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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MAML3
mastermind like transcriptional coactivator 3
Chromosome 4 · 4q31.1
NCBI Gene: 55534Ensembl: ENSG00000196782.14HGNC: HGNC:16272UniProt: Q96JK9
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription coactivator activityprotein bindingNotch signaling pathwaypositive regulation of transcription by RNA polymerase IIcancerneurodegenerative diseasesmoking initiationtype 2 diabetes mellitus
✦AI Summary

MAML3 (Mastermind Like Transcriptional Coactivator 3) functions as a transcriptional coactivator in the Notch signaling pathway, amplifying NOTCH-induced transcription of target genes like HES1. While the provided abstracts do not detail MAML3's primary molecular mechanism, its clinical significance emerges primarily through fusion events rather than standard gene function. MAML3 fusion genes represent a distinct oncogenic driver in pheochromocytomas and paragangliomas (PPGLs). MAML3 fusions occur in approximately 3.65% of PCC/PGL cases and define a molecularly distinct subtype characterized by Wnt pathway dysregulation 1. MAML3-fusion tumors show increased expression of neuroendocrine-to-mesenchymal transition markers, MYC-targets, and angiogenesis-related genes, creating a unique tumor microenvironment with enhanced vascular networks 2. Critically, MAML3-fusion status strongly correlates with metastatic risk, making it a prognostic marker for disease progression 12. Beyond PPGLs, MAML3 participates in oncogenic fusions in undifferentiated round cell sarcomas, including BCOR-MAML3 and related chimeric fusion proteins 345. MAML3-fusion sarcomas present in young adults with variable anatomic distribution and often display spindle cell morphology distinct from other fusion-positive tumors. Therapeutically, MAML3-fusion PPGL tumors demonstrate PD-L1 and CD40 overexpression, suggesting immunotherapy vulnerability 26.

Sources cited
1
MAML3 fusion identified as driver in pheochromocytomas/paragangliomas; defines Wnt-altered subtype; correlates with metastatic disease
PMID: 28162975
2
MAML3-fusion prevalence 3.65% in large cohort; associated with increased metastatic risk; tumors show neuroendocrine-to-mesenchymal transition, angiogenesis, PD-L1/CD40 overexpression
PMID: 39218714
3
MAML3-related PPGL tumors express PD-L1; exceptional PD-L1 expression in otherwise immunosuppressive PPGL microenvironment
PMID: 36854674
4
MAML3-fusion tumors characterized by hypoxia-inducible factor signaling and neoangiogenesis
PMID: 36271074
5
BCOR-MAML3 fusion identified in small blue round cell sarcomas; presents in young adults with distinct transcriptional profile
PMID: 26752546
6
BCOR-MAML3 represents oncogenic driver in round cell sarcomas; shares genomic group with other BCOR alterations
PMID: 29300189
7
BCOR-MAML3 fusion is driver element in various sarcomas including small round blue cell sarcoma and other mesenchymal tumors
PMID: 31150281
Disease Associationsⓘ20
cancerOpen Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
smoking initiationOpen Targets
0.45Moderate
type 2 diabetes mellitusOpen Targets
0.45Moderate
major depressive disorderOpen Targets
0.45Moderate
gastroesophageal reflux diseaseOpen Targets
0.44Moderate
prostate carcinomaOpen Targets
0.43Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.41Moderate
vertebral column disorderOpen Targets
0.36Weak
alcohol drinkingOpen Targets
0.35Weak
diabetes mellitusOpen Targets
0.35Weak
Dental malocclusionOpen Targets
0.35Weak
Abruptio PlacentaeOpen Targets
0.33Weak
Abnormality of the gastrointestinal tractOpen Targets
0.32Weak
smoking cessationOpen Targets
0.32Weak
glomerulonephritisOpen Targets
0.31Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.31Weak
coronary artery diseaseOpen Targets
0.30Weak
Back painOpen Targets
0.30Weak
cannabis dependenceOpen Targets
0.30Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EP300Protein interaction99%HEYLProtein interaction99%KAT2BProtein interaction97%CREBBPProtein interaction96%CCNCProtein interaction94%CRTC1Protein interaction94%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
72%
Lung
56%
Brain
55%
Liver
41%
Heart
38%
Gene Interaction Network
Click a node to explore
MAML3EP300HEYLKAT2BCREBBPCCNCCRTC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96JK9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.33Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.17–0.33]
RankingsWhere MAML3 stands among ~20K protein-coding genes
  • #11,741of 20,598
    Most Researched31
  • #1,355of 17,882
    Most Constrained (LOEUF)0.33 · top 10%
Genes detectedMAML3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.
PMID: 28162975
Cancer Cell · 2017
1.00
2
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol · 2024
0.90
3
MAML3-fusions modulate vascular and immune tumour microenvironment and confer high metastatic risk in pheochromocytoma and paraganglioma.
PMID: 39218714
Best Pract Res Clin Endocrinol Metab · 2024
0.80
4
Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma.
PMID: 36854674
Nat Commun · 2023
0.70
5
BCOR-CCNB3 Fusion Positive Sarcomas: A Clinicopathologic and Molecular Analysis of 36 Cases With Comparison to Morphologic Spectrum and Clinical Behavior of Other Round Cell Sarcomas.
PMID: 29300189
Am J Surg Pathol · 2018
0.60