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    RCAN2 regulator of calcineurin 2 [ Homo sapiens (human) ]

    Gene ID: 10231, updated on 14-Nov-2024

    Summary

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    Official Symbol
    RCAN2provided by HGNC
    Official Full Name
    regulator of calcineurin 2provided by HGNC
    Primary source
    HGNC:HGNC:3041
    See related
    Ensembl:ENSG00000172348 MIM:604876; AllianceGenome:HGNC:3041
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CSP2; RCN2; MCIP2; ZAKI4; ZAKI-4; DSCR1L1
    Summary
    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]
    Expression
    Broad expression in heart (RPKM 64.4), brain (RPKM 36.0) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RCAN2 in Genome Data Viewer
    Location:
    6p12.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (46220736..46491970, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (46055860..46329613, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (46188473..46459707, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17269 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase family member 5 Neighboring gene uncharacterized LOC105375079 Neighboring gene actin gamma 1 pseudogene 9 Neighboring gene uncharacterized LOC101926915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24651 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:46373192-46373692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:46426711-46427211 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:46426210-46426710 Neighboring gene ribosomal protein L36 pseudogene 10 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:46455408-46456020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17271 Neighboring gene RCAN2 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:46542802-46543302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:46543303-46543803 Neighboring gene cytochrome P450 family 39 subfamily A member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17272

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMB Signature-Related RCAN2 Promotes Apoptosis by Upregulating EHF/DR5 Pathway in Hepatocellular Carcinoma.
      Title: TMB Signature-Related RCAN2 Promotes Apoptosis by Upregulating EHF/DR5 Pathway in Hepatocellular Carcinoma.
    2. USP7-mediated JUND suppresses RCAN2 transcription and elevates NFATC1 to enhance stem cell property in colorectal cancer.
      Title: USP7-mediated JUND suppresses RCAN2 transcription and elevates NFATC1 to enhance stem cell property in colorectal cancer.
    3. CircIQGAP1 regulates RCAN1 and RCAN2 through the mechanism of ceRNA and promotes the growth of malignant glioma.
      Title: CircIQGAP1 regulates RCAN1 and RCAN2 through the mechanism of ceRNA and promotes the growth of malignant glioma.
    4. Association Between Circulating Regulator of Calcineurin 2 Concentrations With Overweight and Obesity.
      Title: Association Between Circulating Regulator of Calcineurin 2 Concentrations With Overweight and Obesity.
    5. A novel transcriptional complex on the VE-cadherin promoter regulated the downregulation of VE-cadherin in the Down Syndrome Candidate Region 1 isoform 1L-mediated angiogenesis.
      Title: A novel transcriptional complex on the VE-cadherin promoter regulated the downregulation of VE-cadherin in the Down Syndrome Candidate Region 1 isoform 1L-mediated angiogenesis.
    6. YAP1, TEF3 and DSCR1-1L is a common signaling pathway downstream of several angiogenic factors that regulates angiogenesis.
      Title: The novel axis of YAP1, transcription enhancer factor 3 and Down Syndrome Candidate Region 1 isoform 1L is a common signaling pathway downstream of several angiogenic factors.
    7. Data define RCAN2 as a regulator of cilia function that can compensate for the loss of giantin function.
      Title: Regulator of calcineurin-2 is a centriolar protein with a role in cilia length control.
    8. These results suggest that RCAN2 is involved in tumour progression and is an independent prognostic classifier in patients with gastric cancer
      Title: Clinicopathological significance of RCAN2 production in gastric carcinoma.
    9. RCAN2 expression is upregulated in human masticatory mucosa during wound healing
      Title: Human gingiva transcriptome during wound healing.
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium-dependent protein serine/threonine phosphatase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in calcium-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    calcipressin-2
    Names
    Down syndrome candidate region 1-like 1
    Down syndrome critical region gene 1-like 1
    myocyte-enriched calcineurin-interacting protein 2
    thyroid hormone-responsive (skin fibroblasts)
    thyroid hormone-responsive protein ZAKI-4

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030437.1 RefSeqGene

      Range
      5619..276332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001251973.2 → NP_001238902.1  calcipressin-2 isoform 2

      See identical proteins and their annotated locations for NP_001238902.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as beta-2) differs in the 5' UTR and uses an alternate start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2, also known as beta), which is longer and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK090990, AY034085, BP264912, BU069906, DA409014
      Consensus CDS
      CCDS59023.1
      UniProtKB/Swiss-Prot
      Q14206
      Related
      ENSP00000305223.7, ENST00000306764.11
      Conserved Domains (1) summary
      pfam04847
      Location:68 → 236
      Calcipressin

    2. NM_001251974.2 → NP_001238903.1  calcipressin-2 isoform 2

      See identical proteins and their annotated locations for NP_001238903.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as beta-1) differs in the 5' UTR and uses an alternate start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (2, also known as beta), which is longer and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK090990, AL359633, BP264912, BU069906, DA113879
      Consensus CDS
      CCDS59023.1
      UniProtKB/Swiss-Prot
      Q14206
      Related
      ENSP00000360425.1, ENST00000371374.6
      Conserved Domains (1) summary
      pfam04847
      Location:68 → 236
      Calcipressin

    3. NM_005822.4 → NP_005813.2  calcipressin-2 isoform 1

      See identical proteins and their annotated locations for NP_005813.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as alpha) represents the longest transcript and encodes the shorter isoform (1, also known as alpha).
      Source sequence(s)
      AK090990, AK312392, BP264912, BU069906, DA106611
      Consensus CDS
      CCDS43469.1
      UniProtKB/Swiss-Prot
      A6ND07, B3KR46, Q14206, Q5VWF7, Q5VWF8, Q8N116
      UniProtKB/TrEMBL
      Q86YJ0
      Related
      ENSP00000329454.6, ENST00000330430.10
      Conserved Domains (1) summary
      pfam04847
      Location:22 → 190
      Calcipressin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      46220736..46491970 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446301.2 → XP_024302069.1  calcipressin-2 isoform X1

      Conserved Domains (1) summary
      pfam04847
      Location:68 → 236
      Calcipressin

    2. XM_011514226.2 → XP_011512528.1  calcipressin-2 isoform X1

      See identical proteins and their annotated locations for XP_011512528.1

      UniProtKB/Swiss-Prot
      Q14206
      Conserved Domains (1) summary
      pfam04847
      Location:68 → 236
      Calcipressin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      46055860..46329613 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354008.1 → XP_054209983.1  calcipressin-2 isoform X1

    2. XM_054354007.1 → XP_054209982.1  calcipressin-2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14206.3 GenPept UniProtKB/Swiss-Prot:Q14206

    Gene LinkOut

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