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RCAN2 Gene

protein-coding   GIFtS: 57
GCID: GC06M046188

Regulator Of Calcineurin 2

(Previous name: Down syndrome critical region gene 1-like 1)
(Previous symbol: DSCR1L1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Regulator Of Calcineurin 21 2 3     Down Syndrome Candidate Region 1-Like 12 3
DSCR1L11 2 3 5     CSP22 5
MCIP22 3 5     RCN22
ZAKI42 3 5     ZAKI-42
Down Syndrome Critical Region Gene 1-Like 11 2     calcipressin-22
Myocyte-Enriched Calcineurin-Interacting Protein 22 3     Thyroid Hormone-Responsive (Skin Fibroblasts)2
Thyroid Hormone-Responsive Protein ZAKI-42 3     

External Ids:    HGNC: 30411   Entrez Gene: 102312   Ensembl: ENSG000001723487   OMIM: 6048765   UniProtKB: Q142063   

Export aliases for RCAN2 gene to outside databases

Previous GC identifers: GC06M046297 GC06M045911


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RCAN2 Gene:
This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in
many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated
nuclear translocation of the transcription factor NFATC1. Expression of this gene in skin fibroblasts is
upregulated by thyroid hormone, and the encoded protein may also play a role in endothelial cell function and
angiogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this
gene. (provided by RefSeq, Oct 2011)

GeneCards Summary for RCAN2 Gene:
RCAN2 (regulator of calcineurin 2) is a protein-coding gene. Diseases associated with RCAN2 include down syndrome, and thyroiditis. GO annotations related to this gene include nucleotide binding and protein phosphatase 2B binding. An important paralog of this gene is RCAN1.

UniProtKB/Swiss-Prot: RCAN2_HUMAN, Q14206
Function: Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of
calcineurin A. Could play a role during central nervous system development

Gene Wiki entry for RCAN2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RCAN2 gene promoter:
         AML1a   Evi-1   YY1   NF-AT   NF-AT4   POU2F1   NF-AT2   POU2F1b   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRCAN2 promoter sequence
   Search Chromatin IP Primers for RCAN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RCAN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p12.3   Ensembl cytogenetic band:  6p12.3   HGNC cytogenetic band: 6p12.3

RCAN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RCAN2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M046188:  view genomic region     (about GC identifiers)

Start:
46,188,469 bp from pter      End:
46,459,709 bp from pter
Size:
271,241 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RCAN2_HUMAN, Q14206 (See protein sequence)
Recommended Name: Calcipressin-2  
Size: 197 amino acids; 21997 Da
Sequence caution: Sequence=BAA11911.1; Type=Erroneous initiation;
Secondary accessions: A6ND07 B3KR46 Q5VWF7 Q5VWF8 Q8N116
Alternative splicing: 2 isoforms:  Q14206-1   Q14206-2   

Explore the universe of human proteins at neXtProt for RCAN2: NX_Q14206

Explore proteomics data for RCAN2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RCAN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001238902.1  NP_001238903.1  NP_005813.2  

    ENSEMBL proteins: 
     ENSP00000329454   ENSP00000360425   ENSP00000305223   ENSP00000384317  

    RCAN2 Human Recombinant Protein Products:

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    Novus Biologicals RCAN2 Proteins
    Novus Biologicals RCAN2 Lysates
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    ProSpec Recombinant Protein for RCAN2
    Cloud-Clone Corp. Proteins for RCAN2

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    Cloud-Clone Corp. CLIAs for RCAN2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR006931 Calcipressin
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry Q14206

    ProtoNet protein and cluster: Q14206

    1 Blocks protein domain: IPB006931 Calcipressin

    UniProtKB/Swiss-Prot: RCAN2_HUMAN, Q14206
    Similarity: Belongs to the RCAN family


    RCAN2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RCAN2_HUMAN, Q14206
    Function: Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of
    calcineurin A. Could play a role during central nervous system development
    Induction: By thyroid hormone

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0030346protein phosphatase 2B binding ----
         
    RCAN2 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for RCAN2:
     Decreased viability with carbo  Decreased viability with pacli  Increased G1 DNA content  Synthetic lethal with imatinib 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rcan2):
     adipose tissue  behavior/neurological  cardiovascular system  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  limbs/digits/tail  liver/biliary system  skeleton 

    RCAN2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rcan2tm1Jmol for RCAN2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RCAN2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RCAN2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RCAN2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RCAN2

    miRNA
    Products:
        
    miRTarBase miRNAs that target RCAN2:
    hsa-mir-26b-5p (MIRT029831), hsa-mir-100-5p (MIRT048556), hsa-mir-375 (MIRT019940), hsa-mir-183-5p (MIRT025032), hsa-mir-155-5p (MIRT001507), hsa-mir-99a-5p (MIRT048612)

