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Aliases for RCAN3 Gene

Aliases for RCAN3 Gene

  • RCAN Family Member 3 2 3 5
  • Myocyte-Enriched Calcineurin-Interacting Protein 3 3 4
  • Down Syndrome Candidate Region 1-Like Protein 2 3 4
  • Down Syndrome Critical Region Gene 1-Like 2 2 3
  • DSCR1L2 3 4
  • MCIP3 3 4
  • Down Syndrome Candidate Region 1-Like 2 3
  • Regulator Of Calcineurin 3 Isoform 1b,2 3
  • Regulator Of Calcineurin 3 4
  • Calcipressin-3 3
  • HRCN3 3
  • RCN3 3

External Ids for RCAN3 Gene

Previous HGNC Symbols for RCAN3 Gene

  • DSCR1L2

Previous GeneCards Identifiers for RCAN3 Gene

  • GC01P024702
  • GC01P024829
  • GC01P023084

Summaries for RCAN3 Gene

GeneCards Summary for RCAN3 Gene

RCAN3 (RCAN Family Member 3) is a Protein Coding gene. Diseases associated with RCAN3 include Down Syndrome. Among its related pathways are NFAT and Cardiac Hypertrophy and GPCR Pathway. GO annotations related to this gene include RNA binding and calcium-dependent protein serine/threonine phosphatase regulator activity. An important paralog of this gene is RCAN2.

UniProtKB/Swiss-Prot for RCAN3 Gene

  • Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development (By similarity).

Gene Wiki entry for RCAN3 Gene

Additional gene information for RCAN3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RCAN3 Gene

Genomics for RCAN3 Gene

Regulatory Elements for RCAN3 Gene

Enhancers for RCAN3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H024506 1.6 FANTOM5 Ensembl ENCODE dbSUPER 32.4 +5.5 5474 2 HDAC1 PKNOX1 FOXA2 ETV1 ZNF121 SCRT2 NFE2 SCRT1 SOX6 RNF2 RCAN3 NCMAP NIPAL3 RUNX3 SRRM1 RCAN3AS GC01M024529
GH01H024480 1.5 FANTOM5 Ensembl ENCODE dbSUPER 24.9 -19.8 -19825 3 PKNOX1 NFRKB NR2F1 ELF1 EED IKZF1 ETV6 ATF7 RUNX3 IKZF2 RCAN3 NIPAL3 RUNX3 SRRM1 GC01P024476
GH01H024534 1.4 Ensembl ENCODE dbSUPER 18.9 +34.2 34197 3 PKNOX1 ATF1 BATF EGR1 SCRT2 ATF7 ETV6 RUNX3 IKZF2 CREM RCAN3 NIPAL3 STPG1 TMEM50A GC01P024538 GC01P024539 GC01M024529
GH01H024908 2 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +417.4 417400 22 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 YBX1 CBX5 RUNX3 RCAN3 SRSF10 ENSG00000231953 RNU6-1208P RSRP1 ENSG00000225643 ENSG00000261349 SRRM1 SYF2
GH01H024414 1.6 Ensembl ENCODE dbSUPER 10.8 -85.1 -85081 5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 ZNF143 SRRM1 SRSF10 STPG1 NIPAL3 ELOA RCAN3 SYF2 NCMAP ENSG00000261349 GC01P024477
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RCAN3 on UCSC Golden Path with GeneCards custom track

Promoters for RCAN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000003207 749 2201 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF121 GLIS2 ELK1 SP3

Genomic Location for RCAN3 Gene

Chromosome:
1
Start:
24,502,351 bp from pter
End:
24,541,040 bp from pter
Size:
38,690 bases
Orientation:
Plus strand

Genomic View for RCAN3 Gene

Genes around RCAN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RCAN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RCAN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCAN3 Gene

Proteins for RCAN3 Gene

  • Protein details for RCAN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKA8-RCAN3_HUMAN
    Recommended name:
    Calcipressin-3
    Protein Accession:
    Q9UKA8
    Secondary Accessions:
    • A4GU14
    • A4LA69
    • E3VWE2
    • E5L4P0
    • E5L4P7
    • E7ENV1
    • E7EWD8
    • G1FI66
    • G1FLF0
    • Q5ECL3
    • Q5TGC6
    • Q9NUC8
    • Q9UKA7

    Protein attributes for RCAN3 Gene

    Size:
    241 amino acids
    Molecular mass:
    27492 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RCAN3 Gene

neXtProt entry for RCAN3 Gene

Post-translational modifications for RCAN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RCAN3 Gene

Domains & Families for RCAN3 Gene

Gene Families for RCAN3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RCAN3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9UKA8

UniProtKB/Swiss-Prot:

RCAN3_HUMAN :
  • Belongs to the RCAN family.
Family:
  • Belongs to the RCAN family.
genes like me logo Genes that share domains with RCAN3: view

Function for RCAN3 Gene

Molecular function for RCAN3 Gene

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

Gene Ontology (GO) - Molecular Function for RCAN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS 10756093
GO:0005515 protein binding IPI 25814554
GO:0008597 calcium-dependent protein serine/threonine phosphatase regulator activity IBA --
GO:0031013 troponin I binding IPI 16516408
genes like me logo Genes that share ontologies with RCAN3: view
genes like me logo Genes that share phenotypes with RCAN3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RCAN3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RCAN3 Gene

Localization for RCAN3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RCAN3 gene
Compartment Confidence
nucleus 3
cytosol 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RCAN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with RCAN3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RCAN3 Gene

