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 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 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 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 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 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 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 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 This study identifies a novel function of DSCR1 that may underlie DS neuropathology. 15009650 2004
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 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 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 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 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 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
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 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 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 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 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 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 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 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 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