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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 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
  • Retinoid-Related Orphan Receptor Alpha 3
  • Retinoid-Related Orphan Receptor-Alpha 4
  • Transcription Factor RZR-Alpha 3
  • Nuclear Receptor ROR-Alpha 3
  • ROR-Alpha 3
  • RZR-ALPHA 3
  • ROR1 3
  • ROR2 3
  • ROR3 3

External Ids for RORA Gene

Previous GeneCards Identifiers for RORA Gene

  • GC15M056349
  • GC15M053837
  • GC15M058368
  • GC15M058505
  • GC15M058576
  • GC15M060780
  • GC15M037602

Summaries for RORA Gene

Entrez Gene Summary 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 Atrial Tachyarrhythmia With Short Pr Interval and Hypoxia. Among its related pathways are Circadian rhythm and BMAL1-CLOCK,NPAS2 activates circadian gene expression. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is RORB.

UniProtKB/Swiss-Prot 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, 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.

Tocris Summary for RORA Gene

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

Gene Wiki entry for RORA Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RORA Gene

Genomics for RORA Gene

Regulatory Elements for RORA Gene

Enhancers for RORA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F060579 1.4 FANTOM5 Ensembl ENCODE 26.3 +642.9 642940 14.5 PKNOX1 MLX ARID4B FEZF1 DMAP1 YY1 SLC30A9 ZNF207 ZNF143 ZNF263 RORA GC15P060589 GC15P060563
GH15F060538 1 FANTOM5 Ensembl ENCODE 23.5 +682.9 682899 15.5 HDGF TBP PKNOX1 TBL1XR1 BMI1 RAD21 ETV6 FOS CREM ZNF654 RORA ICE2 CYCSP38 PIR43643
GH15F060525 1 FANTOM5 ENCODE 22.2 +703.0 702955 1.2 MXI1 JUN INSM2 MAX FEZF1 ZBTB40 RFX5 GATA3 ZNF366 PATZ1 RORA ANXA2 ENSG00000259274 GC15P060525
GH15F060562 1.4 FANTOM5 ENCODE 20.2 +665.6 665617 3.2 TBL1XR1 MTA2 WRNIP1 BHLHE40 TRIM22 BMI1 EBF1 TBX21 EP300 RELA RORA ANXA2 GC15P060563 CYCSP38
GH15F060567 1.3 FANTOM5 Ensembl ENCODE 17.4 +657.0 657005 9.4 HDGF WRNIP1 ARID4B DMAP1 ZNF48 FOS JUNB TBX21 MAFF NBN RORA GC15P060563 GC15P060589
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RORA on UCSC Golden Path with GeneCards custom track

Promoters for RORA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001795694 819 3000 CTCF PKNOX1 SIN3A ZNF384 RAD21 YY1 ZFHX2 GLIS2 ZBTB48 ZNF366

Genomic Location for RORA Gene

Chromosome:
15
Start:
60,488,284 bp from pter
End:
61,229,319 bp from pter
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:
RORA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RORA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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).

    Three dimensional structures from OCA and Proteopedia for RORA Gene

    Alternative splice isoforms for RORA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RORA Gene

Post-translational modifications for RORA Gene

  • 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.
  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RORA Gene

Domains & Families for RORA Gene

Gene Families for RORA Gene

Graphical View of Domain Structure for InterPro Entry

P35398

UniProtKB/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.
  • Contains 1 nuclear receptor DNA-binding domain.
Family:
  • Belongs to the nuclear hormone receptor family. NR1 subfamily.
genes like me logo Genes that share domains with RORA: view

Function for RORA Gene

Molecular function for RORA Gene

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
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, 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.

