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

    Gene ID: 6096, updated on 2-Nov-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
    mouse all
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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 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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    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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    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
    		not available

    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)

    Genotypes

    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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