Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RORB Gene

Aliases for RORB Gene

  • RAR Related Orphan Receptor B 2 3 5
  • Nuclear Receptor Subfamily 1 Group F Member 2 3 4
  • Nuclear Receptor RZR-Beta 3 4
  • NR1F2 3 4
  • RZRB 3 4
  • Retinoid-Related Orphan Receptor Beta 3
  • Retinoid-Related Orphan Receptor-Beta 4
  • Retinoic Acid-Binding Receptor Beta 3
  • RAR-Related Orphan Receptor Beta 3
  • RAR-Related Orphan Receptor B 2
  • Nuclear Receptor ROR-Beta 3
  • BA133M9.1 3
  • ROR-BETA 3
  • RZR-BETA 3

External Ids for RORB Gene

Previous GeneCards Identifiers for RORB Gene

  • GC09P068156
  • GC09P068968
  • GC09P070682
  • GC09P072569
  • GC09P074341
  • GC09P076302
  • GC09P077112
  • GC09P046935

Summaries for RORB Gene

Entrez Gene Summary for RORB Gene

  • 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]

GeneCards Summary for RORB Gene

RORB (RAR Related Orphan Receptor B) is a Protein Coding gene. Among its related pathways are Gene Expression and Circadian rhythm. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is RORA.

UniProtKB/Swiss-Prot for RORB Gene

  • Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5-AGGTCA-3 preceded by a short A-T-rich sequence. Considered to have intrinsic transcriptional activity, have some natural ligands such as all-trans retinoic acid (ATRA) and other retinoids which act as inverse agonists repressing the transcriptional activity. Required for normal postnatal development of rod and cone photoreceptor cells. Modulates rod photoreceptors differentiation at least by inducing the transcription factor NRL-mediated pathway. In cone photoreceptor cells, regulates transcription of OPN1SW. Involved in the regulation of the period length and stability of the circadian rhythm. May control cytoarchitectural patterning of neocortical neurons during development. May act in a dose-dependent manner to regulate barrel formation upon innervation of layer IV neurons by thalamocortical axons. May play a role in the suppression of osteoblastic differentiation through the inhibition of RUNX2 transcriptional activity (By similarity).

  • Isoform 1 is critical for hindlimb motor control and for the differentiation of amacrine and horizontal cells in the retina. Regulates the expression of PTF1A synergistically with FOXN4 (By similarity).

Tocris Summary for RORB Gene

  • Retinoic acid-related Orphan Receptors (RORs) are a family of orphan nuclear receptors that are believed to play a role in numerous physiological processes, including circadian rhythm and bone metabolism. The endogenous ligand for these receptors is not yet known.

Gene Wiki entry for RORB Gene

Additional gene information for RORB Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RORB Gene

Genomics for RORB Gene

GeneHancer (GH) Regulatory Elements for RORB Gene

Promoters and enhancers for RORB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J074496 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 650.7 +0.4 424 2.1 MXI1 PKNOX1 SUZ12 MAX SIN3A BMI1 ZNF335 ZNF366 POLR2A ZNF143 RORB RORB-AS1 GC09M074495 GC09M074466
GH09J074556 Enhancer 0.5 ENCODE 11.4 +59.6 59613 1.1 BCL11A JUNB BATF IRF4 RUNX3 RORB RORB-AS1 GC09M074587 GC09M074466
GH09J074245 Enhancer 0.6 ENCODE dbSUPER 6.7 -251.3 -251300 1.6 NFIC NFIB RORB PIR60276 LOC101927329
GH09J074471 Enhancer 0.2 FANTOM5 12.2 -25.7 -25668 0.2 RORB-AS1 RORB GC09M074495 GC09M074466 LOC101927358
GH09J074280 Enhancer 0.4 dbSUPER 5.2 -214.2 -214191 5.2 CTCF CEBPB RAD21 RORB LOC101927329 LOC105376087
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RORB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RORB gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • CUTL1
  • Egr-3
  • IRF-7A
  • Nkx2-2
  • Cart-1
  • c-Myb
  • HFH-1
  • AREB6

Genomic Locations for RORB Gene

Genomic Locations for RORB Gene
chr9:74,497,336-74,693,177
(GRCh38/hg38)
Size:
195,842 bases
Orientation:
Plus strand
chr9:77,112,252-77,308,093
(GRCh37/hg19)
Size:
195,842 bases
Orientation:
Plus strand

Genomic View for RORB Gene

Genes around RORB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RORB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RORB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RORB Gene

Proteins for RORB Gene

  • Protein details for RORB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92753-RORB_HUMAN
    Recommended name:
    Nuclear receptor ROR-beta
    Protein Accession:
    Q92753
    Secondary Accessions:
    • Q8WX73

    Protein attributes for RORB Gene

    Size:
    470 amino acids
    Molecular mass:
    53220 Da
    Quaternary structure:
    • Monomer. Interacts with CRX (By similarity).