Gene Ontology (GO) - Molecular Function 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:0001046 core promoter sequence-specific DNA binding IDA 21628546
GO:0001222 transcription corepressor binding IPI 9328355
GO:0001223 transcription coactivator binding IPI 9862959
GO:0003677 DNA binding IEA,IDA 7926749
genes like me logo Genes that share ontologies with RORA: view
genes like me logo Genes that share phenotypes with RORA: view

Animal Models for RORA Gene

MGI Knock Outs for RORA:

Animal Model Products

  • Taconic Biosciences Mouse Models for RORA

miRNA for RORA Gene

miRTarBase miRNAs that target RORA

Flow Cytometry Products

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

Localization for RORA Gene

Subcellular locations from UniProtKB/Swiss-Prot for RORA Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RORA Gene COMPARTMENTS Subcellular localization image for RORA gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for RORA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 18658046
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with RORA: view

Pathways & Interactions for RORA Gene

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

SIGNOR curated interactions for RORA Gene

Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for RORA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IMP 18658046
GO:0006351 transcription, DNA-templated IEA --
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 --
genes like me logo Genes that share ontologies with RORA: view

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
Citalopram Approved Pharma 503
cholesterol Experimental Pharma Agonist, Target 0
Cholesterol-Sulfate Experimental Pharma Target 0
SR1078 Pharma Orphan receptor agonist, RORalpha/gamma agonist 0
7-hydroxycholesterol Pharma Agonist 0

(8) Additional Compounds for RORA Gene - From: Novoseek and Tocris

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

(4) Tocris Compounds for RORA Gene

Compound Action Cas Number
SR 0987 T cell-specific RORgamma (RORgammat) agonist 303126-97-8
SR 1001 RORalpha/gamma inverse agonist 1335106-03-0
SR 1078 RORalpha/gamma agonist 1246525-60-9
SR 2211 Selective RORgamma inverse agonist 1359164-11-6

(2) ApexBio Compounds for RORA Gene

Compound Action Cas Number
SR1078 Orphan receptor agonist 1246525-60-9
SR3335 RORα agonist,partial inverse and selective 293753-05-6
genes like me logo Genes that share compounds with RORA: view

Transcripts for RORA Gene

Unigene Clusters for RORA Gene

RAR-related orphan receptor A:
Representative Sequences:

Flow Cytometry Products

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

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
ECgene alternative splicing isoforms for
RORA

Expression for RORA Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for RORA Gene

This gene is overexpressed in Plasma (52.9) and Heart (16.1).

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



Protein tissue co-expression partners for RORA Gene

NURSA nuclear receptor signaling pathways regulating expression of RORA Gene:

RORA

SOURCE GeneReport for Unigene cluster for RORA Gene:

Hs.560343

mRNA 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).
genes like me logo Genes that share expression patterns with RORA: view

Primer Products

Orthologs for RORA Gene

This gene was present in the common ancestor of animals.

Orthologs for RORA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RORA 34 35
  • 99.94 (n)
oppossum
(Monodelphis domestica)
Mammalia RORA 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RORA 34 35
  • 96.81 (n)
cow
(Bos Taurus)
Mammalia RORA 34 35
  • 96.24 (n)
mouse
(Mus musculus)
Mammalia Rora 34 16 35
  • 90.88 (n)
rat
(Rattus norvegicus)
Mammalia Rora 34
  • 89.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RORA 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves RORALPHA1 35
  • 96 (a)
OneToOne
RORA 34
  • 88.91 (n)
lizard
(Anolis carolinensis)
Reptilia RORA 35
  • 97 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii roraa 34 35
  • 78.09 (n)
zgc55954 34
fruit fly
(Drosophila melanogaster)
Insecta Hr46 36 35
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea nhr-23 36 35
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 27 (a)
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)

Paralogs for RORA Gene

Variants for RORA Gene

Sequence variations from dbSNP and Humsavar for RORA Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs100018 -- 60,788,089(+) tgatc(A/G)tgtct intron-variant
rs1000306 -- 60,760,522(-) AAGCT(C/T)CCTTA intron-variant
rs1002147 -- 61,218,972(-) AGCTA(C/G)ACACA intron-variant
rs1006124 -- 61,123,941(-) GGCTG(A/G)AGTGA intron-variant
rs10083629 -- 60,894,397(+) TTTCT(G/T)ACATT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1221n106 CNV deletion 24896259
dgv2612n100 CNV gain 25217958
dgv2613n100 CNV loss 25217958
dgv305e201 CNV deletion 23290073
dgv451e199 CNV deletion 23128226
esv1376643 CNV deletion 17803354
esv1398607 CNV insertion 17803354
esv22230 CNV loss 19812545
esv23039 CNV gain 19812545
esv2520429 CNV deletion 19546169
esv2676310 CNV deletion 23128226
esv2749755 CNV deletion 23290073
esv2749757 CNV deletion 23290073
esv2749759 CNV deletion 23290073
esv2749760 CNV deletion 23290073
esv2749761 CNV deletion 23290073
esv3303607 CNV mobile element insertion 20981092
esv3306375 CNV mobile element insertion 20981092
esv3309834 CNV mobile element insertion 20981092
esv3332138 CNV insertion 20981092
esv3350166 CNV insertion 20981092
esv3353354 CNV insertion 20981092
esv3361622 CNV insertion 20981092
esv33678 CNV loss 17666407
esv3399750 CNV insertion 20981092
esv3423392 CNV insertion 20981092
esv3426459 CNV insertion 20981092
esv3552528 CNV deletion 23714750
esv3552531 CNV deletion 23714750
esv3581734 CNV loss 25503493
esv3581735 CNV loss 25503493
esv3636673 CNV loss 21293372
esv3636674 CNV loss 21293372
esv3636679 CNV loss 21293372
esv998706 CNV deletion 20482838
nsv1041460 CNV gain 25217958
nsv1042257 CNV loss 25217958
nsv1049839 CNV loss 25217958
nsv1070700 CNV deletion 25765185
nsv1070701 CNV deletion 25765185
nsv1116078 CNV deletion 24896259
nsv1127438 CNV deletion 24896259
nsv1134455 CNV deletion 24896259
nsv1144737 CNV deletion 24896259
nsv1556 CNV insertion 18451855
nsv472868 CNV novel sequence insertion 20440878
nsv507784 OTHER sequence alteration 20534489
nsv518973 CNV loss 19592680
nsv520362 CNV loss 19592680
nsv520539 CNV loss 19592680
nsv522462 CNV loss 19592680
nsv524148 CNV loss 19592680
nsv525689 CNV gain 19592680
nsv525850 CNV loss 19592680
nsv527607 CNV loss 19592680
nsv529007 CNV gain 19592680
nsv569609 CNV loss 21841781
nsv7266 OTHER inversion 18451855
nsv827346 CNV loss 20364138
nsv827347 CNV loss 20364138
nsv957996 CNV deletion 24416366
nsv977726 CNV duplication 23825009

Variation tolerance for RORA Gene

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)

Relevant External Links for RORA Gene

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

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

Disorders for RORA Gene

MalaCards: The human disease database

(5) MalaCards diseases for RORA Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
atrial tachyarrhythmia with short pr interval
  • lown-ganong-levine syndrome
hypoxia
epidermolysis bullosa acquisita
  • acquired epidermolysis bullosa
post-traumatic stress disorder
  • traumatic neurosis
hypoalphalipoproteinemia
  • hdl deficiency, type 2
- elite association - COSMIC cancer census association via MalaCards
Search RORA in MalaCards View complete list of genes associated with diseases

Relevant External Links for RORA

Genetic Association Database (GAD)
RORA
Human Genome Epidemiology (HuGE) Navigator
RORA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RORA
genes like me logo Genes that share disorders with RORA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RORA Gene

Publications for RORA Gene

  1. Modulation of retinoic acid receptor-related orphan receptor alpha and gamma activity by 7-oxygenated sterol ligands. (PMID: 19965867) Wang Y. … Burris T.P. (J. Biol. Chem. 2010) 3 4 22 64
  2. 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 A.C. … DeAngelis M.M. (Vision Res. 2010) 3 22 46 64
  3. SUMOylation of RORalpha potentiates transcriptional activation function. (PMID: 19041634) Hwang E.J. … Kim K.I. (Biochem. Biophys. Res. Commun. 2009) 3 4 22 64
  4. Evidence for genetic association of RORB with bipolar disorder. (PMID: 19909500) McGrath C.L. … Tsuang M.T. (BMC Psychiatry 2009) 3 22 46 64
  5. Isoform-specific inhibition of ROR alpha-mediated transcriptional activation by human FOXP3. (PMID: 18354202) Du J. … Ziegler S.F. (J. Immunol. 2008) 3 4 22 64

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