Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NR1H2 (nuclear receptor subfamily 1 group H member 2)

Identity

Alias_namesUNR
ubiquitously-expressed nuclear receptor
nuclear receptor subfamily 1, group H, member 2
Alias_symbol (synonym)NER
NER-I
RIP15
LXR-b
Other aliasLXRB
HGNC (Hugo) NR1H2
LocusID (NCBI) 7376
Atlas_Id 41570
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 50376423 and ends at 50383028 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HHIPL2 (1q41) / NR1H2 (19q13.33)MRPS26 (20p13) / NR1H2 (19q13.33)NR1H2 (19q13.33) / NR1H2 (19q13.33)
NR1H2 (19q13.33) / SMARCD1 (12q13.12)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NR1H2   7965
Cards
Entrez_Gene (NCBI)NR1H2  7376  nuclear receptor subfamily 1 group H member 2
AliasesLXR-b; LXRB; NER; NER-I; 
RIP15; UNR
GeneCards (Weizmann)NR1H2
Ensembl hg19 (Hinxton)ENSG00000131408 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131408 [Gene_View]  chr19:50376423-50383028 [Contig_View]  NR1H2 [Vega]
ICGC DataPortalENSG00000131408
TCGA cBioPortalNR1H2
AceView (NCBI)NR1H2
Genatlas (Paris)NR1H2
WikiGenes7376
SOURCE (Princeton)NR1H2
Genetics Home Reference (NIH)NR1H2
Genomic and cartography
GoldenPath hg38 (UCSC)NR1H2  -     chr19:50376423-50383028 +  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NR1H2  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblNR1H2 - 19q13.33 [CytoView hg19]  NR1H2 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBINR1H2 [Mapview hg19]  NR1H2 [Mapview hg38]
OMIM600380   
Gene and transcription
Genbank (Entrez)AB307697 AI252503 AK091535 AK290855 AK297978
RefSeq transcript (Entrez)NM_001256647 NM_007121
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NR1H2
Cluster EST : UnigeneHs.432976 [ NCBI ]
CGAP (NCI)Hs.432976
Alternative Splicing GalleryENSG00000131408
Gene ExpressionNR1H2 [ NCBI-GEO ]   NR1H2 [ EBI - ARRAY_EXPRESS ]   NR1H2 [ SEEK ]   NR1H2 [ MEM ]
Gene Expression Viewer (FireBrowse)NR1H2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7376
GTEX Portal (Tissue expression)NR1H2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55055   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55055  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55055
Splice isoforms : SwissVarP55055
PhosPhoSitePlusP55055
Domaine pattern : Prosite (Expaxy)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domains : Interpro (EBI)Liver_X_rcpt    Nucl_hrmn_rcpt_lig-bd    Nuclear_hrmn_rcpt    Znf_hrmn_rcpt    Znf_NHR/GATA   
Domain families : Pfam (Sanger)Hormone_recep (PF00104)    zf-C4 (PF00105)   
Domain families : Pfam (NCBI)pfam00104    pfam00105   
Domain families : Smart (EMBL)HOLI (SM00430)  ZnF_C4 (SM00399)  
Conserved Domain (NCBI)NR1H2
DMDM Disease mutations7376
Blocks (Seattle)NR1H2
PDB (SRS)1P8D    1PQ6    1PQ9    1PQC    1UPV    1UPW    3KFC    3L0E    4DK7    4DK8    4NQA    4RAK    5HJP    5I4V    5JY3    5KYA    5KYJ   
PDB (PDBSum)1P8D    1PQ6    1PQ9    1PQC    1UPV    1UPW    3KFC    3L0E    4DK7    4DK8    4NQA    4RAK    5HJP    5I4V    5JY3    5KYA    5KYJ   
PDB (IMB)1P8D    1PQ6    1PQ9    1PQC    1UPV    1UPW    3KFC    3L0E    4DK7    4DK8    4NQA    4RAK    5HJP    5I4V    5JY3    5KYA    5KYJ   
PDB (RSDB)1P8D    1PQ6    1PQ9    1PQC    1UPV    1UPW    3KFC    3L0E    4DK7    4DK8    4NQA    4RAK    5HJP    5I4V    5JY3    5KYA    5KYJ   
Structural Biology KnowledgeBase1P8D    1PQ6    1PQ9    1PQC    1UPV    1UPW    3KFC    3L0E    4DK7    4DK8    4NQA    4RAK    5HJP    5I4V    5JY3    5KYA    5KYJ   
SCOP (Structural Classification of Proteins)1P8D    1PQ6    1PQ9    1PQC    1UPV    1UPW    3KFC    3L0E    4DK7    4DK8    4NQA    4RAK    5HJP    5I4V    5JY3    5KYA    5KYJ   
CATH (Classification of proteins structures)1P8D    1PQ6    1PQ9    1PQC    1UPV    1UPW    3KFC    3L0E    4DK7    4DK8    4NQA    4RAK    5HJP    5I4V    5JY3    5KYA    5KYJ   
SuperfamilyP55055
Human Protein AtlasENSG00000131408
Peptide AtlasP55055
HPRD02660
IPIIPI00022730   IPI01013970   IPI00470864   IPI00967158   
Protein Interaction databases
DIP (DOE-UCLA)P55055
IntAct (EBI)P55055
FunCoupENSG00000131408
BioGRIDNR1H2
STRING (EMBL)NR1H2
ZODIACNR1H2
Ontologies - Pathways
QuickGOP55055
