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RCAN1 (regulator of calcineurin 1)

Identity

Alias_namesDSCR1
Down syndrome critical region gene 1
Other aliasADAPT78
CSP1
DSC1
MCIP1
RCN1
HGNC (Hugo) RCAN1
LocusID (NCBI) 1827
Atlas_Id 50865
Location 21q22.12  [Link to chromosome band 21q22]
Location_base_pair Starts at 34516443 and ends at 34613843 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
APP (21q21.3) / RCAN1 (21q22.12)RCAN1 (21q22.12) / GART (21q22.11)RCAN1 (21q22.12) / RCAN1 (21q22.12)
RCAN1 (21q22.12) / RUNX1 (21q22.12)SRP68 (17q25.1) / RCAN1 (21q22.12)TNPO3 (7q32.1) / RCAN1 (21q22.12)
APP 21q21.3 / RCAN1 21q22.12RCAN1 21q22.12 / GART 21q22.11RCAN1 21q22.12 / RUNX1 21q22.12
SRP68 17q25.1 / RCAN1 21q22.12TNPO3 7q32.1 / RCAN1 21q22.12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)RCAN1   3040
Cards
Entrez_Gene (NCBI)RCAN1  1827  regulator of calcineurin 1
AliasesADAPT78; CSP1; DSC1; DSCR1; 
MCIP1; RCN1
GeneCards (Weizmann)RCAN1
Ensembl hg19 (Hinxton)ENSG00000159200 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159200 [Gene_View]  chr21:34516443-34613843 [Contig_View]  RCAN1 [Vega]
ICGC DataPortalENSG00000159200
TCGA cBioPortalRCAN1
AceView (NCBI)RCAN1
Genatlas (Paris)RCAN1
WikiGenes1827
SOURCE (Princeton)RCAN1
Genetics Home Reference (NIH)RCAN1
Genomic and cartography
GoldenPath hg38 (UCSC)RCAN1  -     chr21:34516443-34613843 -  21q22.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RCAN1  -     21q22.12   [Description]    (hg19-Feb_2009)
EnsemblRCAN1 - 21q22.12 [CytoView hg19]  RCAN1 - 21q22.12 [CytoView hg38]
Mapping of homologs : NCBIRCAN1 [Mapview hg19]  RCAN1 [Mapview hg38]
OMIM602917   
Gene and transcription
Genbank (Entrez)AF303449 AF400429 AI079710 AK055845 AK092184
RefSeq transcript (Entrez)NM_001285389 NM_001285391 NM_001285392 NM_001285393 NM_001331016 NM_004414 NM_203417 NM_203418
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RCAN1
Cluster EST : UnigeneHs.282326 [ NCBI ]
CGAP (NCI)Hs.282326
Alternative Splicing GalleryENSG00000159200
Gene ExpressionRCAN1 [ NCBI-GEO ]   RCAN1 [ EBI - ARRAY_EXPRESS ]   RCAN1 [ SEEK ]   RCAN1 [ MEM ]
Gene Expression Viewer (FireBrowse)RCAN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1827
GTEX Portal (Tissue expression)RCAN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP53805   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP53805  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP53805
Splice isoforms : SwissVarP53805
PhosPhoSitePlusP53805
Domains : Interpro (EBI)Calcipressin    RCAN1    RRM_dom   
Domain families : Pfam (Sanger)Calcipressin (PF04847)   
Domain families : Pfam (NCBI)pfam04847   
Conserved Domain (NCBI)RCAN1
DMDM Disease mutations1827
Blocks (Seattle)RCAN1
SuperfamilyP53805
Human Protein AtlasENSG00000159200
Peptide AtlasP53805
HPRD04226
IPIIPI00023978   IPI00215936   IPI00397167   IPI00397168   IPI00441985   
Protein Interaction databases
DIP (DOE-UCLA)P53805
IntAct (EBI)P53805
FunCoupENSG00000159200
BioGRIDRCAN1
STRING (EMBL)RCAN1
ZODIACRCAN1
Ontologies - Pathways
QuickGOP53805
