SUN3 Gene
Sad1 and UNC84 Domain Containing 3
Gene Information Card
| Symbol | SUN3 |
|---|---|
| Full Name | Sad1 and UNC84 Domain Containing 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 256979 ncbi.nlm.nih.gov/gene/256979 |
| Ensembl ID | ENSG00000164825 |
| UniProt ID | Q8N0W4 |
| OMIM ID | 618382 |
| HGNC ID | 28588 |
| Aliases | SUN3, SUNC1, FLJ20489 |
Description
SUN3 (Sad1 and UNC84 Domain Containing 3) encodes a nuclear envelope protein that is a component of the LINC (Linker of Nucleoskeleton and Cytoskeleton) complex. SUN3 interacts with nesprin proteins to connect the nuclear lamina to the cytoskeleton, playing a role in nuclear positioning and mechanical stability. The gene is located on chromosome 7p22.3 and is expressed in multiple tissues, with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Disruption of SUN3 may impair nuclear envelope integrity during spermatogenesis, leading to male infertility | ClinVar, OMIM |
| Emery-Dreifuss muscular dystrophy (possible) | Mutations in SUN-domain proteins can disrupt nuclear-cytoskeletal coupling, though direct evidence for SUN3 is limited | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 3.4 | Not detected |
| Kidney | 4.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.0 | Low expression |
| HeLa | 3.2 | Not detected |
| K562 | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon, predicted loss of function |
| c.325C>T (p.Arg109Trp) | missense | <0.01% | Unknown effect, rare variant |
Mutation functional classification
Loss of Function (LOF)
Predicted for start-loss variants; may impair nuclear envelope integrity
Gain of Function (GOF)
No evidence
Dominant Negative (DN)
No evidence
View complete mutation data：
Gene Ontology (GO)
| • nuclear envelope | • LINC complex |
| • nuclear membrane | • protein binding |
| • nucleus |
Pathways
• LINC complex assembly
• Nuclear-cytoskeletal coupling
Protein Summary
SUN3 is a 371-amino acid protein containing a conserved SUN domain at the C-terminus. It localizes to the inner nuclear membrane and forms part of the LINC complex, bridging the nuclear lamina to the cytoskeleton. SUN3 is essential for nuclear positioning and mechanical transduction, particularly in tissues with high mechanical stress such as testis and muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SUN3 Knockout HEK293 Cell Line | EDJ-KQ11089 | Human | 256979 | Details Get a Quote |
| SUN3 Knockout HCT 116 Cell Line | EDJ-KQ40277 | Human | 256979 | Details Get a Quote |
| SUN3 Knockout HeLa Cell Line | EDJ-KQ59315 | Human | 256979 | Details Get a Quote |
| SUN3 Knockout A-549 Cell Line | EDJ-KQ67781 | Human | 256979 | Details Get a Quote |
