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FLASH GENE
Symbol RCAN1 contributors: mct/pgu/shn - updated : 13-09-2023
HGNC name regulator of calcineurin 1
HGNC id 3040
ASSOCIATED DISORDERS
corresponding disease(s) TRI21
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
chronic overexpression associated with Alzheimer disease or Down syndrome progression, and contributes to neuronal dysfunction in these neurological disorders
constitutional     --over  
increases neuronal susceptibility to oxidative stress
constitutional     --over  
in brains of Down syndrome fetuses, and in the cerebral cortex and hippocampus of sporadic AD patients
constitutional     --over  
promoted endothelial cell proliferation and angiogenesis
constitutional     --over  
increased expression of in individuals with trisomy 21 is probably a significant contributor to the decreased cancer incidence in this population
constitutional     --over  
in primary neurons activates caspase-9 and caspase-3 and subsequently induces neuronal apoptosis
constitutional     --over  
may contribute to AD pathogenesis by mediating neuronal death in the brains of DS and AD patients
constitutional     --over  
overexpression of RCAN1, as observed in DS and AD, may enhance CREB1 signaling by blocking calcineurin activity
constitutional       loss of function
can contribute to Huntington disease
tumoral     --over  
markedly reduced glioma cells viability
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
neurologyneurodegenerative 
therapeutic targets in the context of neurodegenerative processes
cancerangiogenesis 
signaling pathway that regulates RCAN1 expression are excellent targets for cancer anti-angiogenic therapy
cancer  
calcineurin signalling pathway, and its regulators RCAN1 and DYRK1A, are potential therapeutic targets in cancers arising in all individuals
neurology  
potential new target for treating calcineurin-related brain disorders
neurologyneurodegenerativealzheimer
potential of targeting RCAN1 as a new therapeutic approach
ANIMAL & CELL MODELS
  • overexpressed in the brain of Down syndrome fetuses
  • lack of MCIP1 exacerbated the hypertrophic response to activated calcineurin expressed from a muscle-specific transgene
  • RCAN1 knockout mice exhibited an attenuated mesenteric vasoconstriction to phenylephrine as compared with wild-type
  • H2O2 induces decrease in RCAN1 in hippocampal and cortical neurons
  • RCAN1-TG mice display T cell developmental defects in the thymus and peripheral immune tissues
  • modestly increased Rcan1 expression afforded by a single extra copy is sufficient to suppress pancreatic tumorigenesis mediated by oncogenic KrasG12D in mice through attenuation of calcineurin–NFAT signaling