    Block miRNA regulation of human, mouse, rat RCAN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RCAN2 (see all 50):
    hsa-miR-3678-3p hsa-miR-3685 hsa-miR-300 hsa-miR-513a-5p hsa-miR-128 hsa-miR-371-5p hsa-miR-9 hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidRCAN2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RCAN2
    Predesigned siRNA for gene silencing in human, mouse, rat RCAN2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for RCAN2 (see all 7)
    OriGene ORF clones in mouse, rat for RCAN2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RCAN2 (NM_005822)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RCAN2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RCAN2

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    Browse ESI BIO Cell Lines and PureStem Progenitors for RCAN2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RCAN2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    RCAN2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RCAN2 About    
    See pathways by source

    SuperPathContained pathways About
    1Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    Calcium signaling in the CD4+ TCR pathway0.38
    2Thyroid hormone signaling pathway
    Thyroid hormone signaling pathway
    3Role of Calcineurin-dependent NFAT signaling in lymphocytes
    Role of Calcineurin-dependent NFAT signaling in lymphocytes

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RCAN2
        NFAT and Cardiac Hypertrophy
    NFAT in Immune Response

    2 BioSystems Pathways for RCAN2
        Calcium signaling in the CD4+ TCR pathway
    Role of Calcineurin-dependent NFAT signaling in lymphocytes


    1 Kegg Pathway  (Kegg details for RCAN2):
        Thyroid hormone signaling pathway


    RCAN2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RCAN2
    Interactions:

        Search GeneGlobe Interaction Network for RCAN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for RCAN2 (Q142063 ENSP000003294544) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP3CAQ082093, ENSP000003783234I2D: score=2 STRING: ENSP00000378323
    PPP3R1P630983, ENSP000002343104I2D: score=1 STRING: ENSP00000234310
    PPP3R2ENSP000003639394STRING: ENSP00000363939
    BYSLENSP000002303404STRING: ENSP00000230340
    TCEB1ENSP000002848114STRING: ENSP00000284811
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007417central nervous system development ----
    GO:0019722calcium-mediated signaling IEA--

    RCAN2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RCAN2

    1 Novoseek inferred chemical compound relationship for RCAN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 1 16516408 (1)



    RCAN2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RCAN2 gene (3 alternative transcripts): 
    NM_001251973.1  NM_001251974.1  NM_005822.3  

    Unigene Cluster for RCAN2:

    Regulator of calcineurin 2
    Hs.440168  [show with all ESTs]
    Unigene Representative Sequence: NM_005822
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330430(uc003oyb.2) ENST00000371374(uc003oyc.2) ENST00000306764(uc003oyd.2)
    ENST00000405162

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RCAN2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RCAN2 (see all 50):
    hsa-miR-3678-3p hsa-miR-3685 hsa-miR-300 hsa-miR-513a-5p hsa-miR-128 hsa-miR-371-5p hsa-miR-9 hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidRCAN2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RCAN2
    Predesigned siRNA for gene silencing in human, mouse, rat RCAN2
    Clone
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    OriGene ORF clones in mouse, rat for RCAN2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RCAN2 (NM_005822)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RCAN2
    Primer
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    OriGene qPCR primer pairs and template standards for RCAN2
    OriGene qSTAR qPCR primer pairs in human, mouse for RCAN2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RCAN2
      QuantiTect SYBR Green Assays in human, mouse, rat RCAN2
      QuantiFast Probe-based Assays in human, mouse, rat RCAN2

    Additional mRNA sequence: 

    AK090990.1 AK312392.1 AY034085.1 AY034086.1 BC038509.1 D83407.1 

    9 DOTS entries:

    DT.100024714  DT.115045  DT.100024715  DT.100754275  DT.100754281  DT.121382915  DT.99977990  DT.100753721 
    DT.100754279 

    Selected AceView cDNA sequences (see all 148):

    BM994419 BM725011 AI923483 C04976 AI816815 BM992373 AI419039 AW957141 
    BE328564 BF942102 T09144 AK090990 AI421497 AI306418 CR604948 AX746721 
    AI362212 AA365104 AL119703 CA848451 AI090148 BM680229 BQ427405 H21189 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RCAN2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACGCACATTA
    RCAN2 Expression
    About this image


    RCAN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 24 entries
             Adult Endothelial Cells Blood Brain Barrier
             Thalamus
             Substantia Nigra   
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Neural Crest (Gastrulation Derivatives)
             PureStem MEL2, NCr-fac Progenitor
     
     Gall Bladder (Hepatobiliary System)
    RCAN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RCAN2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.440168

    UniProtKB/Swiss-Prot: RCAN2_HUMAN, Q14206
    Tissue specificity: Expressed in fibroblasts, heart, brain, liver, and skeletal muscle but not in placenta, lung,
    kidney and pancreas

