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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 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]
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.
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.
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 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 18658046 |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
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2 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
3 | Circadian rhythm |
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Circadian Clock in Mammals
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4 | Th17 cell differentiation | ||
5 | Cytokine Signaling in Immune system |
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 | -- |
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 |
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303126-97-8 |
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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: | - | - |
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 |
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||
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
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atrial tachyarrhythmia with short pr interval |
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epidermolysis bullosa acquisita |
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hypoxia |
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brachydactyly, type b1 |
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