APOBEC2

Chr 6

apolipoprotein B mRNA editing enzyme catalytic subunit 2

NCBI Gene: 10930ENSG00000124701UniProt: Q9Y235

Probable C to U editing enzyme whose physiological substrate is not yet known. Does not display detectable apoB mRNA editing. Has a low intrinsic cytidine deaminase activity. May play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation

ResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.06
LOEUF
Multiple*
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?
1.06LOEUF
pLI 0.017
Z-score 1.45
OE 0.47 (0.23–1.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.21Z-score
OE missense 1.05 (0.92–1.21)
136 obs / 129.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.47 (0.23–1.06)
0≤0.351.4
Missense OE?1.05 (0.92–1.21)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 4 / 8.6Missense obs/exp: 136 / 129.2Syn Z: -0.82

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

APOBEC2 · 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