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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
- RAR Related Orphan Receptor A 2 3 5
- Nuclear Receptor Subfamily 1 Group F Member 1 3 4
- RAR-Related Orphan Receptor A 2 4
- Nuclear Receptor ROR-Alpha 3 4
- Nuclear Receptor RZR-Alpha 3 4
- NR1F1 3 4
- RZRA 3 4
- Retinoic Acid Receptor-Related Orphan Receptor Alpha 3
- Thyroid Hormone Nuclear Receptor Alpha Variant 4 3
External Ids for RORA Gene
- HGNC: 10258
- Entrez Gene: 6095
- Ensembl: ENSG00000069667
- OMIM: 600825
- UniProtKB: 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 Atrial Tachyarrhythmia With Short Pr Interval. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Cytokine Signaling in Immune system. 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
- Monarch Initiative
- Search for RORA at DataMed
- Search for RORA at HumanCyc
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 for RORA Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the RORA gene promoter:
-
- AP-1
- CREB
- deltaCREB
- HNF-4alpha1
- p300
Genomic Locations for RORA Gene
Genomic Locations for RORA Gene
- chr15:60,488,284-61,229,303
- (GRCh38/hg38)
- Size:
- 741,020 bases
- Orientation:
- Minus strand
- chr15:60,780,483-61,521,518
- (GRCh37/hg19)
- Size:
- 741,036 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).
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:
Antibody Products
- 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
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Recommended
- 116 WB Antibodies (anti-human)
- 11 IHC (p) Antibodies (anti-human)
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- 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
- Creative Diagnostics Human RORA peptide
- Search Origene for MassSpec and Protein Over-expression Lysates for RORA
- Origene Custom Protein Services for RORA
-
Abcam proteins for RORA
Assay Products
- Aviva Systems Biology RORA ELISA Kit (Human) (OKCD00411)
- 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
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 | IDA | 21628546 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | NAS | 19274049 |
| GO:0001222 | transcription corepressor binding | IPI | 9328355 |
| GO:0001223 | transcription coactivator binding | IPI,IBA | 9862959 |
Phenotypes for RORA Gene
- MGI mutant phenotypes for RORA:
-
inferred from 7 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- integument phenotype
- taste/olfaction phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- reproductive system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for RORA:
-
- Decreased shRNA abundance (Z-score < -2)
- Decreased ionizing radiation sensitivity
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- shRNA abundance <= 50%
- Increased viability
- Increased transferrin (TF) endocytosis
Animal Models for RORA Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for RORA
CRISPR Products
-
OriGene CRISPR knockouts for RORA
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RORA
- genomics-online: gRNA clones - Search for available RORA gRNA products
- Overview of 165 available RORA gene related products
-
Recommended
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-
Santa Cruz Biotechnology (SCBT) CRISPR for RORA
miRNA for RORA Gene
- miRTarBase miRNAs that target RORA
-
- hsa-mir-335-5p (MIRT017642)
- hsa-mir-106b-5p (MIRT020475)
- hsa-mir-92a-3p (MIRT048959)
- 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
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for RORA
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RORA
- genomics-online: shRNA clones - Search for available RORA shRNA products
- Overview of 165 available RORA gene related products
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- MG207347
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- RR204629
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- RR204629L3V
- RR204629L4
- RR204629L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RORA
- Addgene plasmids for RORA
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- genomics-online: cdna clones - Search for available RORA CDNA products
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- Overview of 165 available RORA gene related products
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Cell Line Products
-
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 | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| 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
3 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:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
| GO:0006805 | xenobiotic metabolic process | IEA,ISS | -- |
| GO:0006809 | nitric oxide biosynthetic process | IEA | -- |
Drugs & Compounds for RORA Gene
(15) 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 | 573 | |||
| Cholesterol sulfate | Experimental | Pharma | Target | 0 | ||
| SR1078 | Pharma | Orphan receptor agonist, RORalpha/gamma agonist | 0 | |||
| 7-hydroxycholesterol | Pharma | 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) Additional mRNA sequences :
- (8) Selected AceView cDNA sequences:
- (14) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000261523 1951 bps (ENST00000261523.9)
- ENST00000309157 1908 bps (ENST00000309157.8)
- ENST00000335670 10827 bps (ENST00000335670.10)
- ENST00000449337 1701 bps (ENST00000449337.6)
- ENST00000551975 749 bps (ENST00000551975.5)
CRISPR Products
-
OriGene CRISPR knockouts for RORA
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miRNA Products
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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| 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: | - | - |
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
NURSA nuclear receptor signaling pathways regulating expression of RORA Gene:
RORASOURCE 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(4.5)
- Muscle(4.5)
- Heart(4.2)
- Kidney(4.2)
- Skin(4.1)
- Nervous system(3.9)
- Liver(2.4)
- Blood(2.1)
- Lung(2.1)
Primer Products
-
OriGene qPCR primer pairs for RORA
-
OriGene qPCR primer pairs and template standards for RORA
- genomics-online: primer clones - Search for available RORA Primer products
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Recommended
Gene Expression Assay Products
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 33 32 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | RORA 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | RORA 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | RORA 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Rora 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Rora 32 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | RORA 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RORALPHA1 33 |
|
OneToOne | |
| RORA 32 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | RORA 33 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | roraa 33 32 |
|
OneToOne | |
| zgc55954 32 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Hr46 33 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | nhr-23 33 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
- Species where no ortholog for RORA was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
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
| SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057518981 | likely-pathogenic, pathogenic, Severe intellectual deficiency, INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA | 60,503,591(-) | C/ | coding_sequence_variant, frameshift | |
| rs1433850094 | pathogenic, INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060] | 60,499,914(-) | C/T | coding_sequence_variant, missense_variant | |
| rs1555423812 | pathogenic, INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA | 60,511,241(-) | ACACA/ACA | coding_sequence_variant, frameshift | |
| rs1555427497 | pathogenic, INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060] | 60,531,767(-) | T/C | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
| rs1555427498 | pathogenic, INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA, Intellectual developmental disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060] | 60,531,773(-) | C/G | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant |
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 Assay Products
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 |
|
|
| atrial tachyarrhythmia with short pr interval |
|
|
| epidermolysis bullosa acquisita |
|
|
| hypoxia |
|
|
| brachydactyly, type b1 |
|
|
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 mutations affecting the gene represented in this entry.
Additional Disease Information for RORA
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for RORA Gene
Publications for RORA Gene
- 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 23 56
- 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 23 43 56
- Evidence for genetic association of RORB with bipolar disorder. (PMID: 19909500) McGrath CL … Tsuang MT (BMC psychiatry 2009) 3 23 43 56
- SUMOylation of RORalpha potentiates transcriptional activation function. (PMID: 19041634) Hwang EJ … Kim KI (Biochemical and biophysical research communications 2009) 3 4 23 56
- Isoform-specific inhibition of ROR alpha-mediated transcriptional activation by human FOXP3. (PMID: 18354202) Du J … Ziegler SF (Journal of immunology (Baltimore, Md. : 1950) 2008) 3 4 23 56
ExternalLinks
Products for RORA Gene
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Sources for RORA Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140)