Pathways & Interactions for RCAN3 Gene

genes like me logo Genes that share pathways with RCAN3: view

Pathways by source for RCAN3 Gene

2 Qiagen pathways for RCAN3 Gene

Gene Ontology (GO) - Biological Process for RCAN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009653 anatomical structure morphogenesis TAS 10756093
GO:0019722 calcium-mediated signaling IEA --
GO:0050790 regulation of catalytic activity IEA --
GO:0070884 regulation of calcineurin-NFAT signaling cascade IBA --
genes like me logo Genes that share ontologies with RCAN3: view

No data available for SIGNOR curated interactions for RCAN3 Gene

Drugs & Compounds for RCAN3 Gene

No Compound Related Data Available

Transcripts for RCAN3 Gene

Unigene Clusters for RCAN3 Gene

RCAN family member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RCAN3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RCAN3 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b
SP1: -
SP2: -
SP3: - - - - -
SP4: - - -
SP5: - -
SP6:
SP7: - - - -
SP8:

Relevant External Links for RCAN3 Gene

GeneLoc Exon Structure for
RCAN3
ECgene alternative splicing isoforms for
RCAN3

Expression for RCAN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RCAN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RCAN3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.8).

Protein differential expression in normal tissues from HIPED for RCAN3 Gene

This gene is overexpressed in CD4 Tcells (21.6), Lymph node (18.1), Peripheral blood mononuclear cells (14.9), CD8 Tcells (8.2), and Fetal Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RCAN3 Gene



Protein tissue co-expression partners for RCAN3 Gene

NURSA nuclear receptor signaling pathways regulating expression of RCAN3 Gene:

RCAN3

SOURCE GeneReport for Unigene cluster for RCAN3 Gene:

Hs.656799

mRNA Expression by UniProt/SwissProt for RCAN3 Gene:

Q9UKA8-RCAN3_HUMAN
Tissue specificity: Highest expression in heart, skeletal muscle kidney, liver and peripheral blood leukocytes. Lower expression in all other tissues.

Evidence on tissue expression from TISSUES for RCAN3 Gene

  • Nervous system(4.4)
  • Heart(4.3)
  • Lung(4.3)
  • Blood(4.1)
  • Muscle(4)
genes like me logo Genes that share expression patterns with RCAN3: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RCAN3 Gene

Orthologs for RCAN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for RCAN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RCAN3 33 34
  • 99.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RCAN3 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RCAN3 33 34
  • 90.04 (n)
cow
(Bos Taurus)
Mammalia RCAN3 33 34
  • 89.21 (n)
oppossum
(Monodelphis domestica)
Mammalia RCAN3 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rcan3 33 16 34
  • 80.89 (n)
rat
(Rattus norvegicus)
Mammalia Rcan3 33
  • 80.89 (n)
chicken
(Gallus gallus)
Aves RCAN3 33 34
  • 79.53 (n)
lizard
(Anolis carolinensis)
Reptilia RCAN3 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rcan3 33
  • 76.62 (n)
zebrafish
(Danio rerio)
Actinopterygii rcan3 33 34
  • 68.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta sra 34
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rcn-1 33 34
  • 55.63 (n)
Species where no ortholog for RCAN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RCAN3 Gene

ENSEMBL:
Gene Tree for RCAN3 (if available)
TreeFam:
Gene Tree for RCAN3 (if available)

Paralogs for RCAN3 Gene

Paralogs for RCAN3 Gene

(3) SIMAP similar genes for RCAN3 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with RCAN3: view

Variants for RCAN3 Gene

Sequence variations from dbSNP and Humsavar for RCAN3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000002780 -- 24,511,786(+) TTTGG(A/G)AAAAA intron-variant
rs1000045990 -- 24,508,925(+) GGAGG(C/T)TGAGG intron-variant
rs1000149341 -- 24,515,535(+) AATAG(C/G)TCTGC intron-variant
rs1000289074 -- 24,521,861(+) ACAAA(C/T)AAAAA intron-variant
rs1000345478 -- 24,528,599(+) CCTTT(A/T)TCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RCAN3 Gene

Variant ID Type Subtype PubMed ID
esv3585504 CNV loss 21293372
nsv1140258 OTHER inversion 24896259
nsv1143442 CNV deletion 24896259
nsv472981 CNV novel sequence insertion 20440878

Variation tolerance for RCAN3 Gene

Residual Variation Intolerance Score: 72.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.42; 42.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RCAN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCAN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RCAN3 Gene

Disorders for RCAN3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RCAN3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • leukemia, megakaryoblastic, with or without down syndrome, somatic
- elite association - COSMIC cancer census association via MalaCards
Search RCAN3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RCAN3

Genetic Association Database (GAD)
RCAN3
Human Genome Epidemiology (HuGE) Navigator
RCAN3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RCAN3
genes like me logo Genes that share disorders with RCAN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RCAN3 Gene

Publications for RCAN3 Gene

  1. 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). (PMID: 10756093) Strippoli P … Zannotti M (Genomics 2000) 2 3 4 22 60
  2. Proteins encoded by human Down syndrome critical region gene 1-like 2 (DSCR1L2) mRNA and by a novel DSCR1L2 mRNA isoform interact with cardiac troponin I (TNNI3). (PMID: 16516408) Canaider S … Strippoli P (Gene 2006) 3 4 22 60
  3. Complexity of bidirectional transcription and alternative splicing at human RCAN3 locus. (PMID: 21961037) Facchin F … Canaider S (PloS one 2011) 3 4 60
  4. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PMID: 19074885) Enjuanes A … Campo E (Cancer research 2008) 3 45 60
  5. Identification and analysis of human RCAN3 (DSCR1L2) mRNA and protein isoforms. (PMID: 18022329) Facchin F … Strippoli P (Gene 2008) 3 4 60

Products for RCAN3 Gene

Sources for RCAN3 Gene

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