Aliases for MAML3 Gene

Aliases for MAML3 Gene

  • Mastermind Like Transcriptional Coactivator 3 2 3 5
  • Trinucleotide Repeat Containing 3 2 3
  • Mastermind-Like Protein 3 3 4
  • KIAA1816 2 4
  • CAGH3 2 3
  • Mam-3 3 4
  • MAM2 2 3
  • GDN 2 3
  • CAG Repeat Containing (Glia-Derived Nexin I Alpha) 3
  • Expanded Repeat Domain, CAG/CTG 3 3
  • Mastermind (Drosophila)-Like 3 2
  • Mastermind-Like 3 (Drosophila) 2
  • Polyglutamine Rich 3
  • ERDA3 3
  • MAM-2 3
  • TNRC3 3
  • MAML3 5

External Ids for MAML3 Gene

Previous HGNC Symbols for MAML3 Gene

  • TNRC3

Previous GeneCards Identifiers for MAML3 Gene

  • GC04U900023
  • GC04M141105
  • GC04M141217
  • GC04M141216
  • GC04M140996
  • GC04M140856
  • GC04M140637
  • GC04M136366

Summaries for MAML3 Gene

GeneCards Summary for MAML3 Gene

MAML3 (Mastermind Like Transcriptional Coactivator 3) is a Protein Coding gene. Diseases associated with MAML3 include Schneiderian Carcinoma and Ossifying Fibromyxoid Tumor. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity. An important paralog of this gene is MAML1.

UniProtKB/Swiss-Prot Summary for MAML3 Gene

  • Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAML3 Gene

Genomics for MAML3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MAML3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J140148 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 267.6 +2.5 2541 7.1 ZSCAN16 CHD2 ZBTB10 SP1 FEZF1 MNT SMAD5 ETS1 IRF2 ZNF217 MAML3 lnc-CLGN-5 ELF2 ELMOD2 ENSG00000250698 HSALNG0037472 MGST2
GH04J140523 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 24.7 -370.3 -370317 2.2 CHD2 TBP ZBTB10 SP1 NR2C1 MNT SMAD5 ETS1 MBD2 ZNF217 ELMOD2 NONHSAG038968.2 MAML3 CLGN UCP1
GH04J140155 Enhancer 0.2 ENCODE 250.7 -1.8 -1798 0.2 MAML3 HSALNG0037473 SCOC
GH04J140087 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 23.3 +59.8 59760 14.5 ZBTB10 FEZF1 BRCA1 ZEB1 ZIC2 ZNF610 CEBPB ZNF513 ZNF639 EP300 lnc-SCOC-3 MAML3 ENSG00000250698 ELF2 lnc-CLGN-2 MGST2
GH04J139663 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 14 +487.1 487088 7.4 TBP MXD4 CEBPA NR2C1 MNT IKZF1 SMAD5 ETS1 IRF2 BHLHE40 MGST2 NONHSAG038956.2 SETD7 ELMOD2 MAML3 ELF2 RF00100-102 RN7SKP237 lnc-MAML3-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAML3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAML3

Top Transcription factor binding sites by QIAGEN in the MAML3 gene promoter:
  • c-Ets-1
  • CREB
  • Elk-1
  • FOXF2
  • FOXO1
  • FOXO1a
  • HTF
  • Lmo2
  • YY1

Genomic Locations for MAML3 Gene

Latest Assembly
chr4:139,716,753-140,154,184
(GRCh38/hg38)
Size:
437,432 bases
Orientation:
Minus strand

Previous Assembly
chr4:140,637,907-141,075,338
(GRCh37/hg19 by Entrez Gene)
Size:
437,432 bases
Orientation:
Minus strand

chr4:140,637,907-141,075,338
(GRCh37/hg19 by Ensembl)
Size:
437,432 bases
Orientation:
Minus strand

Genomic View for MAML3 Gene

Genes around MAML3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAML3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAML3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAML3 Gene

Proteins for MAML3 Gene

  • Protein details for MAML3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JK9-MAML3_HUMAN
    Recommended name:
    Mastermind-like protein 3
    Protein Accession:
    Q96JK9
    Secondary Accessions:
    • B2RNU9
    • B3KVV7
    • E7EVW8

    Protein attributes for MAML3 Gene

    Size:
    1138 amino acids
    Molecular mass:
    122293 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=BAB47445.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG53919.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for MAML3 Gene

Post-translational modifications for MAML3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAML3 Gene

Antibodies for research

  • Abcam antibodies for MAML3
  • Boster Bio Antibodies for MAML3

No data available for DME Specific Peptides for MAML3 Gene

Domains & Families for MAML3 Gene

Gene Families for MAML3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAML3 Gene

Suggested Antigen Peptide Sequences for MAML3 Gene

GenScript: Design optimal peptide antigens:
  • Mastermind-like protein 3 (MAML3_HUMAN)
  • CAGH3 (O15415_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96JK9

UniProtKB/Swiss-Prot:

MAML3_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 MAML3: view

Function for MAML3 Gene

Molecular function for MAML3 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1.

