Gene Gene information from NCBI Gene database.
Entrez ID 6095
Gene name RAR related orphan receptor A
Gene symbol RORA
Synonyms (NCBI Gene)
IDDECANR1F1ROR1ROR2ROR3RORa1RORalphaRZR-ALPHARZRA
Chromosome 15
Chromosome location 15q22.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
1045
miRTarBase ID miRNA Experiments Reference
MIRT017642 hsa-miR-335-5p Microarray 18185580
MIRT020475 hsa-miR-106b-5p Microarray 17242205
MIRT048959 hsa-miR-92a-3p qRT-PCR 23622248
MIRT048959 hsa-miR-92a-3p CLASH 23622248
MIRT054923 hsa-miR-33b-5p Luciferase reporter assayqRT-PCR 23716591
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
HIF1A Activation 14742449
SP1 Activation 14742449
SP3 Activation 14742449
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
82
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 19955433
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 21628546
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600825 10258 ENSG00000069667
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35398
Protein name Nuclear receptor ROR-alpha (Nuclear receptor RZR-alpha) (Nuclear receptor subfamily 1 group F member 1) (RAR-related orphan receptor A) (Retinoid-related orphan receptor-alpha)
Protein 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,
PDB 1N83 , 1S0X , 4S15
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00105 zf-C4 71 140 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 305 494 Ligand-binding domain of nuclear hormone receptor Domain
Tissue specificity 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
Sequence
MESAPAAPDPAASEPGSSGADAAAGSRETPLNQESARKSEPPAPVRRQSYSSTSRGISVT
KKTHTSQIEIIPCKICGDKSSGIHYGVITCEGCKGFFRRSQQSNATYSCPRQKNCLIDRT
SRNRCQHCRLQKCLAVGMSR
DAVKFGRMSKKQRDSLYAEVQKHRMQQQQRDHQQQPGEAE
PLTPTYNISANGLTELHDDLSNYIDGHTPEGSKADSAVSSFYLDIQPSPDQSGLDINGIK
PEPICDYTPASGFFPYCSFTNGETSPTVSMAELEHLAQNISKSHLETCQYLREELQQITW
QTFLQEEIENYQNKQREVMWQLCAIKITEAIQYVVEFAKRIDGFMELCQNDQIVLLKAGS
LEVVFIRMCRAFDSQNNTVYFDGKYASPDVFKSLGCEDFISFVFEFGKSLCSMHLTEDEI
ALFSAFVLMSADRSWLQEKVKIEKLQQKIQLALQHVLQKNHREDGILTKLICKVSTLRAL
CGRHTEKLMAFKAI
YPDIVRLHFPPLYKELFTSEFEPAMQIDG
Sequence length 523
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Th17 cell differentiation
Circadian rhythm
Spinocerebellar ataxia
Inflammatory bowel disease
  RORA activates gene expression
PPARA activates gene expression
Nuclear Receptor transcription pathway
Circadian Clock
SUMOylation of intracellular receptors
Interleukin-4 and Interleukin-13 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
59
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia Likely pathogenic; Pathogenic rs2141286878, rs2542193929, rs2541994504, rs2541966112, rs2542073001, rs2542051635, rs2542049088, rs2542051691, rs2541965807, rs1057518981, rs1555423812, rs1555427498, rs1555427497, rs1595874995, rs1595889010
View all (1 more)
RCV001650476
RCV003123340
RCV003148589
RCV003226882
RCV003314171
View all (11 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder Likely pathogenic rs2141286330 RCV001375024
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual deficiency Likely pathogenic; Pathogenic rs1057518981 RCV000415103
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Accessory kidney Accessory Kidney HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18354269, 22988987, 23153538, 23285131, 30631148
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 28613211
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22104449, 23771907, 28465645
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23593420, 25978653, 27852699
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 27440078
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 18354269, 22988987
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 23278988
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 21060049, 21998696
★☆☆☆☆
Found in Text Mining only