    Alternative splice isoforms for RORB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RORB Gene

Post-translational modifications for RORB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RORB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RORB Gene

Domains & Families for RORB Gene

Gene Families for RORB Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Graphical View of Domain Structure for InterPro Entry

Q92753

UniProtKB/Swiss-Prot:

RORB_HUMAN :
  • AF-2 (activation function-2) motif is required for recruiting coregulators containing the LXXLL motif, such as NCOA1, and control the transactivational activity.
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
Domain:
  • AF-2 (activation function-2) motif is required for recruiting coregulators containing the LXXLL motif, such as NCOA1, and control the transactivational activity.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with RORB: view

Function for RORB Gene

Molecular function for RORB Gene

UniProtKB/Swiss-Prot Function:
Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5-AGGTCA-3 preceded by a short A-T-rich sequence. Considered to have intrinsic transcriptional activity, have some natural ligands such as all-trans retinoic acid (ATRA) and other retinoids which act as inverse agonists repressing the transcriptional activity. Required for normal postnatal development of rod and cone photoreceptor cells. Modulates rod photoreceptors differentiation at least by inducing the transcription factor NRL-mediated pathway. In cone photoreceptor cells, regulates transcription of OPN1SW. Involved in the regulation of the period length and stability of the circadian rhythm. May control cytoarchitectural patterning of neocortical neurons during development. May act in a dose-dependent manner to regulate barrel formation upon innervation of layer IV neurons by thalamocortical axons. May play a role in the suppression of osteoblastic differentiation through the inhibition of RUNX2 transcriptional activity (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 1 is critical for hindlimb motor control and for the differentiation of amacrine and horizontal cells in the retina. Regulates the expression of PTF1A synergistically with FOXN4 (By similarity).
GENATLAS Biochemistry:
RAR related orphan receptor B,expressed in areas of the central nervous system,involved in the processing of sensory information and in the components of mammalian timing system,the suprachiasmatic nuclei,retina and pineal gland,steroid/thyroid retinoic receptor superfamily

Phenotypes From GWAS Catalog for RORB Gene

Gene Ontology (GO) - Molecular Function for RORB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA --
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001076 transcription factor activity, RNA polymerase II transcription factor binding IBA --
genes like me logo Genes that share ontologies with RORB: view
genes like me logo Genes that share phenotypes with RORB: view

Animal Models for RORB Gene

MGI Knock Outs for RORB:

Animal Model Products

  • Taconic Biosciences Mouse Models for RORB

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RORB Gene

Localization for RORB Gene

Subcellular locations from UniProtKB/Swiss-Prot for RORB Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RORB gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RORB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
GO:0090575 RNA polymerase II transcription factor complex IBA --
genes like me logo Genes that share ontologies with RORB: view

Pathways & Interactions for RORB Gene

genes like me logo Genes that share pathways with RORB: view

Pathways by source for RORB Gene

1 BioSystems pathway for RORB Gene
1 KEGG pathway for RORB Gene
1 Qiagen pathway for RORB Gene

Gene Ontology (GO) - Biological Process for RORB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 7935491
GO:0006366 transcription by RNA polymerase II IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007275 multicellular organism development IEA,IBA --
genes like me logo Genes that share ontologies with RORB: view

No data available for SIGNOR curated interactions for RORB Gene

Drugs & Compounds for RORB Gene

(8) Drugs for RORB Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Melatonin Approved, Vet_approved Nutra Antagonist, Full agonist, Agonist, Target, agonist Melatonin receptors MT inhibitor, Endogenous hormone; agonist at MT1 and MT2 292
Tretinoin Approved, Investigational Nutra Full agonist, Agonist, Antagonist, binder 242
SR 1001 Pharma RORalpha/gamma inverse agonist 0
SR1078 Pharma Orphan receptor agonist, RORalpha/gamma agonist 0
all-trans-4-oxo-retinoic acid Pharma Antagonist 0

(2) Additional Compounds for RORB Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SR 0987
303126-97-8

