CSRNP2

Chr 12

cysteine and serine rich nuclear protein 2

Also known as: C12ORF2, C12orf22, FAM130A1, PPP1R72, TAIP-12

NCBI Gene: 81566ENSG00000110925UniProt: Q9H175OMIM: 620404

The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

OMIMResearchGenerating 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
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.33
LOEUF· LoF intol.
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.33LOEUF
pLI 0.960
Z-score 3.60
OE 0.11 (0.04–0.33)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.17Z-score
OE missense 0.66 (0.59–0.74)
214 obs / 324.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.11 (0.04–0.33)
0≤0.351.4
Missense OE?0.66 (0.59–0.74)
0≤0.61.4
Synonymous OE?0.80
0≤1.21.6
LoF obs/exp: 2 / 18.9Missense obs/exp: 214 / 324.1Syn Z: 1.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CSRNP2 · 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