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The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It 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, as we... See more...
Aliases for RORA Gene
Aliases for RORA Gene
External Ids for RORA Gene
- HGNC: 10258
- NCBI Entrez Gene: 6095
- Ensembl: ENSG00000069667
- OMIM®: 600825
- UniProtKB/Swiss-Prot: P35398
Previous GeneCards Identifiers for RORA Gene
- GC15M056349
- GC15M053837
- GC15M058368
- GC15M058505
- GC15M058576
- GC15M060780
- GC15M037602
Summaries for RORA Gene
-
The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It 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, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]
GeneCards Summary for RORA Gene
RORA (RAR Related Orphan Receptor A) is a Protein Coding gene. Diseases associated with RORA include Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia and Hypoxia. Among its related pathways are Circadian rhythm and Spinocerebellar ataxia. 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 RORB.
UniProtKB/Swiss-Prot Summary for RORA 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. Key regulator of embryonic development, cellular differentiation, immunity, circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism. Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respectively. Recruits distinct combinations of cofactors to target genes regulatory regions to modulate their transcriptional expression, depending on the tissue, time and promoter contexts. Regulates genes involved in photoreceptor development including OPN1SW, OPN1SM and ARR3 and skeletal muscle development with MYOD1. Required for proper cerebellum development (PubMed:29656859). Regulates SHH gene expression, among others, to induce granule cells proliferation as well as expression of genes involved in calcium-mediated signal transduction. Regulates the circadian expression of several clock genes, including CLOCK, ARNTL/BMAL1, NPAS2 and CRY1. Competes with NR1D1 for binding to their shared DNA response element on some clock genes such as ARNTL/BMAL1, CRY1 and NR1D1 itself, resulting in NR1D1-mediated repression or RORA-mediated activation of clock genes expression, leading to the circadian pattern of clock genes expression. Therefore influences the period length and stability of the clock. Regulates genes involved in lipid metabolism such as apolipoproteins APOA1, APOA5, APOC3 and PPARG. In liver, has specific and redundant functions with RORC as positive or negative modulator of expression of genes encoding phase I and phase II proteins involved in the metabolism of lipids, steroids and xenobiotics, such as CYP7B1 and SULT2A1. Induces a rhythmic expression of some of these genes. In addition, interplays functionally with NR1H2 and NR1H3 for the regulation of genes involved in cholesterol metabolism. Also involved in the regulation of hepatic glucose metabolism through the modulation of G6PC and PCK1. In adipose tissue, plays a role as negative regulator of adipocyte differentiation, probably acting through dual mechanisms. May suppress CEBPB-dependent adipogenesis through direct interaction and PPARG-dependent adipogenesis through competition for DNA-binding. Downstream of IL6 and TGFB and synergistically with RORC isoform 2, is implicated in the lineage specification of uncommitted CD4(+) T-helper (T(H)) cells into T(H)17 cells, antagonizing the T(H)1 program. Probably regulates IL17 and IL17F expression on T(H) by binding to the essential enhancer conserved non-coding sequence 2 (CNS2) in the IL17-IL17F locus. Involved in hypoxia signaling by interacting with and activating the transcriptional activity of HIF1A. May inhibit cell growth in response to cellular stress. May exert an anti-inflammatory role by inducing CHUK expression and inhibiting NF-kappa-B signaling.
-
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.
Additional gene information for RORA Gene
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RORA Gene
Genomics for RORA Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RORA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RORA on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RORA
- Top Transcription factor binding sites by QIAGEN in the RORA gene promoter:
-
- AP-1
- CREB
- deltaCREB
- HNF-4alpha1
- p300
Genomic Locations for RORA Gene
Latest Assembly
- chr15:60,488,284-61,229,302
- (GRCh38/hg38)
- Size:
- 741,019 bases
- Orientation:
- Minus strand
Previous Assembly
- chr15:60,780,483-61,521,501
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 741,019 bases
- Orientation:
- Minus strand
Genomic View for RORA Gene
Genes around RORA on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q22.2 by HGNC
- 15q22.2 by Entrez Gene
- 15q22.2 by Ensembl
RORA Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RORA Gene
Proteins for RORA Gene
-
Protein details for RORA Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35398-RORA_HUMAN
- Recommended name:
- Nuclear receptor ROR-alpha
- Protein Accession:
- P35398
- P35397
- P35399
- P45445
- Q495X4
- Q96H83
Protein attributes for RORA Gene
- Size:
- 523 amino acids
- Molecular mass:
- 58975 Da
- Quaternary structure:
-
- Monomer. Interacts (via the DNA-binding domain) with HIF1A; the interaction enhances HIF1A transcription under hypoxia through increasing protein stability. Interacts with CEBPB; the interaction disrupts the interaction CEBPB:EP300. Interacts with the coactivators NCOA2, PPARGC1A (via LXXLL motif), EP300 and MED1. Interacts with the corepressor NCOR1. Interacts with MAGED1 and CTNNB1. Interacts with CRY1 and PER2. Interacts (via AF-2 motif) with PROX1 (By similarity). Interacts with NRIP1. Isoform 4 interacts (via AF-2 motif) with isoform 1 of FOXP3 (via LXXLL motif).