Phenotypes From GWAS Catalog for MAML3 Gene

Gene Ontology (GO) - Molecular Function for MAML3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IBA,IDA 12370315
genes like me logo Genes that share ontologies with MAML3: view
genes like me logo Genes that share phenotypes with MAML3: view

Animal Models for MAML3 Gene

MGI Knock Outs for MAML3:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAML3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAML3 Gene

Localization for MAML3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAML3 Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAML3 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAML3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 12370315
GO:0005654 nucleoplasm TAS --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with MAML3: view

Pathways & Interactions for MAML3 Gene

genes like me logo Genes that share pathways with MAML3: view

SIGNOR curated interactions for MAML3 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for MAML3 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:0007221 positive regulation of transcription of Notch receptor target IBA,TAS --
GO:0045747 positive regulation of Notch signaling pathway TAS --
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 12370315
genes like me logo Genes that share ontologies with MAML3: view

Drugs & Compounds for MAML3 Gene

No Compound Related Data Available

Transcripts for MAML3 Gene

mRNA/cDNA for MAML3 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAML3

Alternative Splicing Database (ASD) splice patterns (SP) for MAML3 Gene

No ASD Table

Relevant External Links for MAML3 Gene

GeneLoc Exon Structure for
MAML3

Expression for MAML3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAML3 Gene

Protein differential expression in normal tissues from HIPED for MAML3 Gene

This gene is overexpressed in Colon muscle (51.2) and Bone marrow mesenchymal stem cell (16.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAML3 Gene



Protein tissue co-expression partners for MAML3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAML3

SOURCE GeneReport for Unigene cluster for MAML3 Gene:

Hs.586165

Evidence on tissue expression from TISSUES for MAML3 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with MAML3: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAML3 Gene

Orthologs for MAML3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAML3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MAML3 30 31
  • 99.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MAML3 30 31
  • 87.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MAML3 30 31
  • 86.62 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Maml3 30 17 31
  • 86.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Maml3 30
  • 86.02 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MAML3 31
  • 81 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MAML3 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MAML3 30 31
  • 78.77 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MAML3 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia maml3 30
  • 69.96 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC101886283 30
  • 64.77 (n)
maml3 31
  • 47 (a)
OneToOne
Species where no ortholog for MAML3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MAML3 Gene

ENSEMBL:
Gene Tree for MAML3 (if available)
TreeFam:
Gene Tree for MAML3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAML3: view image

Paralogs for MAML3 Gene

Paralogs for MAML3 Gene

(3) SIMAP similar genes for MAML3 Gene using alignment to 5 proteins:

  • MAML3_HUMAN
  • E7ESR8_HUMAN
  • E7EVW8_HUMAN
  • H0Y2R5_HUMAN
  • H0Y920_HUMAN
genes like me logo Genes that share paralogs with MAML3: view

Variants for MAML3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAML3 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs58015886 Benign: not provided 139,889,909(-) T/TTGC
NM_018717.5(MAML3):c.1470_1472GCA[20] (p.Gln510dup)
INFRAME_INSERTION

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAML3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MAML3 Gene

Variant ID Type Subtype PubMed ID
dgv1030e214 CNV gain 21293372
esv2131682 CNV deletion 18987734
esv2662572 CNV deletion 23128226
esv2728428 CNV deletion 23290073
esv2728430 CNV deletion 23290073
esv2728431 CNV deletion 23290073
esv2728432 CNV deletion 23290073
esv2728433 CNV deletion 23290073
esv3303074 CNV tandem duplication 20981092
esv3305218 CNV mobile element insertion 20981092
esv3350274 CNV insertion 20981092
esv3387295 CNV insertion 20981092
esv3400863 CNV insertion 20981092
esv3449073 CNV insertion 20981092
esv3602439 CNV gain 21293372
esv3602440 CNV gain 21293372
esv3602444 CNV loss 21293372
esv3602447 CNV loss 21293372
esv3602448 CNV loss 21293372
esv3602449 OTHER inversion 21293372
esv3894041 CNV gain 25118596
nsv1017456 CNV gain 25217958
nsv1019522 CNV loss 25217958
nsv1074756 CNV deletion 25765185
nsv1125244 CNV insertion 24896259
nsv1125823 CNV tandem duplication 24896259
nsv1128102 CNV deletion 24896259
nsv290100 CNV deletion 16902084
nsv291396 CNV deletion 16902084
nsv292145 CNV deletion 16902084
nsv472268 CNV novel sequence insertion 20440878
nsv475277 CNV novel sequence insertion 20440878
nsv477694 CNV novel sequence insertion 20440878
nsv525242 CNV loss 19592680
nsv822749 CNV loss 20364138
nsv830087 CNV gain 17160897

Variation tolerance for MAML3 Gene

Residual Variation Intolerance Score: 83.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.56; 77.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAML3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAML3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAML3 Gene

Disorders for MAML3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MAML3 Gene - From: COP

Disorder Aliases PubMed IDs
schneiderian carcinoma
  • cylindrical cell carcinoma
ossifying fibromyxoid tumor
  • ossifying fibromyxoid tumour
kidney clear cell sarcoma
  • childhood kidney clear cell sarcoma
microphthalmia, syndromic 2
  • mcops2
adult fibrosarcoma
- elite association - COSMIC cancer census association via MalaCards
Search MAML3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MAML3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MAML3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAML3 Gene

Publications for MAML3 Gene

  1. Identification of new human mastermind proteins defines a family that consists of positive regulators for notch signaling. (PMID: 12386158) Lin SE … Kitagawa M (The Journal of biological chemistry 2002) 2 3 4
  2. Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. (PMID: 12370315) Wu L … Griffin JD (Molecular and cellular biology 2002) 2 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4

Products for MAML3 Gene

Sources for MAML3 Gene