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.
MXD4
MAX dimerization protein 4
Chromosome 4 · 4p16.3
NCBI Gene: 10608Ensembl: ENSG00000123933.18HGNC: HGNC:13906UniProt: Q14582
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolnegative regulation of transcription by RNA polymerase IIregulation of transcription by RNA polymerase IIneurodegenerative diseaseacute myeloid leukemiaFamilial progressive cardiac conduction defectRomano-Ward syndrome
✦AI Summary

MXD4 (MAX Dimerization Protein 4) is a transcriptional repressor that functions as a MYC antagonist by forming sequence-specific DNA-binding complexes with MAX 12. The protein recognizes the core DNA sequence 5'-CAC[GA]TG-3' and suppresses MYC-dependent gene expression and cell transformation 13. MXD4 belongs to the extended Myc Network, where it opposes MYC functions by competing for MAX binding, thereby regulating proliferation, metabolism, and cell survival 3. In acute myeloid leukemia, MXD4 acts as a tumor suppressor whose expression is suppressed by the UHRF1-SAP30 axis and METTL16-mediated mRNA instability, leading to MYC pathway activation and leukemogenesis 12. MXD4 also regulates normal tissue homeostasis, controlling keratinocyte precursor fate in human epidermis and promoting CD8+ T-cell memory formation 45. Additionally, MXD4 contributes to T-cell survival through OX40 engagement-mediated protein stabilization 6. Dysregulation of MXD4 through fusion proteins (MAD::NUT fusions) defines a distinct class of sarcomas separate from NUT carcinoma 7. The protein's function as a MYC antagonist makes it crucial for preventing aberrant cell proliferation and maintaining cellular homeostasis.

Sources cited
1
MXD4 is a MYC antagonist repressed by UHRF1-SAP30 axis in AML, and its derepression leads to suppression of leukemogenesis
PMID: 36302855
2
METTL16 controls MXD4 mRNA stability through m6A modification, and MXD4 reduction activates the MYC-MAX axis in AML
PMID: 40946103
3
MXD4 belongs to the extended Myc Network and opposes MYC functions by heterodimerizing with MAX
PMID: 35203395
4
MXD4 regulates human keratinocyte precursor fate and is expressed higher in quiescent stem/progenitor cells
PMID: 36007550
5
CDK4/6 inhibition upregulates MXD4 in CD8+ T cells, promoting memory formation through the MXD4-MYC axis
PMID: 33941591
6
OX40 engagement stabilizes MXD4 protein levels in T cells through phosphorylation, contributing to cell survival
PMID: 21400495
7
MAD::NUT fusions involving MXD4 define a distinct sarcoma class separate from NUT carcinoma
PMID: 39921028
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
acute myeloid leukemiaOpen Targets
0.08Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.05Suggestive
Romano-Ward syndromeOpen Targets
0.05Suggestive
Brugada syndromeOpen Targets
0.05Suggestive
hypertrophic cardiomyopathyOpen Targets
0.05Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.04Suggestive
bundle branch blockOpen Targets
0.04Suggestive
progressive familial heart block, type 1AOpen Targets
0.04Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.04Suggestive
arrhythmogenic right ventricular dysplasia 10Open Targets
0.04Suggestive
familial atrial fibrillationOpen Targets
0.04Suggestive
dilated cardiomyopathyOpen Targets
0.04Suggestive
familial sick sinus syndromeOpen Targets
0.04Suggestive
22q11.2 deletion syndromeOpen Targets
0.04Suggestive
dilated cardiomyopathy 1EOpen Targets
0.04Suggestive
Brugada syndrome 1Open Targets
0.04Suggestive
atrial conduction diseaseOpen Targets
0.04Suggestive
Wolff-Parkinson-White SyndromeOpen Targets
0.04Suggestive
left ventricular noncompactionOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MLXIPProtein interaction99%MAXProtein interaction90%MNTProtein interaction90%MLXProtein interaction90%SIN3AProtein interaction82%NIF3L1Protein interaction78%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
92%
Ovary
61%
Heart
53%
Liver
48%
Brain
31%
Gene Interaction Network
Click a node to explore
MXD4MLXIPMAXMNTMLXSIN3ANIF3L1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q14582
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.61–1.37]
RankingsWhere MXD4 stands among ~20K protein-coding genes
  • #11,553of 20,598
    Most Researched32
  • #14,283of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedMXD4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Targeting UHRF1-SAP30-MXD4 axis for leukemia initiating cell eradication in myeloid leukemia.
PMID: 36302855
Cell Res · 2022
1.00
2
NUT-rearranged sarcoma.
PMID: 40609381
Semin Diagn Pathol · 2025
0.90
3
METTL16-mediated inhibition of MXD4 promotes leukemia through activation of the MYC-MAX axis.
PMID: 40946103
Oncogene · 2025
0.80
4
MXD4/MAD4 Regulates Human Keratinocyte Precursor Fate.
PMID: 36007550
J Invest Dermatol · 2023
0.70
5
Normal and Neoplastic Growth Suppression by the Extended Myc Network.
PMID: 35203395
Cells · 2022
0.60