- Miscellaneous:
-
- [Isoform 2]: Produced by alternative promoter usage. Region from 23 to 71 inhibits DNA-binding and transactivation activity.
- [Isoform 3]: Produced by alternative splicing.
- [Isoform 4]: Produced by alternative promoter usage.
Protein Expression for RORA Gene
Post-translational modifications for RORA Gene
- Phosphorylation by conventional PKCs in neurons inhibits transcriptional activity. Phosphorylated on Thr-183 by MAPK1/ERK1 in vitro.
- Sumoylated by SENP1 and SENP2. Sumoylation, promoted by PIAS2, PIAS3, PIAS4 but not PIAS1, enhances the transcriptional activity. Desumoylated by SENP1.
- Ubiquitinated, leading to its degradation by the proteasome. Proteasomal degradation is required for efficient transcriptional activity and is prevented by HR.
- [Isoform 1]: monomethylated at Lys-38 by EZH2, this creates a degron recognized by a DCX (DDB1-DCAF1/VPRBP-CUL4A-RBX1) E3 ubiquitin ligase complex.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for RORA Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences RORA / ROR Alpha Antibody (LS-A2337) and RORA / ROR Alpha Antibody (LS-A5539)
- G Biosciences Immunotag™ RORA Antibody
- BioLegend RORalpha Antibody
- Novus Biologicals Antibodies for RORA
-
Abcam antibodies for RORA
- Invitrogen Antibodies for RORA (AFLGC-RORA)
- antibodies-online: Show 44 available RORA Antibodies ranked by validation data
- Compare Top RORA Antibodies
-
Recommended
- 116 WB Antibodies (anti-human)
- 11 IHC (p) Antibodies (anti-human)
- 9 FACS Antibodies (anti-human)
- 9 IF (p) Antibodies (anti-human)
- 4 IHC Antibodies (anti-human)
- 2 ICFC Antibodies (anti-human)
- 32 WB Antibodies (anti-rat)
- 9 IF (p) Antibodies (anti-rat)
- 4 IHC (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 45 WB Antibodies (anti-mouse)
- 9 IF (p) Antibodies (anti-mouse)
- 4 IHC (p) Antibodies (anti-mouse)
- 2 ICFC Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
-
Santa Cruz Biotechnology (SCBT) Antibodies for RORA
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for RORA
- Origene Custom Protein Services for RORA
-
Abcam proteins for RORA
Assay products for research
- antibodies-online: Show 6 available RORA Elisa Kits ranked by validation data
- Compare Top RORA Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for RORA Gene
Domains & Families for RORA Gene
Gene Families for RORA Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Nuclear receptors
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for RORA Gene
- InterPro:
- Blocks:
-
- Steroid hormone receptor signature
- Nuclear receptor ROR family (1F nuclear receptor) signature
Suggested Antigen Peptide Sequences for RORA Gene
- GenScript: Design optimal peptide antigens:
-
- Retinoid-related orphan receptor alpha (B6ZGS4_HUMAN)
- Thyroid hormone nuclear receptor alpha (F1DAL0_HUMAN)
- Retinoid-related orphan receptor-alpha (RORA_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P35398UniProtKB/Swiss-Prot:
RORA_HUMAN :- The AF-2 (activation function-2) motif is required for recruiting coregulators containing LXXLL motifs.
- Belongs to the nuclear hormone receptor family. NR1 subfamily.
- Domain:
-
- The AF-2 (activation function-2) motif is required for recruiting coregulators containing LXXLL motifs.
