MAML2

Chr 11

mastermind like transcriptional coactivator 2

Also known as: MAM-3, MAM2, MAM3, MLL-MAML2

NCBI Gene: 84441ENSG00000184384UniProt: Q8IZL2

The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015]

Primary Disease Associations & Inheritance

Mucoepidermoid salivary gland carcinoma
0
Active trials
15
Pathogenic / LP
174
ClinVar variants
8
Pubs (1 yr)
—
Missense Z
—
LOEUF
Clinical Summary— MAML2
🧬
Gene-Disease Validity (ClinGen)
congenital heart disease · UDNo Known Disease Relationship

No known disease relationship

📋
ClinVar Variants
15 Pathogenic / Likely Pathogenic· 150 VUS of 174 total submissions
Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 502

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

DN
0.2698th %ile
GOF
0.2098th %ile
LOF
0.87top 5%

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

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

174 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
VUS150
Likely Benign6
Benign3
15
Pathogenic
150
VUS
6
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
15
0
15
Likely Pathogenic
0
0
0
0
0
VUS
0
141
9
0
150
Likely Benign
0
4
1
1
6
Benign
0
2
1
0
3
Total0147261174

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

View in ClinVar →

Protein Context — Lollipop Plot

MAML2 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
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
YAP1::MAML2 Fusion in Adnexal Tumors Combining Poroma and Sebaceous Components: Report of Two Cases.
Noebel C et al.·Am J Dermatopathol
2026Cohort
MAML2-Rearranged Hidradenoma of the Breast: Clinicopathologic and Molecular Analysis of Four Patients.
Gondo N et al.·Case Rep Pathol
2026Open AccessCohort
Primary thymic mucoepidermoid carcinoma with positive MAML2 gene rearrangement: a case report.
Luo Y et al.·Gland Surg
2026Open AccessCase report
YAP1::MAML2 fusion, a newly identified genetic anomaly in a posterior fossa infant tumor, associated with the methylation class "embryonal tumor with multilayered rosettes, non-C19MC-altered" in the Heidelberg central nervous system tumor classifier and "embryonal tumor with multilayered rosettes-DICER" in the NIH classifier.
Godfraind C et al.·Acta Neuropathol Commun
2025Open Access
Skin-analogue primary poroid neoplasms of the head and neck with YAP1/WWTR1::MAML2/NUTM1 fusions: clinicopathologic and genetic spectrum of a novel tumor family delineated in a series of 10 cases.
Agaimy A et al.·Virchows Arch
2025Cohort
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