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    QuantiFast Probe-based Assays in human, mouse, rat RCAN2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RCAN2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RCAN2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rcan21 , 5 regulator of calcineurin 21, 5 87.79(n)1
    93.42(a)1
      17 (19.77 cM)5
    539011  NM_207649.11  NP_997532.11 
     438018515 
    chicken
    (Gallus gallus)
    Aves RCAN21 regulator of calcineurin 2 80.11(n)
    83.95(a)
      422057  XM_004935922.1  XP_004935979.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.41332 Transcribed sequence with moderate similarity to protein more 79.32(n)    AL892763.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.128292 Transcribed sequence with moderate similarity to protein more 77.03(n)    CD284162.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sra1 sarah 53.75(n)
    47.19(a)
      47384  NM_079654.2  NP_524378.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rcn-16
    Protein RCN-1 (rcn-1) mRNA, complete cds
    29(a)
    1 → many
    III(5682346-5684098) WBGene00004321


    ENSEMBL Gene Tree for RCAN2 (if available)
    TreeFam Gene Tree for RCAN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RCAN2 gene
    RCAN12  RCAN32  
    3 SIMAP similar genes for RCAN2 using alignment to 3 protein entries:     RCAN2_HUMAN (see all proteins):
    DSCR1    RCAN3    RCAN1

    RCAN2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RCAN2 (see all 5017)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1498161721,2
    --45911118(+) ACAGAA/GGCTCT 3 -- ds50010--------
    rs624008671,2
    C--45911120(+) AGAAGC/TTCTTC 3 -- ds50013Minor allele frequency- T:0.06NA EA 242
    rs1457794681,2
    --45911184(+) CTGAAC/TAATAA 3 -- ds50010--------
    rs25840721,2
    C,F,O,A,H--45911215(-) GCACTA/GTAAGA 3 -- ds500123Minor allele frequency- G:0.39NA NS EA WA CSA 2475
    rs1814658761,2
    --45911359(+) CCTGCC/TCTCCA 3 -- ds50010--------
    rs1405929661,2
    C--45911446(+) TATGGA/GTTAAC 3 -- ds50010--------
    rs1456599041,2
    --45911458(+) CCATAC/TGTTGG 3 -- ds50010--------
    rs1382222491,2
    --45911584(+) CAGATA/GTATTT 3 -- ut310--------
    rs1848521161,2
    --45911616(+) ATACAC/TGTGCA 3 -- ut310--------
    rs1900256881,2
    --45911674(+) AGTTTG/TCAAAC 3 -- ut310--------

    HapMap Linkage Disequilibrium report for RCAN2 (46188469 - 46438469 bp, first 250kb of RCAN2)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RCAN2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659487CNV Deletion23128226
    esv270581CNV Insertion20981092
    nsv830653CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604876    OMIM disorders: --

    7 diseases for RCAN2:    
    About MalaCards
    down syndrome    thyroiditis    endometrial adenocarcinoma    endotheliitis
    hypothyroidism    adenocarcinoma    cerebritis

    1 disease from the University of Copenhagen DISEASES database for RCAN2:
    Down syndrome

    RCAN2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for RCAN2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    down syndrome 65.5 4 10756093 (1), 10722714 (1), 11080588 (1), 16516408 (1)

    Genetic Association Database (GAD): RCAN2
    Human Genome Epidemiology (HuGE) Navigator: RCAN2 (1 document)

    Export disorders for RCAN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RCAN2 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with RCAN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a novel thyroid hormone-responsive gene, ZAKI-4, in human skin fibroblasts. (PubMed id 8662924)1, 2, 3, 9 Miyazaki T.... Seo H. (J. Biol. Chem. 1996)
    2. Novel human ZAKI-4 isoforms: hormonal and tissue-specific regulation and function as calcineurin inhibitors. (PubMed id 12102656)1, 2, 9 Cao X.... Seo H. (Biochem. J. 2002)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. A new gene family including DSCR1 (Down syndrome candidate region 1) and ZAKI-4: characterization from yeast to human and identification of DSCR1-like 2, a novel human member (DSCR1L2). (PubMed id 10756093)1, 9 Strippoli P.... Zannotti M. (Genomics 2000)
    6. DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways. (PubMed id 10861295)1, 9 Fuentes J.J.... de la Luna S. (Hum. Mol. Genet. 2000)
    7. A protein encoded within the Down syndrome critical region is enriched in striated muscles and inhibits calcineurin signaling. (PubMed id 10722714)1, 9 Rothermel B....Williams R.S. (J. Biol. Chem. 2000)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Prostaglandin F(2alpha)-F-prostanoid receptor regulates CXCL8 expression in endometrial adenocarcinoma cells via the calcium-calcineurin-NFAT pathway. (PubMed id 19819266)1 Sales K.J....Jabbour H.N. (Biochim. Biophys. Acta 2009)
    10. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PubMed id 17903297)4 Seshadri S....Wolf P.A. (BMC Med. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10231 HGNC: 3041 AceView: DSCR1L1 Ensembl:ENSG00000172348 euGenes: HUgn10231
    ECgene: RCAN2 Kegg: 10231 H-InvDB: RCAN2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RCAN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RCAN2 gene:
    Search GeneIP for patents involving RCAN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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