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Gene Gene information from NCBI Gene database.
Entrez ID 7376
Gene name Nuclear receptor subfamily 1 group H member 2
Gene symbol NR1H2
Synonyms (NCBI Gene)
LXR-bLXRBNERNER-IRIP15UNR
Chromosome 19
Chromosome location 19q13.33
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 inducibl
miRNA miRNA information provided by mirtarbase database.
55 Show/Hide all (55)
miRTarBase ID miRNA Experiments Reference
MIRT025788 hsa-miR-7-5p Microarray 17612493
MIRT040136 hsa-miR-615-3p CLASH 23622248
MIRT724633 hsa-miR-1292-3p HITS-CLIP 19536157
MIRT724632 hsa-miR-136-5p HITS-CLIP 19536157
MIRT724633 hsa-miR-1292-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
93 Show/Hide all (93)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 9013544
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600380 7965 ENSG00000131408
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55055
Protein name Oxysterols receptor LXR-beta (Liver X receptor beta) (Nuclear receptor NER) (Nuclear receptor subfamily 1 group H member 2) (Ubiquitously-expressed nuclear receptor)
Protein function Nuclear receptor that exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920). Binds preferentially to double-stranded oligonucleotide direct repeats having the consensus half-site sequence 5'-AGGTCA-3' and 4-nt spacing
PDB 1P8D , 1PQ6 , 1PQ9 , 1PQC , 1UPV , 1UPW , 3KFC , 3L0E , 4DK7 , 4DK8 , 4NQA , 4RAK , 5HJP , 5I4V , 5JY3 , 5KYA , 5KYJ , 6JIO , 6K9G , 6K9H , 6K9M , 6S4N , 6S4T , 6S4U , 6S5K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00104 Hormone_recep 256 → 444 Ligand-binding domain of nuclear hormone receptor Domain
PF00105 zf-C4 85 → 156 Zinc finger, C4 type (two domains) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MSSPTTSSLDTPLPGNGPPQPGAPSSSPTVKEEGPEPWPGGPDPDVPGTDEASSACSTDW
VIPDPEEEPERKRKKGPAPKMLGHELCRVCGDKASGFHYNVLSCEGCKGFFRRSVVRGGA
RRYACRGGGTCQMDAFMRRKCQQCRLRKCKEAGMRE
QCVLSEEQIRKKKIRKQQQESQSQ
SQSPVGPQGSSSSASGPGASPGGSEAGSQGSGEGEGVQLTAAQELMIQQLVAAQLQCNKR
SFSDQPKVTPWPLGADPQSRDARQQRFAHFTELAIISVQEIVDFAKQVPGFLQLGREDQI
ALLKASTIEIMLLETARRYNHETECITFLKDFTYSKDDFHRAGLQVEFINPIFEFSRAMR
RLGLDDAEYALLIAINIFSADRPNVQEPGRVEALQQPYVEALLSYTRIKRPQDQLRFPRM
LMKLVSLRTLSSVHSEQVFALRLQ
DKKLPPLLSEIWDVHE
Sequence length 460
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Efferocytosis PPARA activates gene expression
Insulin resistance Nuclear Receptor transcription pathway
  SUMOylation of intracellular receptors
  VLDLR internalisation and degradation
  NR1H2 & NR1H3 regulate gene expression linked to lipogenesis
  NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
  NR1H2 & NR1H3 regulate gene expression to limit cholesterol uptake
  NR1H2 & NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose
  NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
CARCINOMA, HEPATOCELLULAR — CTD 21147110
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLESTASIS — CTD, Disgenet
CTD, Disgenet
17256725
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY — CTD 28108177
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog 37426090
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (132)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 30376844
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 18478337
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 30376844
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 26263968
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28763470
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 22529354
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 28099631 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 22529354
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 23717417 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Exstrophy Bladder exstrophy Pubtator 37509153 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only