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 AlteredExpression disease BEFREE In contrast, prolonged elevation of RCAN1-1L levels is associated with the types of neurodegeneration observed in several diseases, including Alzheimer disease and Down syndrome. 23369757 2013
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE In this report, we found that the regulator of calcineurin 1 (RCAN1), which is overexpressed in the brain of patients with Down syndrome, increased the phosphorylation of CREB and cAMP response element-mediated gene transcription in response to the activation of the intracellular cAMP pathway. 21890628 2011
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE Meanwhile, RCAN1 is an endogenous inhibitor of calcineurin A, and its unbalanced activity is thought to cause major neuronal and/or non-neuronal malfunction in DS and AD. 19192387 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE Our data show that RCAN1 expression is elevated in the cortex of DS and AD patients. 21216952 2011
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Our results imply that DSCR1 is a novel regulator of FMRP and that Fragile X syndrome and Down syndrome may share disturbances in common pathways that regulate dendritic spine morphology and local protein synthesis. 22863780 2012
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease LHGDN Our results reveal a new regulatory role for CREB in DS pathology through the proteasomal degradation of RCAN1. 18485898 2008
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE Our study reveals that DSCR1 plays a critical upstream role in epigenetic regulation of adult neurogenesis and provides insights into potential therapeutic strategy for treating cognitive defects in Down syndrome. 31304631 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE Oxidative stress and overexpression of RCAN1 are implicated in neuronal impairment in Down's syndrome (DS) and Alzheimer's disease (AD). 27928873 2017
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE Structural characteristics, together with its particular expression in brain and heart, encourage us to suggest that the overexpression of DSCR1 may be involved in the pathogenesis of Down syndrome, in particular mental retardation and/or cardiac defects. 8595418 1995
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease LHGDN The Down syndrome critical region 1 (DSCR1) gene (also known as MCIP1, Adapt78) encodes a regulatory protein that binds to calcineurin catalytic A subunit and acts as a regulator of the calcineurin-mediated signaling pathway. 15358155 2004
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE The Down syndrome candidate region 1 (DSCR1) gene is located on human chromosome 21 and its protein is over-expressed in brains of Down syndrome individuals. 23144708 2012
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 GeneticVariation disease BEFREE The chromosome 21 gene RCAN1, encoding a modulator of the calcineurin (CaN) phosphatase, is a candidate gene for contributing to cognitive disability in people with Down syndrome (DS; trisomy 21). 23096997 2013
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE The Down syndrome critical region 1 (DSCR1) gene encodes a regulator of the calcineurin 1 (RCAN1) protein, and the elevated levels of RCAN1 are associated with Alzheimer's disease (AD) and Down syndrome (DS). 22293192 2012
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE There is now compelling evidence that the protein products of two genes on chromosome 21, Down syndrome candidate region 1 (DSCR1) and dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), interact functionally, and that their increased dosage cooperatively leads to dysregulation of the signaling pathways that are controlled by the nuclear factor of activated T cells (NFAT) family of transcription factors, with potential consequences for several organs and systems that are affected in DS individuals. 16919501 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease LHGDN There is now compelling evidence that the protein products of two genes on chromosome 21, Down syndrome candidate region 1 (DSCR1) and dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), interact functionally, and that their increased dosage cooperatively leads to dysregulation of the signaling pathways that are controlled by the nuclear factor of activated T cells (NFAT) family of transcription factors, with potential consequences for several organs and systems that are affected in DS individuals. 16919501 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE These RCAN1 isoform 4 effects may contribute to at least some of the observed phenotypes in individuals with Down syndrome and Alzheimer's. 23317802 2013
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease CTD_human These data demonstrate that trisomy of DSCR1 alone does not significantly contribute to developmental defects in Ts16 mice and underscore the complexity of developmental anomalies associated with Down syndrome. 15906378 2005
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE These data provide a mechanism for the reduced cancer incidence in Down's syndrome and identify the calcineurin signalling pathway, and its regulators DSCR1 and DYRK1A, as potential therapeutic targets in cancers arising in all individuals. 19458618 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE These data provide evidence that a single extra copy of Dscr1 is sufficient to suppress tumor angiogenesis during spontaneous lung tumorigenesis and further support our hypothesis that suppression of tumor angiogenesis by an additional copy of Dscr1 contributes to the reduced cancer incidence in individuals with Down syndrome and the calcineurin pathway in the tumor vasculature is a potential target for cancer treatment. 24051307 2014
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE These results may help elucidate a new function for DSCR1 and its participation in Down's syndrome pathogenesis. 15264020 2004
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 AlteredExpression disease BEFREE These results, combined with our data showing that the same biochemical signaling pathway is altered in human DS fetal brain tissue overexpressing DSCR1, suggest that alteration of DSCR1 expression could contribute to mental retardation in DS. 14668437 2003
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE This expression pattern indicated that Dscr1 is a developmentally regulated gene involved in neurogenesis and cardiogenesis and suggests that it may contribute to the alterations observed in these organ systems in DS patients. 11231093 2001
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease BEFREE This information should help us to understand the possible relationship of DSCR1 with Down syndrome and aid in the development of animal models. 9325060 1997
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 GeneticVariation disease BEFREE This lethal phenotype contrasted with, and was surprising in light of, mouse models of Down syndrome where multiple chromosome 21 genes including Dscr1 are overexpressed and survive to term. 16198305 2005
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.400 Biomarker disease LHGDN This review discusses in detail the known and potential roles of ITSN1 and DSCR1 in DS, AD, endocytosis and vesicle trafficking. 16442855 2006