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Aliases for MAML2 Gene

Aliases for MAML2 Gene

  • Mastermind-Like 2 (Drosophila) 2 3
  • MAM-2 3 4
  • MAM3 3 6
  • Mastermind (Drosophila)-Like 2 2
  • Mastermind-Like Protein 2 3
  • MLL-MAML2 3
  • KIAA1819 4
  • Mam-3 3
  • MAM2 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 2 (Drosophila)) is a Protein Coding gene. Diseases associated with MAML2 include cutaneous mucoepidermoid carcinoma and lacrimal gland cancer. Among its related pathways are Signaling by GPCR and Disease. 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

Genomic Location for MAML2 Gene

Start:
95,976,593 bp from pter
End:
96,343,180 bp from pter
Size:
366,588 bases
Orientation:
Minus strand

Genomic View for MAML2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q8IZL2-MAML2_HUMAN
    Recommended name:
    Mastermind-like protein 2
    Protein Accession:
    Q8IZL2
    Secondary Accessions:
    • A7MD26
    • Q6AI23
    • Q6Y3A3
    • Q8IUL3
    • Q96JK6

    Protein attributes for MAML2 Gene

    Size:
    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.
    SequenceCaution:
    • 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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MAML2 Gene

Domains for MAML2 Gene

Protein Domains for MAML2 Gene

Suggested Antigen Peptide Sequences for MAML2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IZL2

UniProtKB/Swiss-Prot:

MAML2_HUMAN :
  • Q8IZL2
Domain:
  • The C-terminal domain is required for transcriptional activation
Family:
  • 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.

Gene Ontology (GO) - Molecular Function for MAML2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IDA 12370315
genes like me logo Genes that share ontologies with MAML2: view

Phenotypes for MAML2 Gene

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

miRNA for MAML2 Gene

miRTarBase miRNAs that target MAML2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for MAML2 Gene COMPARTMENTS Subcellular localization image for MAML2 gene
Compartment Confidence
nucleus 5
golgi apparatus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for MAML2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005794 Golgi apparatus IDA --
GO:0016607 nuclear speck IEA --
genes like me logo Genes that share ontologies with MAML2: view

Pathways for MAML2 Gene

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

Pathways by source for MAML2 Gene

1 Qiagen pathway for MAML2 Gene
1 Cell Signaling Technology pathway for MAML2 Gene

Interacting Proteins for MAML2 Gene

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

Gene Ontology (GO) - Biological Process for MAML2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007219 Notch signaling pathway TAS --
GO:0010467 gene expression TAS --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 12370315
genes like me logo Genes that share ontologies with MAML2: view

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
MAML2
ECgene alternative splicing isoforms for
MAML2

Expression for MAML2 Gene

mRNA expression in normal human tissues for MAML2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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

Q8IZL2-MAML2_HUMAN
Tissue specificity: Widely expressed with high levels detected in placenta, salivary gland and skeletal muscle.
genes like me logo Genes that share expressions with MAML2: view

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
chimpanzee
(Pan troglodytes)
Mammalia ptr-mir-1260b 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAML2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAML2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Maml2 16
Maml2 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAML2 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 63 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
chicken
(Gallus gallus)
Aves MAML2 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAML2 36
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CABZ01085858.1 36
  • 31 (a)
OneToMany
MAML2 (1 of 2) 36
  • 30 (a)
OneToMany
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

ENSEMBL:
Gene Tree for MAML2 (if available)
TreeFam:
Gene Tree for MAML2 (if available)

Paralogs for MAML2 Gene

Paralogs for MAML2 Gene

Selected 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 MAF
rs62028 -- 96,000,075(+) TGCTC(A/C)AAGTT intron-variant
rs89838 -- 96,313,967(-) CTTCA(C/G)GGGAT intron-variant
rs470141 -- 96,206,672(-) GTCTG(A/G)AAAGC intron-variant
rs473162 -- 96,238,156(+) TTTAG(C/T)TGGGG intron-variant
rs473445 -- 96,285,966(-) agtaa(C/T)gggat 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

Relevant External Links for MAML2 Gene

HapMap Linkage Disequilibrium report
MAML2
Human Gene Mutation Database (HGMD)
MAML2

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

Disorders for MAML2 Gene

UniProtKB/Swiss-Prot

MAML2_HUMAN
  • 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/MECT1. 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.

(4) Novoseek inferred disease relationships for MAML2 Gene

Disease -log(P) Hits PubMed IDs
hidradenoma 86.5 2
carcinoma mucoepidermoid 72.5 2
carcinoma 17.4 1
tumors 11 2

Relevant External Links for MAML2

Genetic Association Database (GAD)
MAML2
Human Genome Epidemiology (HuGE) Navigator
MAML2
genes like me logo Genes that share disorders with MAML2: view

Publications for MAML2 Gene

  1. 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 4
  2. 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
  3. 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
  4. 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
  5. t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway. (PMID: 12539049) Tonon G. … Kaye F.J. (Nat. Genet. 2003) 3 4

Products for MAML2 Gene

Sources for MAML2 Gene

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