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RORB RAR related orphan receptor B [ Homo sapiens (human) ]

Gene ID: 6096, updated on 10-Dec-2024

Summary

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Official Symbol
RORBprovided by HGNC
Official Full Name
RAR related orphan receptor Bprovided by HGNC
Primary source
HGNC:HGNC:10259
See related
Ensembl:ENSG00000198963 MIM:601972; AllianceGenome:HGNC:10259
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RZRB; EIG15; NR1F2; RORbeta; ROR-BETA; RZR-BETA; bA133M9.1
Summary
The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm. [provided by RefSeq, Feb 2014]
Expression
Biased expression in brain (RPKM 5.4), endometrium (RPKM 3.4) and 9 other tissues See more
Orthologs
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Genomic context

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See RORB in Genome Data Viewer
Location:
9q21.13
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (74497335..74693177)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (86650612..86846447)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (77112251..77308093)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376087 Neighboring gene uncharacterized LOC101927358 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:77093507-77093676 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:77111887-77112099 Neighboring gene Sharpr-MPRA regulatory region 6114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:77114153-77114929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:77114988-77115488 Neighboring gene RORB antisense RNA 1 Neighboring gene uncharacterized LOC105376088 Neighboring gene Sharpr-MPRA regulatory region 9792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28467 Neighboring gene transient receptor potential cation channel subfamily M member 6 Neighboring gene RN7SK pseudogene 47 Neighboring gene ribosomal protein SA pseudogene 75

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Comprehensive analysis of the prognosis and biological significance of ROR(β) in head and neck squamous cell carcinoma. Zheng J, et al. Environ Toxicol, 2024 Feb. PMID 37278231
  2. Effect of supplemental zinc on growth and on hair and blood serum levels of beef cattle. Beeson WM, et al. J Anim Sci, 1977 Jul. PMID 885817
  3. Functional analysis of retinoid Z receptor beta, a brain-specific nuclear orphan receptor. Greiner EF, et al. Proc Natl Acad Sci U S A, 1996 Sep 17. PMID 8816759, Free PMC Article
  4. Differential transcription of the orphan receptor RORbeta in nuclear extracts derived from Neuro2A and HeLa cells. Gawlas K, et al. Nucleic Acids Res, 2001 Aug 15. PMID 11504880, Free PMC Article
  5. Rhythmic expression of ROR beta mRNA in the mice suprachiasmatic nucleus. Sumi Y, et al. Neurosci Lett, 2002 Mar 1. PMID 11849752

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Comprehensive analysis of the prognosis and biological significance of RORbeta in head and neck squamous cell carcinoma.
    Title: Comprehensive analysis of the prognosis and biological significance of ROR(β) in head and neck squamous cell carcinoma.
  2. RORB, an Alzheimer's disease susceptibility gene, is associated with viral encephalitis, an Alzheimer's disease risk factor.
    Title: RORB, an Alzheimer's disease susceptibility gene, is associated with viral encephalitis, an Alzheimer's disease risk factor.
  3. RORbeta suppresses the stemness of gastric cancer cells by downregulating the activity of the Wnt signaling pathway.
    Title: RORβ suppresses the stemness of gastric cancer cells by downregulating the activity of the Wnt signaling pathway.
  4. Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.
    Title: Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.
  5. Results show that NRIP2 regulates the activity of the Wnt pathway via RORbeta. RORbeta inhibits tumorigenesis and the self-renewal of cancer initiating cells (CCICs) and targets HBP1 in regulating Wnt pathway to inhibit tumorigenesis and the self-renewal of CCICs.
    Title: Up-regulated NRIP2 in colorectal cancer initiating cells modulates the Wnt pathway by targeting RORβ.
  6. Nonsense variant in RORB was identified in four family members with epilepsy. Two de novo RORB deletions identified in patients with behavioral and cognitive impairment and epilepsy.
    Title: Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
  7. associations between NR1D1, RORA and RORB genes and bipolar disorder.(
    Title: Investigation of associations between NR1D1, RORA and RORB genes and bipolar disorder.
  8. Retinoic acid-related orphan receptor RORbeta, circadian rhythm abnormalities and tumorigenesis
    Title: Retinoic acid-related orphan receptor RORβ, circadian rhythm abnormalities and tumorigenesis (Review).
  9. these data demonstrate that Rorbeta regulates known osteogenic pathways, and may represent a novel therapeutic target for age-associated bone loss.
    Title: Identification of Rorβ targets in cultured osteoblasts and in human bone.
  10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Epilepsy, idiopathic generalized, susceptibility to, 15
MedGen: C5193050 OMIM: 618357 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of RAR-related orphan receptor B (RORB) in primary human brain microvascular endothelial cells PubMed
Vif vif HIV-1 Vif upregulates the expression of RAR-related orphan receptor B (RORB) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables melatonin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nuclear receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in amacrine cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to retinoic acid ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in eye photoreceptor cell development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of circadian rhythm ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retina development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in retinal cone cell development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in retinal rod cell development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in rhythmic process IEA
Inferred from Electronic Annotation
more info
  
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
nuclear receptor ROR-beta
Names
RAR-related orphan receptor beta
nuclear receptor RZR-beta
nuclear receptor subfamily 1 group F member 2
retinoic acid-binding receptor beta
retinoid Z receptor beta
retinoid-related orphan receptor beta

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046926.2 RefSeqGene

    Range
    5000..200842
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001365023.1 → NP_001351952.1  nuclear receptor ROR-beta isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL137018, AL158833, BC051830, BM929808, BX647070, KY037794
    Consensus CDS
    CCDS94422.1
    UniProtKB/Swiss-Prot
    Q8WX73, Q92753
    UniProtKB/TrEMBL
    A0A1L4FMK7, B6ZGS5
    Related
    ENSP00000379507.2, ENST00000396204.2
    Conserved Domains (2) summary
    cd06939
    Location:221 → 461
    NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
    cd06968
    Location:14 → 108
    NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers

  2. NM_006914.4 → NP_008845.2  nuclear receptor ROR-beta isoform 1

    See identical proteins and their annotated locations for NP_008845.2

    Status: REVIEWED

    Source sequence(s)
    AL137018, AL158833, AL355674, AL691650, BC051830, BC093772, BX647070
    Consensus CDS
    CCDS6646.1
    UniProtKB/TrEMBL
    B6ZGS5, Q58EY0
    Related
    ENSP00000366093.2, ENST00000376896.8
    Conserved Domains (2) summary
    cd06939
    Location:210 → 450
    NR_LBD_ROR_like; The ligand binding domain of Retinoid-related orphan receptors, of the nuclear receptor superfamily
    cd06968
    Location:3 → 97
    NR_DBD_ROR; DNA-binding domain of Retinoid-related orphan receptors (RORs) is composed of two C4-type zinc fingers

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    74497335..74693177
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    86650612..86846447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92753.3 GenPept UniProtKB/Swiss-Prot:Q92753

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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