NGEF Gene Summary [Human]
Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including activation of GTPase activity; ephrin receptor signaling pathway; and negative regulation of dendritic spine morphogenesis. Predicted to be located in cytosol. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | NGEF |
| Official Name | neuronal guanine nucleotide exchange factor [Source:HGNC Symbol;Acc:HGNC:7807] |
| Ensembl ID | ENSG00000066248 |
| Bio databases IDs | |
| Aliases | neuronal guanine nucleotide exchange factor, ephexin, ephexin1 |
| Synonyms | ARHGEF27, BESH3, EPHEXIN, Ephexin1, neuronal guanine nucleotide exchange factor, Tims2 |
| 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 NGEF often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GEF domain
- RhoGEF
- guanyl-nucleotide exchange factor
- PH domain
- ephrin receptor binding
- protein binding
- Pleckstrin homology-like domain
- Dbl homology domain
- RhoGEF domain
- Src Homology 3 domain superfamily
Pathways
Biological processes and signaling networks where the NGEF 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
- lung cancer
- obesity
- schizophrenia
- Huntington disease
- Parkinson disease
- bipolar disorder
- colorectal cancer
- attention deficit hyperactivity disorder
- pervasive developmental disorder
- androgenic alopecia
role in cell
- expression in
- phosphorylation in
- binding in
- growth
- outgrowth
- remodeling
- morphogenesis
- collapse
- guidance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- glutaminergic synapse
- postsynaptic region
- cytosol
- growth cone
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NGEF gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of dendritic spine morphogenesis
- regulation of small GTPase mediated signal transduction
- regulation of GTPase activity
- ephrin receptor signaling pathway
- cell differentiation
- nervous system development
Cellular Component
Where in the cell the gene product is active
- growth cone
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity