ZDBF2

Chr 2

zinc finger DBF-type containing 2

NCBI Gene: 57683 ENSG00000204186 OMIM: 617059

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.

OMIM ResearchSummary from RefSeq

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]

OMIM ResearchGenerating 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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ClinVar Variants

333 VUS of 477 total submissions

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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

477 submitted variants in ClinVar

ClinVar

Classification Summary

VUS333

Likely Benign89

Benign43

Conflicting7

333

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	6	327	0	0	333
Likely Benign	0	53	0	36	89
Benign	0	26	2	15	43
Conflicting	—				7
Total	6	406	2	51	472

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

26 pathogenic / likely-pathogenic (of 29) ClinVar copy-number / structural variants overlap ZDBF2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →