ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	MAML2
Symbol Alias	KIAA1819, MAM3
Approved Name	mastermind-like 2 (Drosophila)
Previous Name	mastermind (Drosophila)-like 2
Location	11q
Position	chr11:95709762-96076382, -
External Links	HGNC: 16259 Entrez Gene: 84441 Ensembl: ENSG00000184384 UCSC: uc001pfw.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 9)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0007219	Notch signaling pathway	Biological Process	IDA[12370315]	21
GO:0006367	transcription initiation from RNA polymerase II promoter	Biological Process		42
GO:0005794	Golgi apparatus	Cellular Component		157
GO:0005654	nucleoplasm	Cellular Component		183
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process	IDA[12370315]	131
GO:0016607	nuclear speck	Cellular Component		34
GO:0010467	gene expression	Biological Process		140
GO:0005634	nucleus	Cellular Component		770
GO:0003713	transcription coactivator activity	Molecular Function	IDA[12370315]	52

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04330	Notch signaling pathway	8	The Notch signaling pathway is an evolutionarily conserved, ...... The Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch proteins (Notch1-Notch4 in vertebrates) are single-pass receptors that are activated by the Delta (or Delta-like) and Jagged/Serrate families of membrane-bound ligands. They are transported to the plasma membrane as cleaved, but otherwise intact polypeptides. Interaction with ligand leads to two additional proteolytic cleavages that liberate the Notch intracellular domain (NICD) from the plasma membrane. The NICD translocates to the nucleus, where it forms a complex with the DNA binding protein CSL, displacing a histone deacetylase (HDAc)-co-repressor (CoR) complex from CSL. Components of an activation complex, such as MAML1 and histone acetyltransferases (HATs), are recruited to the NICD-CSL complex, leading to the transcriptional activation of Notch target genes. More...

Genes shared at least 5 GO terms with MAML2 (count: 23)

Gene Symbol	Pathway Count	Pathway List
MAML1	8	Notch signaling pathway; transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; nuclear speck; gene expression; nucleus; transcription coactivator activity;
SNW1	7	Notch signaling pathway; transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression; nucleus; transcription coactivator activity;
RBPJ	6	Notch signaling pathway; transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression; nucleus;
MED1	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression; nucleus; transcription coactivator activity;
MED12	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression; nucleus; transcription coactivator activity;
MED13	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression; nucleus; transcription coactivator activity;
MED14	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression; nucleus; transcription coactivator activity;
MED17	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression; nucleus; transcription coactivator activity;
NR5A1	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression; nucleus; transcription coactivator activity;
YAP1	6	transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression; nucleus; transcription coactivator activity;
PRPF6	6	nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; nuclear speck; gene expression; nucleus; transcription coactivator activity;
NCOR1	5	Notch signaling pathway; transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; nucleus;
NCOR2	5	Notch signaling pathway; transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; nucleus;
UBB	5	Notch signaling pathway; transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression;
UBC	5	Notch signaling pathway; transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression;
ESRRA	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression; nucleus;
MED15	5	transcription initiation from RNA polymerase II promoter; Golgi apparatus; nucleoplasm; gene expression; nucleus;
MED16	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; nucleus; transcription coactivator activity;
MEN1	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression; nucleus;
NCOA6	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; nucleus; transcription coactivator activity;
NR4A2	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression; nucleus;
TAF10	5	transcription initiation from RNA polymerase II promoter; nucleoplasm; gene expression; nucleus; transcription coactivator activity;
MAPK3	5	Golgi apparatus; nucleoplasm; positive regulation of transcription from RNA polymerase II promoter; gene expression; nucleus;

Genes shared at least 2 KEGG pathways with MAML2 (count: 0)

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Region: chr11:95709762..96076382 View in gBrowse