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FLASH GENE
Symbol RORA contributors: mct/ - updated : 06-06-2018
HGNC name RAR-related orphan receptor A
HGNC id 10258
ASSOCIATED DISORDERS
corresponding disease(s) NDDCMB
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       loss of function
in multiple tumors
constitutional     --low  
in the autistic brain
constitutional       loss of function
led to decreased levels of proinflammatory cytokines and increased levels of antiinflammatory cytokines in retinopathy
tumoral     --low  
down-regulated and/or hypoactivated in breast cancer compared to normal mammary tissue
Susceptibility to orofacial cleft
Variant & Polymorphism other
  • variants in SHH, RORA, MRPL53, ACVR1, and GDF11 may contribute to risk of orofacial clefts
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    digestiveliver 
    melatonin directly suppresses hepatic stellate cells (HSC) activation via RORA-mediated inhibition of ALOX5 expression, which provides novel drug targets to treat liver fibrosis
    neurosensorialvisualretina
    RORA inhibition may represent a new way to treat ocular neovascularizatio
    cancerreproductivebreast
    potential therapeutic target for breast cancer
    ANIMAL & CELL MODELS
  • (sg/sg) mouse,with a staggerer mutation consisting of an intragenic CNV that results in a 122-bp frameshifting deletion that truncates the ligand binding domain, leading to the loss of Rora activity (this phenotype is similar to Rora-/- mice)
  • liver-specific Rora-deficient mice develop hepatic steatosis, obesity and insulin resistance when challenged with a high-fat diet (HFD)
  • mice lacking a functional ROR&
  • 945; display a range of metabolic abnormalities including decreased serum cholesterol and plasma triglycerides