ZDBF2

Chr 2

zinc finger DBF-type containing 2

NCBI Gene: 57683ENSG00000204186UniProt: Q9HCK1OMIM: 617059

This gene encodes a protein containing DBF4-type zinc finger domains. This gene is imprinted and paternally expressed in lymphocytes but is more stochastically expressed in the placenta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]

OMIMResearchGenerating clinical summary…
LOEUF 0.46
Clinical Summary— ZDBF2
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.46LOEUF
pLI 0.010
Z-score 4.31
OE 0.28 (0.18–0.46)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.46Z-score
OE missense 0.96 (0.92–1.01)
1140 obs / 1184.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.28 (0.18–0.46)
0≤0.351.4
Missense OE?0.96 (0.92–1.01)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 12 / 42.3Missense obs/exp: 1140 / 1184.6Syn Z: 0.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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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