HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZNF384
zinc finger protein 384
Chromosome 12 · 12p13.31
NCBI Gene: 171017Ensembl: ENSG00000126746.19HGNC: HGNC:11955UniProt: A0A804HJE2
88PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingtranscription cis-regulatory region bindingregulation of transcription by RNA polymerase IInucleusneurodegenerative diseaseB-cell acute lymphoblastic leukemiahepatocellular carcinomamelanoma
✦AI Summary

ZNF384 is a C2H2-type zinc finger transcription factor that binds the consensus DNA sequence [GC]AAAAA and regulates promoters of genes including MMP1, MMP3, MMP7, and COL1A1. In normal physiology, ZNF384 functions as a sequence-specific DNA-binding protein localized to the nucleus, binding zinc ions for structural stability 1. ZNF384 is clinically significant primarily as a recurrent fusion partner in acute lymphoblastic leukemia (ALL). Over 19 different ZNF384 fusion partners have been identified in ALL, including EP300, CREBBP, TCF3, TAF15, EWSR1, and others 1. The EP300-ZNF384 fusion was demonstrated to induce leukemia in mice and perturbs B-cell differentiation 2. ZNF384 rearrangements occur in both B-ALL and mixed phenotype acute leukemia (B/M MPAL), where they are particularly common 3. Clinically, ZNF384-rearranged ALL patients have intermediate-risk disease with 5-year overall survival of 33-45% in adult cohorts 4. Single-cell analysis reveals that ZNF384-rearranged B-ALL shows enrichment of hematopoietic stem cells in its cellular composition 5. Interestingly, ZNF384 has been identified as a predicted transcription factor regulating genes (PPARG, ZNF415, HLX, ANHX) implicated in inflammation and metabolism dysregulation in psoriasis and Alzheimer's disease 6, suggesting potential broader biological roles beyond leukemia.

Sources cited
1
ZNF384 is a C2H2-type zinc finger transcription factor; over 19 fusion partners detected in ALL; EP300-ZNF384 induces leukemia in mice
PMID: 37306722
2
ZNF384 fusion identified as clinically relevant in B-ALL; EP300-ZNF384 perturbs B-cell differentiation and induces leukemia in mice
PMID: 27428428
3
ZNF384 rearrangement is common in B/M MPAL (B/myeloid mixed phenotype acute leukemia)
PMID: 30209392
4
ZNF384-rearranged ALL is intermediate-risk disease with 5-year overall survival of 33-45% in adult BCR-ABL1-negative B-ALL
PMID: 33895809
5
ZNF384-rearranged B-ALL shows enrichment of hematopoietic stem cells in cellular composition by single-cell RNA-seq
PMID: 38106088
6
ZNF384 is a predicted transcription factor regulating PPARG, ZNF415, HLX, and ANHX; proposed as potential therapeutic target for psoriasis and Alzheimer's disease through inflammation and metabolism pathways
PMID: 35669784
7
ZNF384 rearrangement recognized as novel B-ALL entity in WHO 5th edition and ICC classification
PMID: 37120350
8
ZNF384-rearranged ALL identified in pediatric ALL cohort by RNA-seq with prognostic and therapeutic significance
PMID: 34933343
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.40Moderate
B-cell acute lymphoblastic leukemiaOpen Targets
0.28Weak
hepatocellular carcinomaOpen Targets
0.21Weak
melanomaOpen Targets
0.20Weak
osteosarcomaOpen Targets
0.19Weak
ovarian serous adenocarcinomaOpen Targets
0.19Weak
oral squamous cell carcinomaOpen Targets
0.19Weak
colon adenocarcinomaOpen Targets
0.19Weak
urinary bladder carcinomaOpen Targets
0.19Weak
chronic lymphocytic leukemiaOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.19Weak
head and neck squamous cell carcinomaOpen Targets
0.19Weak
multiple myelomaOpen Targets
0.19Weak
small cell lung carcinomaOpen Targets
0.19Weak
lung carcinomaOpen Targets
0.19Weak
colorectal adenocarcinomaOpen Targets
0.18Weak
Gallbladder AdenocarcinomaOpen Targets
0.18Weak
lobular breast carcinomaOpen Targets
0.18Weak
papillary thyroid carcinomaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CPSF7Protein interaction86%BCAR1Protein interaction81%DUX4Protein interaction72%MEF2DProtein interaction70%NUTM1Co-mentioned in literature20%AFF1Co-mentioned in literature20%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
76%
Lung
60%
Heart
53%
Brain
49%
Liver
44%
Gene Interaction Network
Click a node to explore
ZNF384CPSF7BCAR1DUX4MEF2DNUTM1AFF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TF68
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.12–0.31]
RankingsWhere ZNF384 stands among ~20K protein-coding genes
  • #5,457of 20,598
    Most Researched88
  • #1,235of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedZNF384
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Emerging molecular subtypes and therapies in acute lymphoblastic leukemia.
PMID: 37120350
Semin Diagn Pathol · 2023
1.00
2
The genetic basis and cell of origin of mixed phenotype acute leukaemia.
PMID: 30209392
Nature · 2018
0.90
3
ZNF384: A Potential Therapeutic Target for Psoriasis and Alzheimer's Disease Through Inflammation and Metabolism.
PMID: 35669784
Front Immunol · 2022
0.80
4
Genomic Profiling of Adult and Pediatric B-cell Acute Lymphoblastic Leukemia.
PMID: 27428428
EBioMedicine · 2016
0.70
5
Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL.
PMID: 33895809
Blood · 2021
0.60