RCAN3

RCAN3
Identifiers
Aliases	RCAN3 , DSCR1L2, MCIP3, RCN3, hRCN3, RCAN family member 3
External IDs	OMIM: 605860; MGI: 1858220; HomoloGene: 8388; GeneCards: RCAN3; OMA:RCAN3 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p36.11 Start 24,502,351 bp [1] End 24,541,040 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4 D3|4 67.59 cM Start 135,139,619 bp [2] End 135,161,164 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell epithelium of nasopharynx sperm cerebellar vermis skin of thigh gingival epithelium corpus epididymis skin of hip parotid gland oral cavity Top expressed in zygote secondary oocyte islet of Langerhans ventral tegmental area vestibular membrane of cochlear duct dorsal tegmental nucleus primary oocyte dorsomedial hypothalamic nucleus central gray substance of midbrain neural layer of retina More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding troponin I binding calcium-dependent protein serine/threonine phosphatase regulator activity RNA binding nucleic acid binding phosphatase binding Cellular component cytoplasm Biological process regulation of calcineurin-NFAT signaling cascade anatomical structure morphogenesis calcium-mediated signaling regulation of phosphoprotein phosphatase activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11123 53902 Ensembl ENSG00000117602 ENSMUSG00000059713 UniProt Q9UKA8 Q9JKK0 RefSeq (mRNA) NM_013441 NM_001251977 NM_001251978 NM_001251979 NM_001251980 NM_001251981 NM_001251982 NM_001251983 NM_001251984 NM_001251985 NM_022980 RefSeq (protein) NP_001238906 NP_001238907 NP_001238908 NP_001238909 NP_001238910 NP_001238911 NP_001238912 NP_001238913 NP_001238914 NP_038469 NP_075356 Location (UCSC) Chr 1: 24.5 – 24.54 Mb Chr 4: 135.14 – 135.16 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

RCAN3 is a gene that in humans encodes the Calcipressin-3 protein.

Calcipressin-1, which shares a similar function to Calcipressin-3. Both repress calcineurin.

Calcipressin-3 is a protein that in humans is encoded by the RCAN3 gene and is a member of the Calcipressin family of proteins. ^{[5] [6]}

Expression

RCAN3 is highly expressed in the Cerebellar Hemisphere, Prostrate, and the Mucosa of the esophagus. ^[7]

Orthologs

RCAN3 was present in the common ancestor of all animals. As a result, orthologs are present in other species, including mice (Rcan3), chickens (RCAN3), and zebrafish (rcan3). ^[8]

Clinical Significance

Calcipressin-3, along with the other two Calcipressin proteins have been identified as possible contributing factors to Down Syndrome in humans. ^[9]

Summary box

N/A

See also

• RCAN1
• RCAN2

References

1. GRCh38: Ensembl release 89: ENSG00000117602 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000059713 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Strippoli P, Lenzi L, Petrini M, Carinci P, Zannotti M (May 2000). "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)". Genomics. 64 (3): 252–63. doi:10.1006/geno.2000.6127. PMID   10756093.
6. "Entrez Gene: DSCR1L2 Down syndrome critical region gene 1-like 2".
7. "Gene Expression in 53 tissues from GTEx RNA-seq of 8555 samples (570 donors) (RCAN3)". genome.ucsc.edu. Retrieved 2020-06-11.
8. "RCAN3 Gene - GeneCards | RCAN3 Protein | RCAN3 Antibody". www.genecards.org. Retrieved 2020-06-11.
9. "InterPro". www.ebi.ac.uk. Retrieved 2020-06-11.

Further reading

• Facchin F, Canaider S, Vitale L, et al. (2008). "Identification and analysis of human RCAN3 (DSCR1L2) mRNA and protein isoforms". Gene. 407 (1–2): 159–68. doi:10.1016/j.gene.2007.10.006. PMID   18022329.
• Mulero MC, Aubareda A, Schlüter A, Pérez-Riba M (2007). "RCAN3, a novel calcineurin inhibitor that down-regulates NFAT-dependent cytokine gene expression". Biochim. Biophys. Acta. 1773 (3): 330–41. doi: 10.1016/j.bbamcr.2006.12.007 . PMID   17270291.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi: 10.1038/nature04727 . PMID   16710414.
• Canaider S, Facchin F, Griffoni C, et al. (2006). "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)". Gene. 372: 128–36. doi:10.1016/j.gene.2005.12.029. hdl: 11586/196835 . PMID   16516408.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.