Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MAML2 Gene

Aliases for MAML2 Gene

  • Mastermind Like Transcriptional Coactivator 2 2 3 5
  • Mam-2 3 4
  • Mastermind-Like Transcriptional Coactivator 2 3
  • Mastermind (Drosophila)-Like 2 2
  • Mastermind-Like 2 (Drosophila) 2
  • Mastermind-Like 2 3
  • MLL-MAML2 3
  • KIAA1819 4
  • MAM-3 3
  • MAM2 3
  • MAM3 3

External Ids for MAML2 Gene

Previous GeneCards Identifiers for MAML2 Gene

  • GC11M097219
  • GC11M095895
  • GC11M095399
  • GC11M095351
  • GC11M095711

Summaries for MAML2 Gene

Entrez Gene Summary for MAML2 Gene

  • 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]

GeneCards Summary for MAML2 Gene

MAML2 (Mastermind Like Transcriptional Coactivator 2) is a Protein Coding gene. Diseases associated with MAML2 include Hidradenoma and Mucoepidermoid Carcinoma. Among its related pathways are Gene Expression and Signaling by NOTCH1. GO annotations related to this gene include transcription coactivator activity. An important paralog of this gene is MAML1.

UniProtKB/Swiss-Prot for MAML2 Gene

  • Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3.

Gene Wiki entry for MAML2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAML2 Gene

Genomics for MAML2 Gene

Regulatory Elements for MAML2 Gene

Enhancers for MAML2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MAML2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MAML2 Gene

95,976,204 bp from pter
96,343,245 bp from pter
367,042 bases
Minus strand

Genomic View for MAML2 Gene

Genes around MAML2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAML2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAML2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAML2 Gene

Proteins for MAML2 Gene

  • Protein details for MAML2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Mastermind-like protein 2
    Protein Accession:
    Secondary Accessions:
    • A7MD26
    • Q6AI23
    • Q6Y3A3
    • Q8IUL3
    • Q96JK6

    Protein attributes for MAML2 Gene

    1156 amino acids
    Molecular mass:
    125197 Da
    Quaternary structure:
    • Interacts through its N-terminal region with the ankyrin repeat region of the Notch proteins NOTCH1, NOTCH2, NOTCH3 and NOTCH4. Forms a DNA-binding complex with Notch proteins and RBPSUH/RBP-J kappa.
    • Sequence=AAK93833.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAP12462.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB47448.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for MAML2 Gene

Proteomics data for MAML2 Gene at MOPED

Post-translational modifications for MAML2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAML2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAML2 Gene

Domains & Families for MAML2 Gene

Protein Domains for MAML2 Gene

Suggested Antigen Peptide Sequences for MAML2 Gene

Graphical View of Domain Structure for InterPro Entry



  • The C-terminal domain is required for transcriptional activation.
  • Belongs to the mastermind family.
  • The C-terminal domain is required for transcriptional activation.
  • Belongs to the mastermind family.
genes like me logo Genes that share domains with MAML2: view

No data available for Gene Families for MAML2 Gene

Function for MAML2 Gene

Molecular function for MAML2 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3.
genes like me logo Genes that share phenotypes with MAML2: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MAML2 Gene

Localization for MAML2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAML2 Gene

Nucleus speckle. Note=Nuclear, in a punctate manner.

Subcellular locations from

Jensen Localization Image for MAML2 Gene COMPARTMENTS Subcellular localization image for MAML2 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MAML2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with MAML2: view

Pathways & Interactions for MAML2 Gene

genes like me logo Genes that share pathways with MAML2: view

Pathways by source for MAML2 Gene

1 KEGG pathway for MAML2 Gene
1 R&D Systems pathway for MAML2 Gene
1 Qiagen pathway for MAML2 Gene

Interacting Proteins for MAML2 Gene

Selected Interacting proteins: Q8IZL2-MAML2_HUMAN for MAML2 Gene via I2D

SIGNOR curated interactions for MAML2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MAML2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007219 Notch signaling pathway IEA,TAS --
GO:0007221 positive regulation of transcription of Notch receptor target IBA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA,IDA 12370315
genes like me logo Genes that share ontologies with MAML2: view

Drugs & Compounds for MAML2 Gene

No Compound Related Data Available

Transcripts for MAML2 Gene

Unigene Clusters for MAML2 Gene

Mastermind-like 2 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MAML2 Gene

No ASD Table

Relevant External Links for MAML2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MAML2 Gene

mRNA expression in normal human tissues for MAML2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAML2 Gene

This gene is overexpressed in CD8 Tcells (28.0), Peripheral blood mononuclear cells (26.8), and Placenta (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAML2 Gene

SOURCE GeneReport for Unigene cluster for MAML2 Gene Hs.745167

mRNA Expression by UniProt/SwissProt for MAML2 Gene

Tissue specificity: Widely expressed with high levels detected in placenta, salivary gland and skeletal muscle.
genes like me logo Genes that share expression patterns with MAML2: view

Protein tissue co-expression partners for MAML2 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for MAML2 Gene

Orthologs for MAML2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAML2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MAML2 36
  • 87 (a)
(Canis familiaris)
Mammalia MAML2 36
  • 86 (a)
(Monodelphis domestica)
Mammalia MAML2 36
  • 72 (a)
(Mus musculus)
Mammalia Maml2 36
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 63 (a)
-- 36
  • 63 (a)
(Pan troglodytes)
Mammalia ptr-mir-1260b 36
  • 98 (a)
(Gallus gallus)
Aves MAML2 36
  • 61 (a)
(Anolis carolinensis)
Reptilia MAML2 36
  • 54 (a)
(Danio rerio)
Actinopterygii CABZ01085858.1 36
  • 31 (a)
MAML2 (1 of 2) 36
  • 30 (a)
Species with no ortholog for MAML2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAML2 Gene

Gene Tree for MAML2 (if available)
Gene Tree for MAML2 (if available)

Paralogs for MAML2 Gene

Paralogs for MAML2 Gene

(4) SIMAP similar genes for MAML2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MAML2: view

Variants for MAML2 Gene

Sequence variations from dbSNP and Humsavar for MAML2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs7123133 - 95,979,733(+) CTTTG(G/T)GTTTC reference, missense
rs518812 -- 96,285,929(+) caaag(A/T)tctag intron-variant
rs519146 -- 96,171,335(+) CTCTG(C/T)CTTAT intron-variant
rs519265 -- 96,139,253(+) CGGGC(A/G)GATCA intron-variant
rs520400 -- 96,005,773(+) TTCTA(A/C)CAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAML2 Gene

Variant ID Type Subtype PubMed ID
nsv468797 CNV Loss 19166990
esv2744941 CNV Deletion 23290073
esv2741034 CNV Deletion 23290073
esv2658561 CNV Deletion 23128226
nsv819086 CNV Loss 19587683
dgv34n17 CNV Loss 16327808
esv2422272 CNV Deletion 17116639
esv2560136 CNV Insertion 19546169
esv2671006 CNV Deletion 23128226
nsv39583 CNV Loss 16902084
esv271634 CNV Insertion 20981092
nsv898191 CNV Gain 21882294
esv2304443 CNV Deletion 18987734
nsv482989 CNV Gain 15286789
esv2666315 CNV Deletion 23128226
dgv80n21 CNV Loss 19592680
nsv468798 CNV Loss 19166990
dgv234e199 CNV Deletion 23128226
nsv516311 CNV Loss 19592680
esv2609509 CNV Deletion 19546169
esv2744943 CNV Deletion 23290073
esv2012527 CNV Deletion 18987734
esv8752 CNV Loss 19470904
nsv826046 CNV Loss 20364138
dgv235e199 CNV Deletion 23128226
nsv39676 CNV Loss 16902084
esv24759 CNV Loss 19812545

Variation tolerance for MAML2 Gene

Residual Variation Intolerance Score: 86.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.65; 78.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAML2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAML2 Gene

Disorders for MAML2 Gene

MalaCards: The human disease database

(22) MalaCards diseases for MAML2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • hidradenoma morphology
mucoepidermoid carcinoma
  • mec
clear cell hidradenoma
  • eccrine acrospiroma
warthin tumor
  • papillary cystadenoma lymphomatosum
thymus mucoepidermoid carcinoma
  • mucoepidermoid carcinoma of the thymus
- elite association - COSMIC cancer census association via MalaCards
Search MAML2 in MalaCards View complete list of genes associated with diseases


  • Note=A chromosomal aberration involving MAML2 is found in mucoepidermoid carcinomas, benign Warthin tumors and clear cell hidradenomas. Translocation t(11;19)(q21;p13) with CRTC1. The fusion protein consists of the N-terminus of CRTC1 joined to the C-terminus of MAML2. The reciprocal fusion protein consisting of the N-terminus of MAML2 joined to the C-terminus of CRTC1 has been detected in a small number of mucoepidermoid carcinomas. {ECO:0000269 PubMed:15729701}.

Relevant External Links for MAML2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MAML2: view

No data available for Genatlas for MAML2 Gene

Publications for MAML2 Gene

  1. Identification of new human mastermind proteins defines a family that consists of positive regulators for Notch signaling. (PMID: 12386158) Lin S.-E. … Kitagawa M. (J. Biol. Chem. 2002) 2 3 4 67
  2. Frequent fusion of the CRTC1 and MAML2 genes in clear cell variants of cutaneous hidradenomas. (PMID: 17334997) Winnes M. … Stenman G. (Genes Chromosomes Cancer 2007) 3 23
  3. Identification of a novel fusion gene MLL-MAML2 in secondary acute myelogenous leukemia and myelodysplastic syndrome with inv(11)(q21q23). (PMID: 17551948) Nemoto N. … Nagasawa T. (Genes Chromosomes Cancer 2007) 3 23
  4. Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. (PMID: 12370315) Wu L. … Griffin J.D. (Mol. Cell. Biol. 2002) 2 3
  5. Salivary mucoepidermoid carcinoma revisited. (PMID: 24771140) Coca-Pelaz A. … Ferlito A. (Eur Arch Otorhinolaryngol 2015) 3

Products for MAML2 Gene

Sources for MAML2 Gene