RCAN2

Chr 6

regulator of calcineurin 2

Also known as: CSP2, DSCR1L1, MCIP2, ZAKI-4, ZAKI4

NCBI Gene: 10231ENSG00000172348UniProt: Q14206

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.46
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.46LOEUF
pLI 0.835
Z-score 2.69
OE 0.10 (0.03–0.46)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.18Z-score
OE missense 0.72 (0.61–0.85)
102 obs / 141.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.10 (0.03–0.46)
0≤0.351.4
Missense OE?0.72 (0.61–0.85)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 1 / 10.3Missense obs/exp: 102 / 141.6Syn Z: 0.52

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RCAN2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients