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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MAML2
mastermind like transcriptional coactivator 2
Chromosome 11 · 11q21
NCBI Gene: 84441Ensembl: ENSG00000184384.15HGNC: HGNC:16259UniProt: Q8IZL2
102PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription coactivator activityprotein bindingNotch signaling pathwaynucleoplasmcancerneurodegenerative diseaseotosclerosissalivary gland mucoepidermoid carcinoma
✦AI Summary

MAML2 (mastermind like transcriptional coactivator 2) functions as a transcriptional coactivator that potentiates NOTCH-induced gene expression, particularly of target genes like HES1 1. While MAML2's primary role involves NOTCH signaling pathway regulation, it has significant clinical relevance as a component of recurrent gene fusions in multiple tumor types. The CRTC1-MAML2 fusion oncogene, resulting from t(11;19) translocation, is a hallmark molecular feature of mucoepidermoid carcinoma (MEC) and acts as a transcription factor disrupting normal cell-cycle and differentiation pathways 1. MAML2 fusion detection demonstrates high diagnostic utility: CRTC1/3::MAML2 fusions show 100% sensitivity and 70.59% specificity in distinguishing intraosseous mucoepidermoid carcinoma from glandular odontogenic cyst 2. Beyond MEC, MAML2 participates in fusion events across diverse neoplasms, including YAP1::MAML2 fusions in sweat gland tumors (hidradenoma, hidradenocarcinoma, poroid tumors) 3, hemangioendothelioma 4, and myxoinflammatory fibroblastic sarcoma 5. Molecular testing for MAML2 gene rearrangements via FISH, RT-PCR, or NGS represents a valuable diagnostic aid in distinguishing these rare malignancies from morphologically similar entities 6, with potential prognostic implications in MEC management 1.

Sources cited
1
CRTC1-MAML2 fusion acts as a transcription factor on Notch and CREB regulatory pathways, disrupting normal cell-cycle and differentiation in mucoepidermoid carcinoma with prognostic significance
PMID: 18486532
2
CRTC1/3::MAML2 gene fusion shows 100% sensitivity and 70.59% specificity in distinguishing intraosseous mucoepidermoid carcinoma from glandular odontogenic cyst
PMID: 36357765
3
CRTC1::MAML2 fusion identified in hidradenoma and hidradenocarcinoma; YAP1:MAML2 fusions identified in poroid tumors of acral sweat gland sites
PMID: 37505808
4
YAP1-MAML2 fusion detected in retiform and composite hemangioendotheliomas, with distinct clinical features based on fusion status
PMID: 32991341
5
Recurrent YAP1::MAML2 fusions identified in nodular necrotizing variant of myxoinflammatory fibroblastic sarcoma
PMID: 35546636
6
MAML2 gene rearrangement detection by FISH, RT-PCR or NGS aids in diagnosis of mucoepidermoid carcinoma and distinguishes it from other carcinomas
PMID: 36481651
Disease Associationsⓘ20
cancerOpen Targets
0.59Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
otosclerosisOpen Targets
0.39Weak
salivary gland mucoepidermoid carcinomaOpen Targets
0.37Weak
pulmonary mucoepidermoid carcinomaOpen Targets
0.37Weak
pancreatic ductal adenocarcinomaOpen Targets
0.37Weak
pancreatic carcinomaOpen Targets
0.37Weak
Cervical Adenosquamous CarcinomaOpen Targets
0.37Weak
prostate adenocarcinomaOpen Targets
0.37Weak
adenosquamous lung carcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Major Salivary Gland Mucoepidermoid CarcinomaOpen Targets
0.37Weak
mucoepidermoid carcinoma of parotid glandOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
skin carcinomaOpen Targets
0.37Weak
Thyroid Gland Mucoepidermoid CarcinomaOpen Targets
0.37Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EP300Protein interaction99%HEYLProtein interaction98%KAT2BProtein interaction97%CREBBPProtein interaction96%CCNCProtein interaction95%CRTC1Protein interaction95%
Tissue Expression6 tissues
Lung
100%
Ovary
63%
Heart
54%
Brain
51%
Bone Marrow
29%
Liver
11%
Gene Interaction Network
Click a node to explore
MAML2EP300HEYLKAT2BCREBBPCCNCCRTC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IZL2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.15–0.31]
RankingsWhere MAML2 stands among ~20K protein-coding genes
  • #4,680of 20,598
    Most Researched102 · top quartile
  • #1,207of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedMAML2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Pleomorphic adenoma: the great mimicker of malignancy.
PMID: 33368685
Histopathology · 2021
1.00
2
Diagnostic Reliability of CRTC1/3::MAML2 Gene Fusion Transcripts in Discriminating Histologically Similar Intraosseous Mucoepidermoid Carcinoma from Glandular Odontogenic Cyst: A Systematic Review and Meta-analysis.
PMID: 36357765
Head Neck Pathol · 2023
0.90
3
Mucoepidermoid carcinoma of the esophagus with MAML2 gene rearrangement: Case report and literature review.
PMID: 36481651
Pathol Res Pract · 2023
0.80
4
Sweat Gland Tumors Arising on Acral Sites: A Molecular Survey.
PMID: 37505808
Am J Surg Pathol · 2023
0.70
5
Recurrent YAP1 and MAML2 Gene Rearrangements in Retiform and Composite Hemangioendothelioma.
PMID: 32991341
Am J Surg Pathol · 2020
0.60