ZBED4

Chr 22

zinc finger BED-type containing 4

The ZBED4 protein is a transcriptional regulator that binds to poly-guanine tracts in gene promoters and activates transcription by RNA polymerase II. The gene is highly constrained against loss-of-function variants (LOEUF 0.405), suggesting that mutations would likely cause significant developmental or neurological effects. However, specific diseases associated with ZBED4 mutations and their inheritance patterns have not yet been clearly established in the clinical literature.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.41
Clinical SummaryZBED4
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.51) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.41LOEUF
pLI 0.507
Z-score 4.14
OE 0.22 (0.120.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.26Z-score
OE missense 0.77 (0.710.82)
560 obs / 732.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.22 (0.120.41)
00.351.4
Missense OE0.77 (0.710.82)
00.61.4
Synonymous OE1.12
01.21.6
LoF obs/exp: 7 / 32.5Missense obs/exp: 560 / 732.0Syn Z: -1.78

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZBED4 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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