- Family:
-
- Belongs to the nuclear hormone receptor family. NR1 subfamily.
Function for RORA Gene
Molecular function for RORA 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. Key regulator of embryonic development, cellular differentiation, immunity, circadian rhythm as well as lipid, steroid, xenobiotics and glucose metabolism. Considered to have intrinsic transcriptional activity, have some natural ligands like oxysterols that act as agonists (25-hydroxycholesterol) or inverse agonists (7-oxygenated sterols), enhancing or repressing the transcriptional activity, respectively. Recruits distinct combinations of cofactors to target genes regulatory regions to modulate their transcriptional expression, depending on the tissue, time and promoter contexts. Regulates genes involved in photoreceptor development including OPN1SW, OPN1SM and ARR3 and skeletal muscle development with MYOD1. Required for proper cerebellum development (PubMed:29656859). Regulates SHH gene expression, among others, to induce granule cells proliferation as well as expression of genes involved in calcium-mediated signal transduction. Regulates the circadian expression of several clock genes, including CLOCK, ARNTL/BMAL1, NPAS2 and CRY1. Competes with NR1D1 for binding to their shared DNA response element on some clock genes such as ARNTL/BMAL1, CRY1 and NR1D1 itself, resulting in NR1D1-mediated repression or RORA-mediated activation of clock genes expression, leading to the circadian pattern of clock genes expression. Therefore influences the period length and stability of the clock. Regulates genes involved in lipid metabolism such as apolipoproteins APOA1, APOA5, APOC3 and PPARG. In liver, has specific and redundant functions with RORC as positive or negative modulator of expression of genes encoding phase I and phase II proteins involved in the metabolism of lipids, steroids and xenobiotics, such as CYP7B1 and SULT2A1. Induces a rhythmic expression of some of these genes. In addition, interplays functionally with NR1H2 and NR1H3 for the regulation of genes involved in cholesterol metabolism. Also involved in the regulation of hepatic glucose metabolism through the modulation of G6PC and PCK1. In adipose tissue, plays a role as negative regulator of adipocyte differentiation, probably acting through dual mechanisms. May suppress CEBPB-dependent adipogenesis through direct interaction and PPARG-dependent adipogenesis through competition for DNA-binding. Downstream of IL6 and TGFB and synergistically with RORC isoform 2, is implicated in the lineage specification of uncommitted CD4(+) T-helper (T(H)) cells into T(H)17 cells, antagonizing the T(H)1 program. Probably regulates IL17 and IL17F expression on T(H) by binding to the essential enhancer conserved non-coding sequence 2 (CNS2) in the IL17-IL17F locus. Involved in hypoxia signaling by interacting with and activating the transcriptional activity of HIF1A. May inhibit cell growth in response to cellular stress. May exert an anti-inflammatory role by inducing CHUK expression and inhibiting NF-kappa-B signaling.
- UniProtKB/Swiss-Prot Induction:
- Induced by oxidative stress and DNA damage. Isoform 4 is induced by hypoxia (through transactivation by HIF1A and SP1), but not isoform 1.
- GENATLAS Biochemistry:
- RAR related orphan receptor alpha,ligand activated transcription factor no known ligand,steroid/thyroid nuclear receptor superfamily,interacting with EP300 and MYOD1 in myogenesis
