SYNE3: Spectrin Repeat Containing Nuclear Envelope Protein 3
Key regulator of nuclear positioning and cytoskeletal organization
Gene Information Card
| Symbol | SYNE3 |
|---|---|
| Full Name | spectrin repeat containing nuclear envelope protein 3 |
| Gene Type | protein coding |
| Chromosomal Location | 14q32.13 |
| NCBI Gene ID | 161176 ncbi.nlm.nih.gov/gene/161176 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q6ZMZ3 |
| OMIM ID | 610944 |
| HGNC ID | 28881 |
| Aliases | C14orf49, NUA, NET53, nesprin-3 |
Description
SYNE3 (spectrin repeat containing nuclear envelope protein 3) encodes nesprin-3, a component of the linker of nucleoskeleton and cytoskeleton (LINC) complex. Nesprin-3 localizes to the nuclear envelope and interacts with SUN domain proteins and plectin, linking the nucleus to the intermediate filament cytoskeleton. It plays a critical role in nuclear positioning, cell migration, and mechanical stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Emery-Dreifuss muscular dystrophy | Disruption of LINC complex integrity affecting nuclear-cytoskeletal coupling | ClinVar |
| Cardiomyopathy | Altered nuclear positioning and mechanotransduction in cardiac myocytes | ClinVar |
| Cancer (various) | Dysregulation of nuclear envelope proteins affecting cell migration and invasion | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Lung | 8.1 | Low |
| Brain | 6.3 | Low |
| Liver | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical adenocarcinoma |
| A549 | 11.8 | Lung carcinoma |
| HEK 293 | 9.4 | Embryonic kidney |
| K562 | 7.2 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Arg412Cys; potential loss of function |
| c.567_568del | Frameshift | 0.001% | p.Glu189fs; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, disrupting LINC complex assembly.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the spectrin repeat domain may interfere with wild-type nesprin-3 function.
View complete mutation data：
Gene Ontology (GO)
| • nuclear envelope | • cytoskeleton |
| • nuclear migration | • protein binding |
| • spectrin binding | • actin binding |
| • intermediate filament binding |
Pathways
• LINC complex pathway
• Nuclear-cytoskeletal coupling
• Cell migration and adhesion
Protein Summary
Nesprin-3 is a 975-amino acid protein containing an N-terminal actin-binding domain, a central spectrin repeat rod domain, and a C-terminal KASH domain that anchors it to the nuclear envelope. It forms part of the LINC complex, connecting the nucleus to intermediate filaments via plectin. This protein is essential for maintaining nuclear shape, positioning, and mechanotransduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYNE3 Knockout HEK293 Cell Line | EDJ-KQ15582 | Human | 161176 | Details Get a Quote |
| SYNE3 Knockout HCT 116 Cell Line | EDJ-KQ46449 | Human | 161176 | Details Get a Quote |
| SYNE3 Knockout HeLa Cell Line | EDJ-KQ58822 | Human | 161176 | Details Get a Quote |
| SYNE3 Knockout A-549 Cell Line | EDJ-KQ67306 | Human | 161176 | Details Get a Quote |
