ZNF384

Chr 12

zinc finger protein 384

Also known as: CAGH1, CAGH1A, CIZ, ERDA2, NMP4, NP, TNRC1

NCBI Gene: 171017ENSG00000126746UniProt: Q8TF68

This gene encodes a C2H2-type zinc finger transcription factor that binds to specific DNA sequences and regulates promoters of extracellular matrix genes including MMP1, MMP3, MMP7, and COL1A1. Mutations in ZNF384 cause developmental disorders with intellectual disability, developmental delay, and various congenital anomalies, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI 0.998, LOEUF 0.228), indicating that functional copies are essential for normal development.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
37
Pubs (1 yr)
44
P/LP submissions
0%
P/LP missense
0.23
LOEUF· LoF intol.
LOF
Mechanism· predicted
Clinical Summary— ZNF384
⚡
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.
📋
ClinVar Variants
44 unique Pathogenic / Likely Pathogenic· 69 VUS of 132 total submissions
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
0.23LOEUF
pLI 0.998
Z-score 4.52
OE 0.07 (0.03–0.23)
Highly constrained

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

Missense Constraint
2.44Z-score
OE missense 0.63 (0.56–0.70)
212 obs / 338.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.07 (0.03–0.23)
0≤0.351.4
Missense OE0.63 (0.56–0.70)
0≤0.61.4
Synonymous OE1.15
0≤1.21.6
LoF obs/exp: 2 / 27.6Missense obs/exp: 212 / 338.3Syn Z: -1.42
DN
0.5180th %ile
GOF
0.4283th %ile
LOF
0.83top 5%

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

LOFprediction above median · LOEUF 0.23

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

132 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic42
Likely Pathogenic2
VUS69
Likely Benign4
42
Pathogenic
2
Likely Pathogenic
69
VUS
4
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
2
0
2
VUS
0
61
8
0
69
Likely Benign
0
0
0
4
4
Benign
0
0
0
0
0
Total061524117

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

View in ClinVar →

Protein Context — Lollipop Plot

ZNF384 · 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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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