Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

RCAN3 - RCAN family member 3

Homo sapiens

Synonyms: Calcipressin-3, DSCR1L2, Down syndrome candidate region 1-like protein 2, MCIP3, Myocyte-enriched calcineurin-interacting protein 3, ...

Canaider, S. et al., Strippoli, P. et al., Strippoli, P. et al.

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Disease relevance of DSCR1L2

Analysis of expressed sequence tags (ESTs) shows DSCR1L2 expression in fetal tissues (heart, liver, and spleen) and in adenocarcinomas [1].

High impact information on DSCR1L2

These data indicate an entirely new role for a DSCR1-like family gene, suggesting a possible involvement of DSCR1L2 in cardiac contraction [2].
Here, we report the interaction between DSCR1L2 and the human cardiac troponin I (TNNI3), the heart-specific inhibitory subunit of the troponin complex, a central component of the contractile apparatus [2].
The aim of this work was to perform a first functional study of DSCR1L2 using yeast two-hybrid analysis conducted on a human heart cDNA library [2].
DSCR1L1 and DSCR1L2 murine genes are also located in chromosomal segments of chromosome 17 and 4, respectively, exactly corresponding to those containing the respective human homologs on chromosomes 6 and 1 [3].
The highest level of expression of DSCR1L2 mRNA was found by Northern blot analysis in heart and skeletal muscles, liver, kidney, and peripheral blood leukocytes (three transcripts of 3.2, 5. 2, and 7.5 kb) [1].

Biological context of DSCR1L2

Moreover, a new DSCR1L2 mRNA isoform, generated by alternative splicing, was identified and cloned in different tissues: it lacks two central exons, encoding the most conserved domains among the DSCR1-like protein family [2].

Anatomical context of DSCR1L2

ESTs related to the murine DSCR1L2 orthologue are found in the 2-cell stage mouse embryo, in developing brain stem and spinal cord, and in thymus and T cells [1].

Analytical, diagnostic and therapeutic context of DSCR1L2

A quantitative relative reverse transcription-polymerase chain reaction (RT-PCR) assay showed that in heart tissue the normalized expression level ratio for DSCR1L2 and DSCR1L2-E2E5 mRNA isoforms is 3.5:1, respectively [2].

References

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). Strippoli, P., Lenzi, L., Petrini, M., Carinci, P., Zannotti, M. Genomics (2000) [Pubmed]
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). Canaider, S., Facchin, F., Griffoni, C., Casadei, R., Vitale, L., Lenzi, L., Frabetti, F., D'Addabbo, P., Carinci, P., Zannotti, M., Strippoli, P. Gene (2006) [Pubmed]
The murine DSCR1-like (Down syndrome candidate region 1) gene family: conserved synteny with the human orthologous genes. Strippoli, P., Petrini, M., Lenzi, L., Carinci, P., Zannotti, M. Gene (2000) [Pubmed]

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