NEXN Gene Summary [Human]
This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
Details
| Type | Protein Coding |
| Official Symbol | NEXN |
| Official Name | nexilin F-actin binding protein [Source:HGNC Symbol;Acc:HGNC:29557] |
| Ensembl ID | ENSG00000162614 |
| Bio databases IDs | |
| Aliases | nexilin F-actin binding protein |
| Synonyms | 1110046H09Rik, AF056034, Autoantigen Q16081, CMH20, LOC246172, NELIN, NEXILIN, nexilin (F actin binding protein), nexilin F-actin binding protein |
| 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 NEXN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- actin filament binding
- F-actin binding domain
- structural constituent of muscle
- immunoglobulin domain
- Immunoglobulin like
- Immunoglobulin I-set domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertrophic cardiomyopathy
- atherosclerosis
- organismal death
- Waldenström macroglobulinemia
- dilated cardiomyopathy type 1CC
- familial hypertrophic cardiomyopathy type 20
- primary dilated cardiomyopathy
- dilated cardiomyopathy
- cardiac hypertrophy
- dilated cardiomyopathy 1S
role in cell
- migration
- hypertrophy
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
- cell junction
- focal adhesions
- actin cytoskeleton
- Z line
- actin stress fibers
- cell-matrix adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NEXN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cytoskeleton organization
- dendrite self-avoidance
- axon guidance
- homophilic cell adhesion
- regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- Z disc
- adherens junction
- focal adhesion
- actin cytoskeleton
- axon
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- structural constituent of muscle