NOTCH2 Gene Summary [Human]

This gene encodes a member of the Notch family. Members of this Type 1 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 family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

Details

Type
Protein Coding
Official Symbol
NOTCH2
Official Name
notch receptor 2 [Source:HGNC Symbol;Acc:HGNC:7882]
Ensembl ID
ENSG00000134250
Bio databases IDs NCBI: 4853 Ensembl: ENSG00000134250
Aliases notch receptor 2
Synonyms AGS2, AI853703, HJCYS, hN2, N2, Neurogenic locus notch homolog protein 2 precursor, notch receptor 2
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 NOTCH2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Family of unknown function (DUF5585)
  • transcription regulator
  • Ankyrin repeats (many copies)
  • JMTM_Notch_APP
  • RAM domain
  • Ankyrin repeat
  • EGF_CA
  • cytoplasmic domain
  • intracellular domain
  • RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
  • extracellular domain
  • nucleic acid binding
  • NF-kappaB binding
  • ectodomain
  • Human growth factor-like EGF
  • LNR domain
  • negative regulatory domain
  • enzyme binding
  • Ankyrin repeats (3 copies)
  • protein binding
  • sequence-specific DNA binding
  • EGF-like domain
  • NOTCH protein
  • double-stranded DNA binding
  • ICN1 domain
  • transmembrane domain

Pathways

Biological processes and signaling networks where the NOTCH2 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
  • experimental autoimmune encephalomyelitis
  • neoplasia
  • lung cancer
  • chronic myelomonocytic leukemia
  • pancreatic neoplasia
  • cancer
  • non-Hodgkin lymphoma
  • non-Hodgkin disease
  • systemic lupus erythematosus
  • sarcomatoid nasopharyngeal carcinoma
regulated by
regulates
role in cell
  • formation
  • binding
  • phosphorylation in
  • expression in
  • activation
  • production in
  • activation in
  • cell death
  • quantity
  • apoptosis

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
  • nuclear fraction
  • pH resistant lipid raft fraction
  • glutaminergic synapse
  • endoplasmic reticulum mitochondria contact site
  • Cytoplasm
  • cilia
  • cell surface
  • Extracellular Space
  • perinuclear region
  • cellular membrane
  • Nucleus
  • Golgi Apparatus
  • cytosol
  • endoplasmic reticulum membrane
  • synaptic membrane
  • Golgi membrane
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NOTCH2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • multicellular organism growth
  • hemopoiesis
  • nervous system development
  • axon guidance
  • positive regulation of Ras protein signal transduction
  • positive regulation of transcription from RNA polymerase II promoter
  • negative regulation of transcription from RNA polymerase II promoter
  • positive regulation of keratinocyte proliferation
  • embryonic limb morphogenesis
  • wound healing
  • marginal zone B cell differentiation
  • positive regulation of osteoclast differentiation
  • inflammatory response to antigenic stimulus
  • in utero embryonic development
  • BMP signaling pathway
  • myeloid dendritic cell differentiation
  • humoral immune response
  • apoptotic process
  • heart looping
  • regulation of osteoclast development
  • glomerular capillary formation
  • cell fate determination
  • left/right axis specification
  • intracellular signal transduction
  • placenta blood vessel development
  • bone remodeling
  • atrioventricular node development
  • pulmonary valve morphogenesis
  • morphogenesis of an epithelial sheet
  • defense response to bacterium
  • atrial septum morphogenesis
  • organ morphogenesis
  • positive regulation of BMP signaling pathway
  • negative regulation of gene expression
  • Notch signaling pathway
  • glomerular visceral epithelial cell development
  • proximal tubule development
  • hepatocyte proliferation
  • positive regulation of smooth muscle cell differentiation
  • negative regulation of apoptotic process
  • positive regulation of ERK1 and ERK2 cascade
  • positive regulation of apoptotic process
  • ciliary body morphogenesis
  • cellular response to tumor cell
  • intrahepatic bile duct development

Cellular Component

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

Molecular Function

What the gene product does at the molecular level
  • NF-kappaB binding
  • 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
  • enzyme binding

Gene-Specific Assays for Results You Can Trust

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