SYNE2 Gene Summary [Human]
The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Details
| Type | Protein Coding |
| Official Symbol | SYNE2 |
| Official Name | spectrin repeat containing nuclear envelope protein 2 [Source:HGNC Symbol;Acc:HGNC:17084] |
| Ensembl ID | ENSG00000054654 |
| Bio databases IDs | |
| Aliases | spectrin repeat containing nuclear envelope protein 2, nuclear envelope spectrin repeat-2, nucleus and actin connecting element |
| Synonyms | 6820443O06RIK, AABR07064873.1, Cpfl8, D12Ertd777e, dice, EDMD5, KASH2, LOC102547773, LOC102551447, LOC625703, mKIAA1011, Nesp2, NESP2G, Nesprin-2, NUA, NUANCE, RGD1305248, spectrin repeat containing, nuclear envelope 2, spectrin repeat containing nuclear envelope protein 2, TROPH |
| 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 SYNE2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SPEC
- exonuclease SbcC
- Calponin homology domain
- nucleoplasmic domain
- protein binding activity, bridging
- protein binding
- chromosome segregation protein SMC, common bacterial type
- Spectrin repeats
- actin-binding domain
- actin binding
- KASH domain
- Spectrin repeat
- calponin homology (CH) domain superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- major depression
- arrhythmia
- sarcomatoid cancer
- nasopharyngeal cancer
- atrial fibrillation
- epithelial cancer
- cutaneous melanoma
- cutaneous melanoma cancer
- atrial flutter
- hereditary spastic ataxia
role in cell
- phosphorylation in
- migration
- proliferation
- polarization
- assembly
- abnormal morphology
- organization
- migration by
- localization
- signaling 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.
- Nucleus
- fibrillar center
- intermediate filament cytoskeleton
- Cytoplasm
- cilia
- focal adhesions
- sarcoplasmic reticulum
- Mitochondria
- sarcomere
- cytoplasmic aggregates
- nuclear foci
- inner nuclear membrane
- outer nuclear membrane
- nuclear rim
- nuclear envelope
- myofibrils
- I band
- Z line
- filopodia
- cell membrane leading edge
- PML nuclear bodies
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SYNE2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- centrosome localization
- nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration
- nuclear migration
- nuclear migration along microfilament
- positive regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- sarcoplasmic reticulum
- nuclear outer membrane
- nucleoplasm
- filopodium membrane
- nuclear envelope
- nucleus
- Z disc
- nuclear membrane
- extracellular vesicular exosome
- intermediate filament cytoskeleton
- focal adhesion
- cytoplasm
- mitochondrion
- nuclear lumen
- SUN-KASH complex
- lamellipodium membrane
- sarcoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin binding