ZNF292

Chr 6AD

zinc finger protein 292

Also known as: MRD63, MRD64, Nbla00365, ZFP292, ZN-16, Zn-15, bA393I2.3

NCBI Gene: 23036ENSG00000188994UniProt: O60281OMIM: 616213

This gene encodes a zinc finger transcription factor involved in transcriptional regulation. Mutations cause autosomal dominant intellectual developmental disorder, with the gene being highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.14). The inheritance pattern is autosomal dominant.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismADLOEUF 0.141 OMIM phenotype
Clinical Summary— ZNF292
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Gene-Disease Validity (ClinGen)
complex neurodevelopmental disorder · ADDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.14LOEUF
pLI 1.000
Z-score 8.30
OE 0.07 (0.04–0.14)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint
1.41Z-score
OE missense 0.89 (0.85–0.94)
1203 obs / 1348.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.07 (0.04–0.14)
0≤0.351.4
Missense OE0.89 (0.85–0.94)
0≤0.61.4
Synonymous OE1.12
0≤1.21.6
LoF obs/exp: 7 / 93.8Missense obs/exp: 1203 / 1348.5Syn Z: -2.14
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongZNF292-related developmental disorderLOFAD
DN
0.2499th %ile
GOF
0.16100th %ile
LOF
0.82top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.14

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF292 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
[LINC00261 suppresses esophageal squamous cell carcinoma proliferation, invasion, and metastasis by targeting the miR-23a-3p/ZNF292 axis].
Mi Y et al.·Nan Fang Yi Ke Da Xue Xue Bao
2025
Short Stature and Developmental Delay Associated With a Novel Frame-Shift Mutation in ZNF292: Case Report and Literature Review.
Dongxue L et al.·Clin Case Rep
2025Open AccessReview
Circular RNAs MTO1 and ZNF292 as potential diagnostic biomarkers in HIV patients treated with antiretroviral therapy.
Fatima M et al.·Mol Biol Rep
2025Cohort
Requirements for the neurodevelopmental disorder-associated gene ZNF292 in human cortical interneuron development and function.
Kaushik K et al.·Cell Rep
2025Open Access
The role of exosomal circular RNA ZNF292 in intermittent hypoxia-induced AC16 cardiomyocytes injury.
Xie HS et al.·Sleep Breath
2024
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