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Aliases for MAML2 Gene

Aliases for MAML2 Gene

  • Mastermind Like Transcriptional Coactivator 2 2 3 5
  • Mam-2 3 4
  • Mastermind (Drosophila)-Like 2 2
  • Mastermind-Like 2 (Drosophila) 2
  • Mastermind-Like Protein 2 3
  • 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 HIV Life Cycle and Notch signaling pathway (KEGG). GO annotations related to this gene include transcription coactivator activity. An important paralog of this gene is MAML3.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F096241 0.9 FANTOM5 Ensembl ENCODE 25.1 +100.3 100345 3.8 HDGF ARNT CREB3L1 ARID4B SIN3A FEZF1 YY1 FOS SP3 SP5 MAML2 FAM76B CCDC82 JRKL GC11P096202 GC11M096338
GH11F096252 1.3 FANTOM5 Ensembl ENCODE 24.1 +86.2 86245 9.2 PKNOX1 ATF1 SIN3A YY1 ZNF766 GATA2 FOS JUNB TBX21 CREB3 MAML2 CCDC82 FAM76B JRKL GC11P096202 GC11M096338
GH11F096262 1.3 FANTOM5 Ensembl ENCODE 22 +77.7 77688 6.7 PKNOX1 TBL1XR1 RFX5 GATA2 CBX5 SCRT2 RCOR1 ETV6 FOS CREM MAML2 CCDC82 FAM76B JRKL GC11P096202 GC11M096338
GH11F096337 1.3 FANTOM5 ENCODE 18.2 +2.8 2780 6.9 HDGF ATF1 PKNOX1 WRNIP1 SIN3A ARID4B ZNF48 GATA2 ZNF143 FOS MAML2 FAM76B CCDC82 JRKL GC11M096338 MIR1260B
GH11F096011 1.5 FANTOM5 Ensembl ENCODE 16.1 +329.1 329077 5.9 PKNOX1 ATF1 MLX WRNIP1 SIN3A ARID4B FEZF1 DMAP1 ZNF48 SLC30A9 MAML2 FAM76B LOC101929295 CCDC82 GC11M095989 GC11P096202
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MAML2 on UCSC Golden Path with GeneCards custom track

Promoters for MAML2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000186827 1245 3601 HDGF WRNIP1 SIN3A ARID4B ZNF48 ZNF143 FOS KDM4B DEK GTF2B

Genomic Location for MAML2 Gene

Chromosome:
11
Start:
95,976,204 bp from pter
End:
96,343,245 bp from pter
Size:
367,042 bases
Orientation:
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:
    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

Post-translational modifications for MAML2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAML2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MAML2 (MAML2)
  • Abcam antibodies for MAML2
  • Santa Cruz Biotechnology (SCBT) Antibodies for MAML2

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

Q8IZL2

UniProtKB/Swiss-Prot:

MAML2_HUMAN :
  • The C-terminal domain is required for transcriptional activation.
  • Belongs to the mastermind family.
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
genes like me logo Genes that share phenotypes with MAML2: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
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:0005634 nucleus IEA,IDA 12370315
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 & Interactions for MAML2 Gene

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

Pathways by source for MAML2 Gene

Interacting Proteins for MAML2 Gene

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

SIGNOR curated interactions for MAML2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MAML2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007219 Notch signaling pathway TAS --
GO:0007221 positive regulation of transcription of Notch receptor target IBA --
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:

Inhibitory RNA Products

Flow Cytometry Products

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

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



Protein tissue co-expression partners for MAML2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAML2 Gene:

MAML2

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 expression patterns with MAML2: view

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
chimpanzee
(Pan troglodytes)
Mammalia ptr-mir-1260b 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAML2 35
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAML2 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Maml2 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAML2 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 63 (a)
OneToMany
-- 35
  • 63 (a)
OneToMany
chicken
(Gallus gallus)
Aves MAML2 35
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAML2 35
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CABZ01085858.1 35
  • 31 (a)
OneToMany
MAML2 (1 of 2) 35
  • 30 (a)
OneToMany
Species where no ortholog for MAML2 was found in the sources mined by GeneCards:
  • 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

(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
rs1010730 -- 96,036,966(-) TACTC(C/T)GCTTT intron-variant
rs1010731 -- 96,036,883(-) AACCC(A/C)CTGGT intron-variant
rs1010732 -- 96,036,839(-) TTTAA(A/G)TTAGC intron-variant
rs10219219 -- 96,245,762(+) tgcag(C/T)ggtgc intron-variant
rs10219283 -- 96,098,807(+) AATCC(A/T)GCACA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1254n100 CNV loss 25217958
dgv2105n54 CNV loss 21841781
dgv234e199 CNV deletion 23128226
dgv235e199 CNV deletion 23128226
dgv34n17 CNV loss 16327808
dgv409e212 CNV loss 25503493
dgv80n21 CNV loss 19592680
esv2012527 CNV deletion 18987734
esv2304443 CNV deletion 18987734
esv2422272 CNV deletion 17116639
esv24759 CNV loss 19812545
esv2560136 CNV insertion 19546169
esv2609509 CNV deletion 19546169
esv2658561 CNV deletion 23128226
esv2666315 CNV deletion 23128226
esv2671006 CNV deletion 23128226
esv2741034 CNV deletion 23290073
esv2744941 CNV deletion 23290073
esv2744943 CNV deletion 23290073
esv3307358 CNV mobile element insertion 20981092
esv3434387 CNV insertion 20981092
esv3435664 CNV duplication 20981092
esv3548193 CNV deletion 23714750
esv3548194 CNV deletion 23714750
esv3579858 CNV loss 25503493
esv3579863 CNV loss 25503493
esv3579864 CNV loss 25503493
esv3627366 CNV loss 21293372
esv3627367 CNV loss 21293372
esv3627369 CNV loss 21293372
esv3627373 CNV loss 21293372
esv3627374 CNV loss 21293372
esv3627376 CNV loss 21293372
esv3627377 CNV loss 21293372
esv8752 CNV loss 19470904
nsv1111061 CNV tandem duplication 24896259
nsv1119903 CNV deletion 24896259
nsv1143693 CNV deletion 24896259
nsv1145564 CNV deletion 24896259
nsv1159922 CNV deletion 26073780
nsv39583 CNV deletion 16902084
nsv39676 CNV deletion 16902084
nsv468797 CNV loss 19166990
nsv468798 CNV loss 19166990
nsv473492 CNV novel sequence insertion 20440878
nsv477693 CNV novel sequence insertion 20440878
nsv482989 CNV gain 15286789
nsv516311 CNV loss 19592680
nsv555968 CNV loss 21841781
nsv555969 CNV loss 21841781
nsv555970 CNV loss 21841781
nsv555971 CNV loss 21841781
nsv555975 CNV loss 21841781
nsv819086 CNV loss 19587683
nsv826046 CNV loss 20364138

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)
MAML2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAML2

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

Disorders for MAML2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hidradenoma
  • hidradenoma morphology
mucoepidermoid carcinoma
  • mec
clear cell hidradenoma
  • eccrine acrospiroma
warthin tumor
  • adenolymphoma
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

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. 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)
MAML2
Human Genome Epidemiology (HuGE) Navigator
MAML2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAML2
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 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 64
  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 64
  3. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PMID: 21658281) Aouizerat B.E. … Tseng Z.H. (BMC Cardiovasc Disord 2011) 3 46 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia. (PMID: 19176441) Yang J.J. … Relling M.V. (JAMA 2009) 3 46 64

Products for MAML2 Gene

Sources for MAML2 Gene

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