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

Gene ID: 10231, updated on 13-Mar-2020

Summary

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
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

Genomic context

See RCAN2 in Genome Data Viewer
Location:
6p12.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (46220730..46492067, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (46188467..46459804, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes 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 ribosomal protein L36 pseudogene 10 Neighboring gene uncharacterized LOC101926898 Neighboring gene cytochrome P450 family 39 subfamily A member 1 Neighboring gene uncharacterized LOC101926934 Neighboring gene solute carrier family 25 member 27

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium-dependent protein serine/threonine phosphatase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
regulation of calcineurin-NFAT signaling cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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
    5745..276338
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001251973.1NP_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)
    AI813911, AK090990, AY034085, BP264912, BU069906, DA409014, DB289594
    Consensus CDS
    CCDS59023.1
    UniProtKB/Swiss-Prot
    Q14206
    Related
    ENSP00000305223.7, ENST00000306764.11
    Conserved Domains (1) summary
    pfam04847
    Location:68236
    Calcipressin; Calcipressin
  2. NM_001251974.1NP_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)
    AI813911, AK090990, BP264912, BU069906, DA113879
    Consensus CDS
    CCDS59023.1
    UniProtKB/Swiss-Prot
    Q14206
    Related
    ENSP00000360425.1, ENST00000371374.5
    Conserved Domains (1) summary
    pfam04847
    Location:68236
    Calcipressin; Calcipressin
  3. NM_005822.3NP_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)
    AI813911, AK090990, AK312392, BP264912, BU069906, DA106611
    Consensus CDS
    CCDS43469.1
    UniProtKB/Swiss-Prot
    Q14206
    UniProtKB/TrEMBL
    B2R612
    Related
    ENSP00000329454.6, ENST00000330430.10
    Conserved Domains (1) summary
    pfam04847
    Location:22190
    Calcipressin; Calcipressin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    46220730..46492067 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam04847
    Location:68236
    Calcipressin; Calcipressin
  2. XM_011514226.1XP_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:68236
    Calcipressin; Calcipressin
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