ZNF668

Chr 16AR

zinc finger protein 668

Also known as: NEDGEF

ZNF668 encodes a zinc finger transcription factor that functions as a DNA-binding transcriptional repressor and is involved in DNA repair processes. Autosomal recessive mutations cause a neurodevelopmental disorder characterized by poor growth, large ears, and dysmorphic facial features. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.52), consistent with its role in essential cellular processes.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.521 OMIM phenotype
Clinical SummaryZNF668
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.52LOEUF
pLI 0.221
Z-score 3.14
OE 0.25 (0.130.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.35Z-score
OE missense 0.69 (0.630.76)
326 obs / 469.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.25 (0.130.52)
00.351.4
Missense OE0.69 (0.630.76)
00.61.4
Synonymous OE0.94
01.21.6
LoF obs/exp: 5 / 20.2Missense obs/exp: 326 / 469.4Syn Z: 0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF668 · 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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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC