CTDSP2

Chr 12

CTD small phosphatase 2

Also known as: OS4, PSR2, SCP2

NCBI Gene: 10106ENSG00000175215UniProt: O14595

Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Involved in protein dephosphorylation. Predicted to be located in nucleoplasm. Predicted to be part of TIM23 mitochondrial import inner membrane translocase complex. [provided by Alliance of Genome Resources, Jul 2025]

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
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.67
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.67LOEUF
pLI 0.114
Z-score 2.43
OE 0.29 (0.14–0.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.51Z-score
OE missense 0.67 (0.57–0.78)
107 obs / 160.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.29 (0.14–0.67)
0≤0.351.4
Missense OE?0.67 (0.57–0.78)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 4 / 13.7Missense obs/exp: 107 / 160.7Syn Z: 0.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CTDSP2 · 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