(4) Tocris Compounds for RORB Gene

Compound Action Cas Number
SR 0987 T cell-specific RORgamma (RORgammat) agonist 303126-97-8
SR 1001 RORalpha/gamma inverse agonist 1335106-03-0
SR 1078 RORalpha/gamma agonist 1246525-60-9
SR 2211 Selective RORgamma inverse agonist 1359164-11-6
genes like me logo Genes that share compounds with RORB: view

Transcripts for RORB Gene

mRNA/cDNA for RORB Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(35) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RORB Gene

RAR-related orphan receptor B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RORB Gene

No ASD Table

Relevant External Links for RORB Gene

GeneLoc Exon Structure for
RORB
ECgene alternative splicing isoforms for
RORB

Expression for RORB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RORB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RORB Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x8.4) and Brain - Cortex (x5.7).

Protein differential expression in normal tissues from HIPED for RORB Gene

This gene is overexpressed in Retina (65.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RORB Gene



Protein tissue co-expression partners for RORB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RORB Gene:

RORB

SOURCE GeneReport for Unigene cluster for RORB Gene:

Hs.494178

Evidence on tissue expression from TISSUES for RORB Gene

  • Eye(4.4)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with RORB: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RORB Gene

Orthologs for RORB Gene

This gene was present in the common ancestor of animals.

Orthologs for RORB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RORB 34 33
  • 99.71 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RORB 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RORB 34 33
  • 95.13 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RORB 34
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rorb 33
  • 94.05 (n)
dog
(Canis familiaris)
Mammalia RORB 34 33
  • 93.54 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rorb 16 34 33
  • 92.96 (n)
chicken
(Gallus gallus)
Aves RORB 34 33
  • 88.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RORB 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rorb 33
  • 83.19 (n)
zebrafish
(Danio rerio)
Actinopterygii rorb 34 33
  • 75.07 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009002 33
  • 53.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hr46 34 35 33
  • 48.69 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhr-23 34 35 33
  • 50.06 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 26 (a)
OneToMany
Species where no ortholog for RORB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RORB Gene

ENSEMBL:
Gene Tree for RORB (if available)
TreeFam:
Gene Tree for RORB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RORB: view image

Paralogs for RORB Gene

Paralogs for RORB Gene

(13) SIMAP similar genes for RORB Gene using alignment to 2 proteins:

  • RORB_HUMAN
  • Q58EY0_HUMAN
genes like me logo Genes that share paralogs with RORB: view

Variants for RORB Gene

Sequence variations from dbSNP and Humsavar for RORB Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs869312971 likely-pathogenic, Inborn genetic diseases 74,634,755(+) T/C coding_sequence_variant, missense_variant
rs869312972 likely-pathogenic, Inborn genetic diseases 74,685,487(+) ACG/ coding_sequence_variant, inframe_deletion
rs1000009199 -- 74,622,846(+) C/A intron_variant
rs1000034451 -- 74,536,241(+) C/T intron_variant
rs1000043683 -- 74,669,333(+) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RORB Gene

Variant ID Type Subtype PubMed ID
dgv487n21 CNV gain 19592680
esv1321162 CNV deletion 17803354
esv2677308 CNV deletion 23128226
esv2738557 CNV deletion 23290073
esv2738558 CNV deletion 23290073
esv2738559 CNV deletion 23290073
esv3544934 CNV deletion 23714750
esv3620703 CNV loss 21293372
esv990769 CNV deletion 20482838
nsv1140998 CNV deletion 24896259
nsv1153436 CNV deletion 26484159
nsv472551 CNV novel sequence insertion 20440878
nsv474120 CNV novel sequence insertion 20440878
nsv476138 CNV novel sequence insertion 20440878
nsv517655 CNV loss 19592680
nsv614658 CNV gain 21841781
nsv6567 CNV deletion 18451855
nsv831622 CNV gain 17160897
nsv831623 CNV gain+loss 17160897

Variation tolerance for RORB Gene

Residual Variation Intolerance Score: 19.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RORB Gene

Human Gene Mutation Database (HGMD)
RORB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RORB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RORB Gene

Disorders for RORB Gene

Additional Disease Information for RORB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RORB Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RORB Gene

Publications for RORB Gene

  1. Evidence for genetic association of RORB with bipolar disorder. (PMID: 19909500) McGrath CL … Tsuang MT (BMC psychiatry 2009) 3 22 44 58
  2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia. (PMID: 19839995) Mansour HA … Nimgaonkar VL (Bipolar disorders 2009) 3 44 58
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58

Products for RORB Gene

Sources for RORB Gene

Content
Loading form....