CD2BP2

Chr 16

CD2 cytoplasmic tail binding protein 2

Involved in pre-mRNA splicing as component of the U5 snRNP complex that is involved in spliceosome assembly

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.04
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.04LOEUF
pLI 0.000
Z-score 1.46
OE 0.61 (0.381.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.56Z-score
OE missense 1.11 (0.991.24)
233 obs / 210.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.61 (0.381.04)
00.351.4
Missense OE?1.11 (0.991.24)
00.61.4
Synonymous OE?1.40
01.21.6
LoF obs/exp: 10 / 16.4Missense obs/exp: 233 / 210.2Syn Z: -2.88

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

CD2BP2 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →