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Gene Review

MAML2  -  mastermind-like 2 (Drosophila)

Homo sapiens

Synonyms: KIAA1819, MAM-3, MAM2, MAM3, MLL-MAML2, ...
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Disease relevance of MAML2


High impact information on MAML2


Chemical compound and disease context of MAML2


Biological context of MAML2

  • ISH analysis performed in cytogenetic suspension and/or in tumor paraffin sections demonstrated MAML2 rearrangement in 7 of 10 cases of MEC: all five cases with t(11;19), one case with normal karyotype, and one unkaryotyped case [11].
  • Recent cloning of the MEC-1/MAML2 gene, resulting from translocations of chromosomes 11q21 and 19p23, has for the first time linked specific genetic alterations to the development of specific salivary gland tumors [12].
  • Malignant salivary gland tumors can arise from a t(11;19) translocation that fuses 42 residues from Mect1/Torc1, a cyclic AMP (cAMP)/cAMP-responsive element binding protein (CREB)-dependent transcriptional coactivator, with 982 residues from Maml2, a NOTCH receptor coactivator [13].
  • Sustained expression of Mect1-Maml2 is essential for tumor cell growth in salivary gland cancers carrying the t(11;19) translocation [9].
  • The immunohistochemical expression of MAM-3 and MAM-6 antigens was studied developing human fetal salivary gland removed at autopsy of 22 normal fetuses of varying maturity (10-40 weeks of gestation) [14].

Anatomical context of MAML2

  • Two of the 7 peptides (MAM3 and MAM7) successfully induced peptide-specific T cells [3].
  • Immunohistochemical localization of MAM-3 and MAM-6 antigens in adenoid cystic carcinoma [4].
  • Myoepithelial derived tumor cells of ACC accompanying hyaline stroma demonstrated positive staining for the MAM-6 antigen (whole cell positive type), and luminal tumor cells of microcysts showed strong staining for the MAM-3 antigen [4].
  • About 200 human tumours and corresponding normal tissue samples were investigated by immunoperoxidase tests for the expression of MAM-3, MAM-5 and MAM-6 antigens, which had previously been defined by monoclonal antibodies to human milk fat globule membranes [15].

Regulatory relationships of MAML2

  • Here, we demonstrate that the MECT1-MAML2 fusion protein induces expression of multiple genes known to be CREB transcriptional targets [7].


  1. Clear cell hidradenoma of the skin-a third tumor type with a t(11;19)--associated TORC1-MAML2 gene fusion. Behboudi, A., Winnes, M., Gorunova, L., van den Oord, J.J., Mertens, F., Enlund, F., Stenman, G. Genes Chromosomes Cancer (2005) [Pubmed]
  2. Altered Notch signaling resulting from expression of a WAMTP1-MAML2 gene fusion in mucoepidermoid carcinomas and benign Warthin's tumors. Enlund, F., Behboudi, A., Andrén, Y., Oberg, C., Lendahl, U., Mark, J., Stenman, G. Exp. Cell Res. (2004) [Pubmed]
  3. Mammaglobin-A is a tumor-associated antigen in human breast carcinoma. Tanaka, Y., Amos, K.D., Fleming, T.P., Eberlein, T.J., Goedegebuure, P.S. Surgery (2003) [Pubmed]
  4. Immunohistochemical localization of MAM-3 and MAM-6 antigens in adenoid cystic carcinoma. Yamada, K., Kunikata, M., Mori, M., Chomette, G., Auriol, M., Vaillant, J.M., Tubura, A., Morii, S., Hilgers, J. J. Oral Pathol. Med. (1991) [Pubmed]
  5. Expression of MAM-3 and MAM-6 antigens in endometrial and endocervical adenocarcinomas. Tsubura, A., Morii, S., Hilkens, J., Hilgers, J. Virchows Archiv. A, Pathological anatomy and histopathology. (1985) [Pubmed]
  6. t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway. Tonon, G., Modi, S., Wu, L., Kubo, A., Coxon, A.B., Komiya, T., O'Neil, K., Stover, K., El-Naggar, A., Griffin, J.D., Kirsch, I.R., Kaye, F.J. Nat. Genet. (2003) [Pubmed]
  7. Transforming activity of MECT1-MAML2 fusion oncoprotein is mediated by constitutive CREB activation. Wu, L., Liu, J., Gao, P., Nakamura, M., Cao, Y., Shen, H., Griffin, J.D. EMBO J. (2005) [Pubmed]
  8. Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. Wu, L., Sun, T., Kobayashi, K., Gao, P., Griffin, J.D. Mol. Cell. Biol. (2002) [Pubmed]
  9. Sustained expression of Mect1-Maml2 is essential for tumor cell growth in salivary gland cancers carrying the t(11;19) translocation. Komiya, T., Park, Y., Modi, S., Coxon, A.B., Oh, H., Kaye, F.J. Oncogene (2006) [Pubmed]
  10. Immunohistochemical expression of MAM-3 and MAM-6 antigens in salivary gland tumours. Yamada, K., Tanaka, T., Mori, M., Tsubura, A., Morii, S., Tsubone, M., Ando, C., Hilgers, J. Virchows Archiv. A, Pathological anatomy and histopathology. (1989) [Pubmed]
  11. A study of MECT1-MAML2 in mucoepidermoid carcinoma and Warthin's tumor of salivary glands. Martins, C., Cavaco, B., Tonon, G., Kaye, F.J., Soares, J., Fonseca, I. The Journal of molecular diagnostics : JMD. (2004) [Pubmed]
  12. Clear Cell Hidradenoma of the Skin-A Third Tumor Type With a t(11;19)-Associated TORC1-MAML2 Gene Fusion: Genes Chromosomes Cancer. 2005;43:202-205. El-Naggar, A.K. Advances in anatomic pathology. (2006) [Pubmed]
  13. Mect1-Maml2 fusion oncogene linked to the aberrant activation of cyclic AMP/CREB regulated genes. Coxon, A., Rozenblum, E., Park, Y.S., Joshi, N., Tsurutani, J., Dennis, P.A., Kirsch, I.R., Kaye, F.J. Cancer Res. (2005) [Pubmed]
  14. Immunohistochemical distribution of MAM-3 and MAM-6 antigens in developing salivary glands of the human fetus. Lee, S.K., Lim, C.Y., Chi, J.G., Yamada, K., Mori, M., Tsubura, A., Morii, S., Hilgers, J., Govindarajan, M. Histochem. J. (1991) [Pubmed]
  15. Epithelial markers for paraffin-embedded human tissues. Immunohistochemistry with monoclonal antibodies against milk fat globule antigens. Zotter, S., Lossnitzer, A., Kunze, K.D., Müller, M., Hilkens, J., Hilgers, J., Hageman, P. Virchows Archiv. A, Pathological anatomy and histopathology. (1985) [Pubmed]
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