| Gene Information | |
|---|---|
| Gene Name | NUA |
| Organism | Homo sapiens (Human) |
| Gene Length | 6885 |
| Protein Names | Nesprin-2 (KASH domain-containing protein 2) (KASH2) (Nuclear envelope spectrin repeat protein 2) (Nucleus and actin connecting element protein) (Protein NUANCE) (Synaptic nuclear envelope protein 2) (Syne-2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | NA |
| Gene Card | SYNE2 |
| Uniprot ID | Q8WXH0 |
| Pfam | PF00307; PF10541; PF00435 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed, with higher level in kidney, adult and fetal liver, stomach and placenta. Weakly expressed in skeletal muscle and brain. Isoform 5 is highly expressed in pancreas, skeletal muscle and heart. {ECO:0000269|PubMed:15671068}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 4DXS (X-ray 2.71A ) 4FI9 (X-ray 3.05A ) 6XF1 (X-ray 2.80A ) |
| DBSNP | rs2275017 rs35554503 rs9944035 rs17751301 rs4902264 rs4027402 rs34625768 rs4027404 rs7157465 rs4027404 rs4027405 rs4027405 rs34393543 rs11628107 rs1890908 rs1890908 rs3829767 rs34843668 rs11847087 rs8010911 rs8010699 rs35203186 rs10137972 rs17101661 rs17766354 rs12881815 rs2039475 rs10151658 rs17179194 rs2275014 rs36215895 rs35315070 rs35700578 |
| Subcellular location [CC] | Nucleus outer membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Sarcoplasmic reticulum membrane {ECO:0000305|PubMed:15671068}; Single-pass type IV membrane protein {ECO:0000305}. Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Cytoplasm, cytoskeleton. Mitochondrion. Nucleus, nucleoplasm. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000305|PubMed:15671068}. Note=Different isoform patterns are found in the different compartments of the cell. The isoforms having the C-terminal transmembrane span can be found in several organellar membranes like the nuclear envelope, the sarcoplasmic reticulum of myoblasts, or the lamellipodia and focal adhesions at the cell membrane. The largest part of the outer nuclear membrane-associated protein is cytoplasmic, while its C-terminal part is associated with the nuclear envelope, most probably the outer nuclear membrane. Remains associated with the nuclear envelope during its breakdown in mitotic cells. Shorter soluble isoforms can be found in the cytoplasm and within the nucleus.; [Isoform 8]: Cell junction, focal adhesion {ECO:0000269|PubMed:22768332}. Note=In U2OS cells. {ECO:0000269|PubMed:22768332}. |
| Mouse PG classification | NA |
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