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RCAN2 (regulator of calcineurin 2)

Identity

Alias_namesDSCR1L1
Down syndrome critical region gene 1-like 1
Alias_symbol (synonym)ZAKI-4
Other aliasCSP2
MCIP2
RCN2
ZAKI4
HGNC (Hugo) RCAN2
LocusID (NCBI) 10231
Atlas_Id 40365
Location 6p12.3  [Link to chromosome band 6p12]
Location_base_pair Starts at 46220730 and ends at 46325892 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CDKAL1 (6p22.3) / RCAN2 (6p21.1)ETNK1 (12p12.1) / RCAN2 (6p21.1)FAF1 (1p32.3) / RCAN2 (6p21.1)
LMNA (1q22) / RCAN2 (6p21.1)PKHD1 (6p12.3) / RCAN2 (6p21.1)RCAN2 (6p21.1) / FAF1 (1p32.3)
RCAN2 (6p21.1) / RAPGEF4 (2q31.1)RNU5F-1 (1q41) / RCAN2 (6p21.1)TBX18 (6q14.3) / RCAN2 (6p21.1)
CDKAL1 6p22.3 / RCAN2 6p21.1ETNK1 12p12.1 / RCAN2 6p21.1PKHD1 6p12.3 / RCAN2 6p21.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  Lung: Translocations in Small Cell Carcinoma
t(2;6)(q31;p12) RCAN2/RAPGEF4
PKHD1/RCAN2 (6p12)
t(6;6)(p12;p22) CDKAL1/RCAN2
t(6;12)(p12;p12) ETNK1/RCAN2


External links

Nomenclature
HGNC (Hugo)RCAN2   3041
Cards
Entrez_Gene (NCBI)RCAN2  10231  regulator of calcineurin 2
AliasesCSP2; DSCR1L1; MCIP2; RCN2; 
ZAKI-4; ZAKI4
GeneCards (Weizmann)RCAN2
Ensembl hg19 (Hinxton)ENSG00000172348 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172348 [Gene_View]  ENSG00000172348 [Sequence]  chr6:46220730-46325892 [Contig_View]  RCAN2 [Vega]
ICGC DataPortalENSG00000172348
TCGA cBioPortalRCAN2
AceView (NCBI)RCAN2
Genatlas (Paris)RCAN2
WikiGenes10231
SOURCE (Princeton)RCAN2
Genetics Home Reference (NIH)RCAN2
Genomic and cartography
GoldenPath hg38 (UCSC)RCAN2  -     chr6:46220730-46325892 -  6p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RCAN2  -     6p12.3   [Description]    (hg19-Feb_2009)
EnsemblRCAN2 - 6p12.3 [CytoView hg19]  RCAN2 - 6p12.3 [CytoView hg38]
Mapping of homologs : NCBIRCAN2 [Mapview hg19]  RCAN2 [Mapview hg38]
OMIM604876   
Gene and transcription
Genbank (Entrez)AI813911 AK090990 AK312392 AY034085 AY034086
RefSeq transcript (Entrez)NM_001251973 NM_001251974 NM_005822
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RCAN2
Cluster EST : UnigeneHs.710016 [ NCBI ]
CGAP (NCI)Hs.710016
Alternative Splicing GalleryENSG00000172348
Gene ExpressionRCAN2 [ NCBI-GEO ]   RCAN2 [ EBI - ARRAY_EXPRESS ]   RCAN2 [ SEEK ]   RCAN2 [ MEM ]
Gene Expression Viewer (FireBrowse)RCAN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10231
GTEX Portal (Tissue expression)RCAN2
Human Protein AtlasENSG00000172348-RCAN2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14206   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14206  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14206
Splice isoforms : SwissVarQ14206
PhosPhoSitePlusQ14206
Domains : Interpro (EBI)Calcipressin    Nucleotide-bd_a/b_plait_sf    RBD_domain_sf    RCAN2    RCAN2_RRM   
Domain families : Pfam (Sanger)Calcipressin (PF04847)   
Domain families : Pfam (NCBI)pfam04847   
Conserved Domain (NCBI)RCAN2
DMDM Disease mutations10231
Blocks (Seattle)RCAN2
SuperfamilyQ14206
Human Protein Atlas [tissue]ENSG00000172348-RCAN2 [tissue]
Peptide AtlasQ14206
HPRD05342
IPIIPI00166041   IPI00029490   
Protein Interaction databases
DIP (DOE-UCLA)Q14206
IntAct (EBI)Q14206
FunCoupENSG00000172348
BioGRIDRCAN2
STRING (EMBL)RCAN2
ZODIACRCAN2
Ontologies - Pathways
QuickGOQ14206
Ontology : AmiGOnucleic acid binding  cellular_component  cytoplasm  calcium-dependent protein serine/threonine phosphatase regulator activity  calcium-mediated signaling  regulation of phosphoprotein phosphatase activity  regulation of calcineurin-NFAT signaling cascade  
Ontology : EGO-EBInucleic acid binding  cellular_component  cytoplasm  calcium-dependent protein serine/threonine phosphatase regulator activity  calcium-mediated signaling  regulation of phosphoprotein phosphatase activity  regulation of calcineurin-NFAT signaling cascade  
Pathways : KEGGThyroid hormone signaling pathway   
NDEx NetworkRCAN2
Atlas of Cancer Signalling NetworkRCAN2
Wikipedia pathwaysRCAN2
Orthology - Evolution
OrthoDB10231
GeneTree (enSembl)ENSG00000172348
Phylogenetic Trees/Animal Genes : TreeFamRCAN2
HOVERGENQ14206
HOGENOMQ14206
Homologs : HomoloGeneRCAN2
Homology/Alignments : Family Browser (UCSC)RCAN2
Gene fusions - Rearrangements
Fusion : MitelmanCDKAL1/RCAN2 [6p22.3/6p21.1]  [t(6;6)(p12;p22)]  
Fusion : MitelmanETNK1/RCAN2 [12p12.1/6p21.1]  [t(6;12)(p12;p12)]  
Fusion : MitelmanPKHD1/RCAN2 [6p12.3/6p21.1]  [t(6;6)(p12;p12)]  
Fusion : MitelmanRCAN2/RAPGEF4 [6p21.1/2q31.1]  [t(2;6)(q31;p12)]  
Fusion PortalCDKAL1 6p22.3 RCAN2 6p21.1 BLCA
Fusion PortalETNK1 12p12.1 RCAN2 6p21.1 BRCA
Fusion PortalPKHD1 6p12.3 RCAN2 6p21.1 KIRC
Fusion : QuiverRCAN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRCAN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RCAN2
dbVarRCAN2
ClinVarRCAN2
1000_GenomesRCAN2 
Exome Variant ServerRCAN2
ExAC (Exome Aggregation Consortium)ENSG00000172348
GNOMAD BrowserENSG00000172348
Varsome BrowserRCAN2
Genetic variants : HAPMAP10231
Genomic Variants (DGV)RCAN2 [DGVbeta]
DECIPHERRCAN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRCAN2 
Mutations
ICGC Data PortalRCAN2 
TCGA Data PortalRCAN2 
Broad Tumor PortalRCAN2
OASIS PortalRCAN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRCAN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRCAN2
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 RCAN2
DgiDB (Drug Gene Interaction Database)RCAN2
DoCM (Curated mutations)RCAN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RCAN2 (select a term)
intoGenRCAN2
Cancer3DRCAN2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604876   
Orphanet
DisGeNETRCAN2
MedgenRCAN2
Genetic Testing Registry RCAN2
NextProtQ14206 [Medical]
TSGene10231
GENETestsRCAN2
Target ValidationRCAN2
Huge Navigator RCAN2 [HugePedia]
snp3D : Map Gene to Disease10231
BioCentury BCIQRCAN2
ClinGenRCAN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10231
Chemical/Pharm GKB GenePA162400959
Clinical trialRCAN2
Miscellaneous
canSAR (ICR)RCAN2 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRCAN2
EVEXRCAN2
GoPubMedRCAN2
iHOPRCAN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:35:00 CET 2018

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