Ontology : AmiGODNA binding  transcription factor activity, sequence-specific DNA binding  nucleus  cytoplasm  regulation of transcription, DNA-templated  signal transduction  central nervous system development  blood circulation  calcium-dependent protein serine/threonine phosphatase regulator activity  calcineurin-NFAT signaling cascade  regulation of catalytic activity  regulation of calcineurin-NFAT signaling cascade  
Ontology : EGO-EBIDNA binding  transcription factor activity, sequence-specific DNA binding  nucleus  cytoplasm  regulation of transcription, DNA-templated  signal transduction  central nervous system development  blood circulation  calcium-dependent protein serine/threonine phosphatase regulator activity  calcineurin-NFAT signaling cascade  regulation of catalytic activity  regulation of calcineurin-NFAT signaling cascade  
Pathways : KEGGThyroid hormone signaling pathway   
NDEx NetworkRCAN1
Atlas of Cancer Signalling NetworkRCAN1
Wikipedia pathwaysRCAN1
Orthology - Evolution
OrthoDB1827
GeneTree (enSembl)ENSG00000159200
Phylogenetic Trees/Animal Genes : TreeFamRCAN1
HOVERGENP53805
HOGENOMP53805
Homologs : HomoloGeneRCAN1
Homology/Alignments : Family Browser (UCSC)RCAN1
Gene fusions - Rearrangements
Fusion : MitelmanAPP/RCAN1 [21q21.3/21q22.12]  [t(21;21)(q21;q22)]  
Fusion : MitelmanRCAN1/GART [21q22.12/21q22.11]  [t(21;21)(q22;q22)]  
Fusion : MitelmanRCAN1/RUNX1 [21q22.12/21q22.12]  [t(21;21)(q22;q22)]  
Fusion : MitelmanSRP68/RCAN1 [17q25.1/21q22.12]  [t(17;21)(q25;q22)]  
Fusion : MitelmanTNPO3/RCAN1 [7q32.1/21q22.12]  [t(7;21)(q32;q22)]  
Fusion: TCGAAPP 21q21.3 RCAN1 21q22.12 BRCA
Fusion: TCGARCAN1 21q22.12 GART 21q22.11 BRCA
Fusion: TCGARCAN1 21q22.12 RUNX1 21q22.12 BRCA
Fusion: TCGASRP68 17q25.1 RCAN1 21q22.12 LUAD
Fusion: TCGATNPO3 7q32.1 RCAN1 21q22.12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRCAN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RCAN1
dbVarRCAN1
ClinVarRCAN1
1000_GenomesRCAN1 
Exome Variant ServerRCAN1
ExAC (Exome Aggregation Consortium)RCAN1 (select the gene name)
Genetic variants : HAPMAP1827
Genomic Variants (DGV)RCAN1 [DGVbeta]
DECIPHERRCAN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRCAN1 
Mutations
ICGC Data PortalRCAN1 
TCGA Data PortalRCAN1 
Broad Tumor PortalRCAN1
OASIS PortalRCAN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRCAN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRCAN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RCAN1
DgiDB (Drug Gene Interaction Database)RCAN1
DoCM (Curated mutations)RCAN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RCAN1 (select a term)
intoGenRCAN1
Cancer3DRCAN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602917   
Orphanet
MedgenRCAN1
Genetic Testing Registry RCAN1
NextProtP53805 [Medical]
TSGene1827
GENETestsRCAN1
Huge Navigator RCAN1 [HugePedia]
snp3D : Map Gene to Disease1827
BioCentury BCIQRCAN1
ClinGenRCAN1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1827
Chemical/Pharm GKB GenePA162400946
Clinical trialRCAN1
Miscellaneous
canSAR (ICR)RCAN1 (select the gene name)
Probes
Litterature
PubMed98 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRCAN1
EVEXRCAN1
GoPubMedRCAN1
iHOPRCAN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:34:34 CEST 2017

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