ADHDgene Database
  • Published Variant
  • Published Gene: 359
  • Published Region: 128
  • Pathway by PBA: 8
  • Study: 361

KEGG Pathway Report

Basic Info
ID hsa04330
Name Notch signaling pathway
Description  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.
No. of Genes in ADHDgene  8
Source Pathway by Database Search

Pathway related genes in ADHDgene (count: 8)

Literature-origin genes (count: 1)

Approved Symbol Approved Name Location No. of Studies (significant/non-significant/trend)
HES1 hairy and enhancer of split 1, (Drosophila) 3q28-q29 1(1/0/0)

Genes from other sources Help(count: 7)

Approved Symbol Approved Name Location Source
ADAM17 ADAM metallopeptidase domain 17 2p25 Mapped by significant region
MAML1 mastermind-like 1 (Drosophila) 5q35 Mapped by CNV
MAML2 mastermind-like 2 (Drosophila) 11q Mapped by significant region
DTX4 deltex homolog 4 (Drosophila) 11q12.2 Mapped by significant region
SNW1 SNW domain containing 1 14q22.1-q22.3 Mapped by PBA pathway
RBPJ recombination signal binding protein for immunoglobulin kappa J region 4p15.2 Mapped by CNV
NCOR2 nuclear receptor corepressor 2 12q24 Mapped by CNV