Phenotypes From GWAS Catalog for RORA Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 19955433 |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA,IDA | 21628546 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISA | -- |
| GO:0001222 | transcription corepressor binding | IPI | 9328355 |
| GO:0001223 | transcription coactivator binding | IEA,IPI | 9862959 |
Phenotypes for RORA Gene
- MGI mutant phenotypes for RORA:
-
inferred from 7 alleles
- nervous system phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- hematopoietic system phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- integument phenotype
- no phenotypic analysis
- taste/olfaction phenotype
- GenomeRNAi human phenotypes for RORA:
Animal Models for RORA Gene
Animal Models for research
-
Taconic Biosciences Mouse Models for RORA
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RORA - Starting at $85 >
- * RORA CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RORA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RORA
-
Santa Cruz Biotechnology (SCBT) CRISPR for RORA
miRNA for RORA Gene
- miRTarBase miRNAs that target RORA
-
- mmu-miR-17-5p (MIRT010174)
- hsa-miR-335-5p (MIRT017642)
- hsa-miR-106b-5p (MIRT020475)
- hsa-miR-92a-3p (MIRT048959)
- mmu-miR-155-5p (MIRT053274)
- hsa-miR-33b-5p (MIRT054923)
- hsa-miR-129-5p (MIRT193383)
- hsa-miR-32-3p (MIRT193412)
- hsa-miR-1179 (MIRT193416)
- hsa-miR-374a-5p (MIRT193434)
- hsa-miR-374b-5p (MIRT193437)
- hsa-let-7f-2-3p (MIRT193442)
- hsa-miR-1185-2-3p (MIRT193444)
- hsa-miR-1185-1-3p (MIRT193445)
- hsa-miR-153-5p (MIRT193461)
- hsa-miR-1250-3p (MIRT193463)
- hsa-let-7a-3p (MIRT193466)
- hsa-let-7b-3p (MIRT193467)
- hsa-let-7f-1-3p (MIRT193468)
- hsa-miR-98-3p (MIRT193469)
- hsa-miR-3611 (MIRT193507)
- hsa-miR-5580-3p (MIRT193527)
- hsa-miR-19a-3p (MIRT193529)
- hsa-miR-19b-3p (MIRT193530)
- hsa-miR-670-3p (MIRT193537)
- hsa-miR-4698 (MIRT193550)
- hsa-miR-548aw (MIRT193552)
- hsa-miR-190a-3p (MIRT193651)
- hsa-miR-1277-5p (MIRT193652)
- hsa-miR-5011-5p (MIRT193655)
- hsa-miR-603 (MIRT193667)
- hsa-miR-8485 (MIRT193668)
- hsa-miR-3662 (MIRT281614)
- hsa-miR-942-5p (MIRT380585)
- hsa-miR-506-5p (MIRT386044)
- hsa-miR-137 (MIRT437406)
- hsa-miR-218-5p (MIRT439748)
- hsa-miR-127-5p (MIRT450695)
- hsa-miR-7843-3p (MIRT450696)
- hsa-miR-4668-5p (MIRT450697)
- hsa-miR-3613-5p (MIRT450698)
- hsa-miR-4786-3p (MIRT450699)
- hsa-miR-4635 (MIRT450700)
- hsa-miR-4781-3p (MIRT450701)
- hsa-miR-4538 (MIRT450702)
- hsa-miR-4453 (MIRT450703)
- hsa-miR-7109-3p (MIRT450704)
- hsa-miR-5010-3p (MIRT534593)
- hsa-miR-2113 (MIRT534594)
- hsa-miR-758-3p (MIRT534595)
- hsa-miR-1290 (MIRT534596)
- hsa-miR-876-5p (MIRT534597)
- hsa-miR-3167 (MIRT534598)
- hsa-miR-3171 (MIRT534599)
- hsa-miR-873-5p (MIRT534600)
- hsa-miR-1246 (MIRT534601)
- hsa-miR-8076 (MIRT534602)
- hsa-miR-144-3p (MIRT534603)
- hsa-miR-101-3p (MIRT534604)
- hsa-miR-4536-5p (MIRT542718)
- hsa-miR-3924 (MIRT542719)
- hsa-miR-1277-3p (MIRT542720)
- hsa-miR-4666a-3p (MIRT542721)
- hsa-miR-381-3p (MIRT542722)
- hsa-miR-300 (MIRT542723)
- hsa-miR-621 (MIRT546678)
- hsa-miR-1468-3p (MIRT546679)
- hsa-miR-548x-5p (MIRT546680)
- hsa-miR-548g-5p (MIRT546681)
- hsa-miR-548f-5p (MIRT546682)
- hsa-miR-548aj-5p (MIRT546683)
- hsa-miR-519e-3p (MIRT546684)
- hsa-miR-515-3p (MIRT546685)
- hsa-miR-33b-3p (MIRT546686)
- hsa-miR-3646 (MIRT546687)
- hsa-miR-186-5p (MIRT546688)
- hsa-miR-3133 (MIRT546689)
- hsa-miR-18a-5p (MIRT546690)
- hsa-miR-4735-3p (MIRT546691)
- hsa-miR-18b-5p (MIRT546692)
- hsa-miR-17-5p (MIRT546693)
- hsa-miR-20a-5p (MIRT546694)
- hsa-miR-20b-5p (MIRT546695)
- hsa-miR-519d-3p (MIRT546696)
- hsa-miR-526b-3p (MIRT546697)
- hsa-miR-93-5p (MIRT546698)
- hsa-miR-106a-5p (MIRT546699)
- hsa-miR-2054 (MIRT546700)
- hsa-miR-7848-3p (MIRT546701)
- hsa-miR-4641 (MIRT546702)
- hsa-miR-656-3p (MIRT546703)
- hsa-miR-504-5p (MIRT546704)
- hsa-miR-10a-5p (MIRT546705)
- hsa-miR-10b-5p (MIRT546706)
- hsa-miR-155-5p (MIRT546707)
- hsa-miR-4775 (MIRT565975)
- hsa-miR-3667-3p (MIRT612549)
- hsa-miR-6734-3p (MIRT612550)
- hsa-miR-483-3p (MIRT612551)
- hsa-miR-4725-5p (MIRT614793)
- hsa-miR-4750-3p (MIRT614794)
- hsa-miR-5685 (MIRT614795)
- hsa-miR-4690-3p (MIRT614796)
- hsa-miR-6765-3p (MIRT614797)
- hsa-miR-3622b-3p (MIRT614798)
- hsa-miR-3622a-3p (MIRT614799)
- hsa-miR-377-3p (MIRT627687)
- hsa-miR-449c-3p (MIRT654164)
- hsa-miR-6740-3p (MIRT654165)
- hsa-miR-8086 (MIRT654166)
- hsa-miR-6870-3p (MIRT654167)
- hsa-miR-622 (MIRT654168)
- hsa-miR-154-3p (MIRT783920)
- hsa-miR-4643 (MIRT786278)
- hsa-miR-466 (MIRT786376)
- hsa-miR-4789-3p (MIRT786772)
- hsa-miR-485-3p (MIRT786875)
- hsa-miR-487a-3p (MIRT786888)
- hsa-miR-539-3p (MIRT787373)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RORA
- Browse OriGene Inhibitory RNA Products For RORA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RORA
Clone products for research
- Applied Biological Materials (abm): Clones for RORA - Starting at $45 >
- * RORA as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG207347
- MG222298
- MR207347
- MR207347L3
- MR207347L4
- MR222298
- MR222298L3
- MR222298L4
- MR227742
- MR230057
- RC202926
- RC202926L1
- RC202926L2
- RC202926L3
- RC202926L4
- RC214618
- RC214618L3
- RC214618L4
- RC216664
- RC216664L3
- RC216664L4
- RC220656
- RC220656L1
- RC220656L2
- RC220656L3
- RC220656L4
- RG202926
- RG214618
- RG216664
- RG220656
- RR204629
- RR204629L3
- RR204629L4
- MR207347L3V
- MR207347L4V
- MR222298L3V
- MR222298L4V
- RC202926L1V
- RC202926L2V
- RC202926L3V
- RC202926L4V
- RC214618L3V
- RC214618L4V
- RC216664L3V
- RC216664L4V
- RC220656L1V
- RC220656L2V
- RC220656L3V
- RC220656L4V
- RR204629L3V
- RR204629L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RORA
- Addgene plasmids for RORA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RORA
Cell Lines for research
-
Horizon Cell Lines for RORA
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RORA Gene
Localization for RORA Gene
Subcellular locations from UniProtKB/Swiss-Prot for RORA Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | ISA | -- |
| GO:0005634 | nucleus | IEA,IDA | 18658046 |
| GO:0005654 | nucleoplasm | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RORA Gene
Pathways & Interactions for RORA Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
.68
|
|
| 2 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
| 3 | Circadian rhythm |
.30
|
Circadian Clock in Mammals
.30
|
| 4 | Th17 cell differentiation | ||
| 5 | Cytokine Signaling in Immune system | ||
Pathways by source for RORA Gene
5 BioSystems pathways for RORA Gene
4 KEGG pathways for RORA Gene
2 Qiagen pathways for RORA Gene
- Circadian Clock in Mammals
- Melatonin Signaling
Interacting Proteins for RORA Gene
Selected Interacting proteins:
P35398-RORA_HUMAN
ENSP00000261523
for RORA Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for RORA
SIGNOR curated interactions for RORA Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001525 | angiogenesis | IMP | 18658046 |
| GO:0006355 | regulation of transcription, DNA-templated | IEA,IDA | 9328355 |
| GO:0006357 | regulation of transcription by RNA polymerase II | IEA,IBA | 21873635 |
| GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
| GO:0006805 | xenobiotic metabolic process | IEA,ISS | -- |
Drugs & Compounds for RORA Gene
(16) Drugs for RORA Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| cholesterol | Approved, Investigational | Pharma | Agonist, Target | 0 | ||
| Citalopram | Approved | Pharma | 613 | |||
| Interferon beta-1a | Approved, Investigational | Pharma | 229 | |||
| Cholesterol sulfate | Experimental | Pharma | Target | 0 | ||
| SR1078 | Pharma | Orphan receptor agonist, RORalpha/gamma agonist | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| SR 0987 |
|
303126-97-8 |
|
|
(4) Tocris Compounds for RORA Gene
(2) ApexBio Compounds for RORA Gene
Transcripts for RORA Gene
mRNA/cDNA for RORA Gene
- 4 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000261523 1951 nts (view in UCSC)
- ENST00000309157 1908 nts (view in UCSC)
- ENST00000335670 10827 nts (view in UCSC)
- ENST00000449337 1701 nts (view in UCSC)
- ENST00000551975 749 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RORA - Starting at $85 >
- * RORA CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RORA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RORA
-
Santa Cruz Biotechnology (SCBT) CRISPR for RORA
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RORA
- Browse OriGene Inhibitory RNA Products For RORA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RORA
Clone products for research
- Applied Biological Materials (abm): Clones for RORA - Starting at $45 >
- * RORA as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG207347
- MG222298
- MR207347
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- MR222298L3
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- RC202926
- RC202926L1
- RC202926L2
- RC202926L3
- RC202926L4
- RC214618
- RC214618L3
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- RC216664
- RC216664L3
- RC216664L4
- RC220656
- RC220656L1
- RC220656L2
- RC220656L3
- RC220656L4
- RG202926
- RG214618
- RG216664
- RG220656
- RR204629
- RR204629L3
- RR204629L4
- MR207347L3V
- MR207347L4V
- MR222298L3V
- MR222298L4V
- RC202926L1V
- RC202926L2V
- RC202926L3V
- RC202926L4V
- RC214618L3V
- RC214618L4V
- RC216664L3V
- RC216664L4V
- RC220656L1V
- RC220656L2V
- RC220656L3V
- RC220656L4V
- RR204629L3V
- RR204629L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RORA
- Addgene plasmids for RORA
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RORA
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||
| SP6: | - | - |
Relevant External Links for RORA Gene
- GeneLoc Exon Structure for
- RORA
Expression for RORA Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Cone Precursor Cells Outer Nuclear Layer
-
Neurons
- Cone Precursor Cells Outer Nuclear Layer
mRNA differential expression in normal tissues according to GTEx for RORA Gene
This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x6.3), Skin - Not Sun Exposed (Suprapubic) (x5.9), and Muscle - Skeletal (x5.4).
This gene is overexpressed in Plasma (52.9) and Heart (16.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RORA Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RORA
SOURCE GeneReport for Unigene cluster for RORA Gene:
Hs.560343mRNA Expression by UniProt/SwissProt for RORA Gene:
P35398-RORA_HUMAN
Tissue specificity:
Widely expressed in a number of tissues. Expressed in both regulatory T-cells (Treg) and effector T-cells (Teff) (PubMed:18354202, PubMed:7916608). Isoform 4: Highly expressed in the central nervous system, including in the cerebellum (PubMed:29656859).
Evidence on tissue expression from TISSUES for RORA Gene
- Eye(4.6)
- Muscle(4.6)
- Kidney(4.5)
- Heart(4.5)
- Skin(4.3)
- Nervous system(4.1)
- Liver(2.8)
- Blood(2.7)
- Lung(2.5)
- Spleen(2.4)
- Intestine(2.4)
- Bone marrow(2.4)
- Adrenal gland(2.3)
- Pancreas(2.1)
- Lymph node(2.1)
- Thyroid gland(2)
Primer products for research
-
OriGene qPCR primer pairs for RORA
-
OriGene qPCR primer pairs and template standards for RORA
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RORA Gene
Orthologs for RORA Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RORA 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RORA 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RORA 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RORA 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Rora 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rora 29 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RORA 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RORALPHA1 30 |
|
OneToOne | |
| RORA 29 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | RORA 30 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | roraa 29 30 |
|
OneToOne | |
| zgc55954 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Hr46 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | nhr-23 30 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for RORA was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- 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 Vase (Ciona intestinalis)
- 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)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for RORA Gene
- ENSEMBL:
- Gene Tree for RORA (if available)
- TreeFam:
- Gene Tree for RORA (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RORA: view image
- Alliance of Genome Resources:
- Additional Orthologs for RORA
Paralogs for RORA Gene
Paralogs for RORA Gene
(45) SIMAP similar genes for RORA Gene using alignment to 3 proteins:
- RORA_HUMAN
- H0YII6_HUMAN
- H0YLS5_HUMAN
Variants for RORA Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RORA Gene
| SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1031120 | Uncertain Significance: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 60,501,043(-) |
A/G NM_134261.3(RORA):c.1210T>C (p.Phe404Leu) |
MISSENSE | |
| 1031121 | Uncertain Significance: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 61,229,079(-) |
C/G NM_134261.3(RORA):c.140G>C (p.Arg47Thr) |
MISSENSE | |
| 1031122 | Uncertain Significance: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 60,531,862(-) |
A/G NM_134261.3(RORA):c.197-11T>C |
INTRON | |
| 776893 | Benign: not provided | 60,497,599(-) |
G/. NM_134261.3(RORA):c.1428= (p.Thr476=) |
SYNONYMOUS_VARIANT,NO_SEQUENCE_ALTERATION | |
| 978160 | Uncertain Significance: Intellectual disability | 60,499,934(-) |
G/T NM_134261.3(RORA):c.1365C>A (p.His455Gln) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
12.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.69;
14.62% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RORA Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RORA Gene
Disorders for RORA Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
|
|
| hypoxia |
|
|
| epidermolysis bullosa acquisita |
|
|
| epilepsy |
|
|
| post-traumatic stress disorder |
|
|
Search RORA in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
RORA_HUMAN- Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060]: An autosomal dominant neurodevelopmental disorder that manifests with variable features of mild-to-severe intellectual disability, developmental delay, autism spectrum disorder, cerebellar ataxia and epilepsy. {ECO:0000269 PubMed:29656859}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for RORA
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for RORA Gene
Publications for RORA Gene
- Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. (PMID: 29656859) Guissart C … Küry S (American journal of human genetics 2018) 3 4 72
- Modulation of retinoic acid receptor-related orphan receptor alpha and gamma activity by 7-oxygenated sterol ligands. (PMID: 19965867) Wang Y … Burris TP (The Journal of biological chemistry 2010) 3 4 22
- Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: a systems biology based approach. (PMID: 19786043) Silveira AC … DeAngelis MM (Vision research 2010) 3 22 40
- SUMOylation of RORalpha potentiates transcriptional activation function. (PMID: 19041634) Hwang EJ … Kim KI (Biochemical and biophysical research communications 2009) 3 4 22
- Evidence for genetic association of RORB with bipolar disorder. (PMID: 19909500) McGrath CL … Tsuang MT (BMC psychiatry 2009) 3 22 40
ExternalLinks
Products for RORA Gene
- Custom Antibody ServicesOriGene Antibodies for RORA
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- Browse OriGene Inhibitory RNA Products For RORA
- OriGene qPCR primer pairs for RORA
- OriGene qPCR primer pairs and template standards for RORA
- OriGene CRISPR knockouts for RORA
- MG207347
- MG222298
- MR207347
- MR207347L3
- MR207347L4
- MR222298
- MR222298L3
- MR222298L4
- MR227742
- MR230057
- RC202926
- RC202926L1
- RC202926L2
- RC202926L3
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- RC214618
- RC214618L3
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- RG202926
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- RR204629
- RR204629L3
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- MR207347L3V
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- RC202926L1V
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- RR204629L3V
- RR204629L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Browse Antibodies
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- Taconic Biosciences Mouse Models for RORA
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- Genetically Engineered Models Available Immediately
- Humanized Mice
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- antibodies-online: Show 44 available RORA Antibodies ranked by validation data
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- 2 ICFC Antibodies (anti-human)
- 32 WB Antibodies (anti-rat)
- 9 IF (p) Antibodies (anti-rat)
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- 1 IHC Antibody (anti-rat)
- 45 WB Antibodies (anti-mouse)
- 9 IF (p) Antibodies (anti-mouse)
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- 2 ICFC Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- antibodies-online: Show 6 available RORA Elisa Kits ranked by validation data
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for RORA
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RORA
Sources for RORA Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources