RCAN1, regulator of calcineurin 1, 1827

N. diseases: 110; N. variants: 7
Disease: Down Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE 3) or DS candidate region 1 (DSCR1) genes (a previously known suppressor of angiogenesis) is sufficient to inhibit tumour growth. 20535211 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE Trisomy 21 in patients with DS results in increased activity of an important antioxidant enzyme Cu/Zn superoxide dismutase (SOD) which gene is located on the 21st chromosome along with other proteins such as transcription factor Ets-2, stress inducing factors (DSCR1) and precursor of beta-amyloid protein responsible for the formation of amyloid plaques in Alzheimer disease. 24908086 2014
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE DSCR1 and DSCR1(e4)/lacZ also are expressed in other organ systems affected by trisomy 16 in mice or trisomy 21 in humans including the brain, eye, ear, face, and limbs. 14738882 2004
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Down syndrome candidate region 1 (DSCR1) is one of more than 50 genes located in a region of chromosome 21 that has been implicated in Down syndrome. 17114339 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 PosttranslationalModification disease LHGDN Down syndrome candidate region 1 (DSCR1) gene, which is located on chromosome 21, is highly expressed in the brain of Down syndrome patients. 18056702 2008
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE DSCR1/RCAN1 regulates vesicle exocytosis and fusion pore kinetics: implications for Down syndrome and Alzheimer's disease. 18180251 2008
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE RCAN1 transgenic (TG) mice exhibit T cell abnormalities that bear a striking similarity to the abnormalities described in individuals with DS. 23644448 2013
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE RCAN1 levels are increased in the brain of DS and AD patients but also in the human brain with normal aging. 26497675 2015
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE RCAN1 (regulator of calcineurin 1) contributes to CHD in Down syndrome. 28993896 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Regulator of calcineurin 1 (RCAN1) is a multifunctional protein involved in neurodegeneration, mitochondrial dysfunction, inflammation and protein glycosylation, and plays an important role in the pathogenesis of Down syndrome and Alzheimer's disease. 31451750 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 GeneticVariation disease BEFREE A subset of chromosome 21 genes including the DSCR1 gene involved in fetal heart development was consistently up-regulated in different prenatal tissues (AC, CV) of trisomy 21 fetuses whereas only minor changes were found for genes of all other chromosomes. 18253026 2007
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Although regulator of calcineurin 1 (RCAN1) belongs to this region and its ectopic overexpression in neurons impairs transmitter release, synaptic plasticity, learning and memory, the relative contribution of RCAN1 in a context of DS has yet to be clarified. 30034324 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Among the known human genes whose study was affected by this artifact, we can include disco interacting protein 2 homolog A (DIP2A; KIAA0184), Down syndrome critical region 1 (DSCR1), SON DNA binding protein (SON), trefoil factor 3 (TFF3) and URB1 ribosome biogenesis 1 homolog (URB1; KIAA0539) on chromosome 21, as well as receptor for activated C kinase 1 (RACK1, also known as GNB2L1), glutaminyl‑tRNA synthetase (QARS) and tyrosyl-DNA phosphodiesterase 2 (TDP2) along with another 474 loci, including interleukin 16 (IL16). 28393177 2017
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Co-amplification of a portion of DSCR1 (Down syndrome Critical Region 1) and the reference gene, CFTR (cystic fibrosis transmembrane regulator) enabled molecular detection of trisomy 21. 12673631 2003
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Dysregulation of two genes, Dyrk1a and Rcan1, key to craniofacial and neurological precursors of DS, was shared in craniofacial precursors of DS and FAS embryos. 23554291 2013
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE Ets-2 and DSCR1 overexpression in DS has been linked to cell degeneration. 17168651 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Furthermore, the map enabled us to present evidence against the necessary involvement of other loci as well as specific hypotheses that have been put forward in relation to the etiology of DS-i.e., the presence of a single DS consensus region and the sufficiency of DSCR1 and DYRK1A, or APP, in causing several severe DS phenotypes. 19597142 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Genes such as DSCR1 that are duplicated in Down syndrome might not play an important role in tumorigenesis of epithelial ovarian cancer. 19331211 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE Genes that are overexpressed in DS (APP, DSCAM, MNB/DYRK1A, and RCAN1) produce proteins critical for neuron and synapse growth, development and maintenance. 17361036 2007
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE Genetically correcting RCAN1 levels in Down syndrome mice markedly improves NGF-dependent receptor trafficking, neuronal survival and innervation. 26658127 2015
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE Here we show that DSCR1, the product of a chromosome 21 gene highly expressed in brain, heart and skeletal muscle, is overexpressed in the brain of Down syndrome fetuses, and interacts physically and functionally with calcineurin A, the catalytic subunit of the Ca(2+)/calmodulin-dependent protein phosphatase PP2B. 10861295 2000
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Here, we find that CREB decreases the protein level of Regulator of Calcineurin Activity 1 (RCAN1/DSCR1/MCIP1), which is overexpressed in the brain of Down Syndrome (DS) patients. 18485898 2008
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease LHGDN However, chronic expression of the DSCR1 (Adapt78) gene has now been implicated in several pathological conditions including Alzheimer's disease, Down syndrome and cardiac hypertrophy. 16231093 2005
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 GeneticVariation disease BEFREE However, our patient is the first patient with Down syndrome whose clinical findings were provided in detail, with a de novo derivative chromosome 21 resulting from multiple chromosome breaks excluding DYRK1A and DSCR1 gene regions. 22827956 2012
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE However, strong evidence also supports the notion that chronic (weeks-years) overexpression of RCAN1 has a detrimental effect on cells and that this may drive pathophysiological changes in neurons and endocrine cells linked to Down syndrome, Alzheimer's Disease and type 2 diabetes. 29094385 2018