ZNF24

Chr 18

zinc finger protein 24

Also known as: KOX17, RSG-A, ZNF191, ZSCAN3, Zfp191

NCBI Gene: 7572ENSG00000172466UniProt: P17028OMIM: 194534

This transcription factor is required for oligodendrocyte myelination and the conversion from premyelinating to myelinating states in the central nervous system. Mutations cause autosomal dominant neurodevelopmental disorders affecting white matter and myelination. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.30), indicating that haploinsufficiency is likely not tolerated.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.30
Clinical Summary— ZNF24
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
45 unique Pathogenic / Likely Pathogenic· 30 VUS of 80 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.30LOEUF
pLI 0.981
Z-score 3.83
OE 0.10 (0.04–0.30)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.05Z-score
OE missense 0.59 (0.50–0.69)
114 obs / 194.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.10 (0.04–0.30)
0≤0.351.4
Missense OE0.59 (0.50–0.69)
0≤0.61.4
Synonymous OE0.91
0≤1.21.6
LoF obs/exp: 2 / 20.9Missense obs/exp: 114 / 194.3Syn Z: 0.56

ClinVar Variant Classifications

80 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic42
Likely Pathogenic3
VUS30
Likely Benign1
42
Pathogenic
3
Likely Pathogenic
30
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
42
0
42
Likely Pathogenic
0
0
3
0
3
VUS
0
29
1
0
30
Likely Benign
0
0
1
0
1
Benign
0
0
0
0
0
Total02947076

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

View in ClinVar →

Protein Context — Lollipop Plot

ZNF24 · 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

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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