iia
Hereditary Vitamin D-Resistant Rickets	Vddr Ii
Vdrr Ii	Vitamin D-Dependent Rickets Type Ii
Vitamin D-Resistant Rickets Type Ii	Rickets Vitamin D-Dependent 2a
Pseudovitamin D-Deficiency Type Iia	Rickets Hereditary Vitamin D-Resistant
Type Iia Rickets	Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia
Vitamin D-Dependent Rickets, Type Ii	Familial Hypophosphatemic Rickets
Hypophosphatemic Rickets, X-Linked Dominant

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Prostate Cancer

Prostate Carcinoma	Prostate Cancer, Familial
Prostate Neoplasm	Prostate Cancer, Somatic
Prostate Cancer, Susceptibility To	Prostatic Cancer
Prostatic Neoplasms	Hereditary Prostate Cancer
Prostatic Neoplasm	Cancer Of Prostate
Carcinoma Of Prostate	Familial Prostate Cancer
Familial Prostate Carcinoma	Malignant Tumor Of Prostate
Malignant Neoplasm Of Prostate	Prostate Cancer, Familial, Susceptibility To
Malignant Tumor Of The Prostate	Ngp - New Growth Of Prostate
Tumor Of The Prostate	Prostate Cancer, Hereditary
Cancer Of The Prostate	Malignant Neoplasm Of The Prostate
Prostatic Carcinoma	PC
Prca	Cancer, Prostate
Malignant Prostatic Tumour	Malignant Tumour Of Prostate
Primary Prostate Cancer	Primary Malignant Neoplasm Of Prostate
Prostate Gland Cancer

Cardiovascular System Disease

Abnormality Of The Cardiovascular System	Cardiovascular Disease
Disease Of Subdivision Of Hemolymphoid System	Disorder Of Cardiovascular System
Cardiovascular Diseases

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09529	NR1H2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NR1H2	VGNC	VGNC:32230
Mus musculus	NR1H2	MGD	MGI:1352463
Canis familiaris	NR1H2	VGNC	VGNC:43942
Felis catus	NR1H2	VGNC	VGNC:68544
Macaca mulatta	NR1H2	VGNC	VGNC:75504
Rattus norvegicus	NR1H2	RGD	RGD:61906

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