ZDBF2

Chr 2

zinc finger DBF-type containing 2

This gene encodes a protein containing DBF4-type zinc finger domains and is paternally expressed due to genomic imprinting. Mutations cause neurodevelopmental disorders with intellectual disability, and the gene shows high constraint against loss-of-function variants (LOEUF 0.46). The inheritance pattern involves paternal expression, meaning clinical manifestations depend on mutations inherited from the father.

OMIMResearchSummary from RefSeq
LOEUF 0.46
Clinical SummaryZDBF2
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.46LOEUF
pLI 0.010
Z-score 4.31
OE 0.28 (0.180.46)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.46Z-score
OE missense 0.96 (0.921.01)
1140 obs / 1184.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.28 (0.180.46)
00.351.4
Missense OE0.96 (0.921.01)
00.61.4
Synonymous OE0.97
01.21.6
LoF obs/exp: 12 / 42.3Missense obs/exp: 1140 / 1184.6Syn Z: 0.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZDBF2 · 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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