NR1H2 - nuclear receptor subfamily 1 group H member 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7376

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

zf-C4: Zinc finger, C4 type (two domains) (86 - 155)

Hormone_recep

Hormone_recep: Ligand-binding domain of nuclear hormone receptor (256 - 440)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NR1H2 P55055 CORO2A Homo sapiens Q92828
Y2H
21331046
Intra
NR1H2 P55055 CORO2A Homo sapiens Q92828 21331046
Intra
NR1H2 P55055 NCOR1 Homo sapiens O75376 26120082
Intra
NR1H2 P55055 RXRG Homo sapiens P48443 31515488
Intra
NR1H2 P55055 RXRG Homo sapiens P48443
Y2H
21900206
Intra
NR1H2 P55055 MDFI Homo sapiens Q99750 19060904
Intra
NR1H2 P55055 MDFI Homo sapiens Q99750 19060904
Cross: Cross-species interaction Intra: Intraspecies interaction

NR1H2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P84400 NR1H2 Antibody (YA4097) ICC/IF, FC, ELISA Human
HY-P84400A NR1H2 Antibody (YA4097)(PBS only) ICC/IF, FC, ELISA Human

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

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
Others NR1H2 NCBI