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor activity, sequence-specific transcription regulatory region DNA binding  DNA binding  steroid hormone receptor activity  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  transcription initiation from RNA polymerase II promoter  zinc ion binding  negative regulation of macrophage derived foam cell differentiation  positive regulation of triglyceride biosynthetic process  positive regulation of cholesterol efflux  positive regulation of lipid storage  negative regulation of cholesterol storage  positive regulation of cellular protein metabolic process  negative regulation of lipid transport  positive regulation of cholesterol transport  apolipoprotein A-I receptor binding  cholesterol homeostasis  steroid hormone mediated signaling pathway  cellular lipid metabolic process  positive regulation of fatty acid biosynthetic process  negative regulation of proteolysis  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  retinoid X receptor binding  retinoic acid receptor signaling pathway  negative regulation of pinocytosis  positive regulation of lipoprotein lipase activity  ATPase binding  negative regulation of interferon-gamma-mediated signaling pathway  positive regulation of high-density lipoprotein particle assembly  positive regulation of pancreatic juice secretion  positive regulation of secretion of lysosomal enzymes  regulation of cholesterol homeostasis  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription factor activity, sequence-specific transcription regulatory region DNA binding  DNA binding  steroid hormone receptor activity  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  cytoplasm  transcription initiation from RNA polymerase II promoter  zinc ion binding  negative regulation of macrophage derived foam cell differentiation  positive regulation of triglyceride biosynthetic process  positive regulation of cholesterol efflux  positive regulation of lipid storage  negative regulation of cholesterol storage  positive regulation of cellular protein metabolic process  negative regulation of lipid transport  positive regulation of cholesterol transport  apolipoprotein A-I receptor binding  cholesterol homeostasis  steroid hormone mediated signaling pathway  cellular lipid metabolic process  positive regulation of fatty acid biosynthetic process  negative regulation of proteolysis  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  retinoid X receptor binding  retinoic acid receptor signaling pathway  negative regulation of pinocytosis  positive regulation of lipoprotein lipase activity  ATPase binding  negative regulation of interferon-gamma-mediated signaling pathway  positive regulation of high-density lipoprotein particle assembly  positive regulation of pancreatic juice secretion  positive regulation of secretion of lysosomal enzymes  regulation of cholesterol homeostasis  
NDEx NetworkNR1H2
Atlas of Cancer Signalling NetworkNR1H2
Wikipedia pathwaysNR1H2
Orthology - Evolution
OrthoDB7376
GeneTree (enSembl)ENSG00000131408
Phylogenetic Trees/Animal Genes : TreeFamNR1H2
HOVERGENP55055
HOGENOMP55055
Homologs : HomoloGeneNR1H2
Homology/Alignments : Family Browser (UCSC)NR1H2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNR1H2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NR1H2
dbVarNR1H2
ClinVarNR1H2
1000_GenomesNR1H2 
Exome Variant ServerNR1H2
ExAC (Exome Aggregation Consortium)NR1H2 (select the gene name)
Genetic variants : HAPMAP7376
Genomic Variants (DGV)NR1H2 [DGVbeta]
DECIPHERNR1H2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNR1H2 
Mutations
ICGC Data PortalNR1H2 
TCGA Data PortalNR1H2 
Broad Tumor PortalNR1H2
OASIS PortalNR1H2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNR1H2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNR1H2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NR1H2
DgiDB (Drug Gene Interaction Database)NR1H2
DoCM (Curated mutations)NR1H2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NR1H2 (select a term)
intoGenNR1H2
Cancer3DNR1H2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600380   
Orphanet
MedgenNR1H2
Genetic Testing Registry NR1H2
NextProtP55055 [Medical]
TSGene7376
GENETestsNR1H2
Target ValidationNR1H2
Huge Navigator NR1H2 [HugePedia]
snp3D : Map Gene to Disease7376
BioCentury BCIQNR1H2
ClinGenNR1H2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7376
Chemical/Pharm GKB GenePA31750
Clinical trialNR1H2
Miscellaneous
canSAR (ICR)NR1H2 (select the gene name)
Probes
Litterature
PubMed141 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNR1H2
EVEXNR1H2
GoPubMedNR1H2
iHOPNR1H2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:22:38 CEST 2017

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