NELL2 Gene Summary [Human]
The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009]
Details
| Type | Protein Coding |
| Official Symbol | NELL2 |
| Official Name | neural EGFL like 2 [Source:HGNC Symbol;Acc:HGNC:7751] |
| Ensembl ID | ENSG00000184613 |
| Bio databases IDs | |
| Aliases | neural EGFL like 2 |
| Synonyms | A330108N19Rik, LOC100365444, LOC681834, mel91, NEL-like 2, neural EGFL like 2, NRP2 |
| Species | Human, Homo sapiens |
| Orthologies |
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 NELL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Concanavalin A-like lectin/glucanases superfamily
- von Willebrand factor type C domain
- LamG
- protein kinase C binding
- calcium ion binding
- EGF domain
- protein binding
- heparin binding
- identical protein binding
- laminin G domain
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- idiopathic scoliosis
- systemic autoimmune syndrome
- Wilms tumor
- Wilms tumorigenesis
- septic shock
- sepsis
- anaplastic thyroid carcinoma
- anaplastic thyroid cancer
- epithelial thyroid cancer
- schizophrenia
regulates
- ERK1/2
- hormone
- N-cadherin
- ROBO3
role in cell
- survival
- phosphorylation in
- long-term potentiation
- fertilization
- homeostasis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Cytoplasm
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NELL2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuron homeostasis
- fertilization
- commissural neuron axon guidance
Cellular Component
Where in the cell the gene product is active
- extracellular space
- cytoplasm
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein kinase C binding
- identical protein binding
- protein binding
- calcium ion binding
- heparin binding