NOTCH4 Gene Summary [Human]

This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

Details

Type
Retained Intron
Official Symbol
NOTCH4
Official Name
notch receptor 4 [Source:HGNC Symbol;Acc:HGNC:7884]
Ensembl ID
ENSG00000204301
Bio databases IDs NCBI: 4855 Ensembl: ENSG00000204301
Aliases notch receptor 4
Synonyms INT3, LOC224712, N4, notch receptor 4
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NOTCH4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
  • transcription regulator
  • Ankyrin repeats (many copies)
  • JMTM_Notch_APP
  • RAM domain
  • signaling receptor activity
  • nucleic acid binding
  • ectodomain
  • Human growth factor-like EGF
  • LNR domain
  • calcium ion binding
  • Ankyrin repeats (3 copies)
  • protein binding
  • sequence-specific DNA binding
  • Ankyrin repeat
  • EGF_CA
  • NOTCH protein
  • cytoplasmic domain
  • double-stranded DNA binding
  • intracellular domain
  • EGF domain
  • ankyrin repeats
  • notch binding

Pathways

Biological processes and signaling networks where the NOTCH4 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • chronic interstitial cystitis
  • multiple sclerosis
  • epithelial cancer
  • liver cancer
  • neoplasia
  • hepatocellular carcinoma
  • Takayasu arteritis
  • Alzheimer disease
  • asthma
  • COVID-19
regulated by
  • AGT
  • VEGF
  • LEP
  • beta-estradiol
  • NOTCH4 mRNA:miR-181C RISC
  • TNF
  • PTEN
  • 1-(ethylthio)-4-(2-phenylethyl)-4H-spiro[benzo[h][1,2,4]triazolo[4,3-a]quinazoline-6,1'-cyclohexan]-5(7H)-one
  • SCF/FBXW7
  • NOTCH4
regulates
  • DNA promoter
  • DNA endogenous promoter
  • IL6
  • agar
  • NFkB (complex)
  • CDKN1B
  • reporter gene
  • synthetic promoter
  • ITGB1
  • CNN1
role in cell
  • expression in
  • apoptosis
  • growth
  • phosphorylation in
  • proliferation
  • morphogenesis
  • production in
  • differentiation
  • activation in
  • transactivation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • Cytoplasm
  • cell surface
  • Extracellular Space
  • perinuclear region
  • cellular membrane
  • Nucleus
  • Endoplasmic Reticulum
  • cytosol
  • endoplasmic reticulum membrane
  • Golgi membrane
  • nucleoplasm
  • cytoplasmic vesicles

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NOTCH4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of cell adhesion molecule production
  • hemopoiesis
  • positive regulation of transcription of Notch receptor target
  • positive regulation of transcription from RNA polymerase II promoter
  • negative regulation of endothelial cell differentiation
  • negative regulation of transcription from RNA polymerase II promoter
  • morphogenesis of a branching structure
  • mammary gland development
  • wound healing
  • patterning of blood vessels
  • positive regulation of transcription, DNA-dependent
  • negative regulation of cell differentiation
  • vasculature development
  • positive regulation of smooth muscle cell differentiation
  • cell differentiation
  • epithelial to mesenchymal transition
  • cell fate determination
  • negative regulation of cell-cell adhesion mediated by cadherin

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • nucleus
  • cytosol
  • Golgi membrane
  • extracellular region
  • plasma membrane
  • nucleoplasm
  • cell surface

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • calcium ion binding
  • signaling receptor activity
  • core promoter proximal region sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
  • Notch binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.