ID:SYNE2_HUMAN DESCRIPTION: RecName: Full=Nesprin-2; AltName: Full=Nuclear envelope spectrin repeat protein 2; AltName: Full=Nucleus and actin connecting element protein; Short=Protein NUANCE; AltName: Full=Synaptic nuclear envelope protein 2; Short=Syne-2; FUNCTION: Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. Component of SUN-protein- containing multivariate complexes also called LINC complexes which link the nucleoskeleton and cytoskeleton by providing versatile outer nuclear membrane attachment sites for cytoskeletal filaments. Involved in the maintenance of nuclear organization and structural integrity. Connects nuclei to the cytoskeleton by interacting with the nuclear envelope and with F-actin in the cytoplasm. Specifically, SYNE2 and SUN2 assemble in arrays of transmembrane actin-associated nuclear (TAN) lines which are bound to F-actin cables and couple the nucleus to retrograde actin flow during actin-dependent nuclear movement. Required for centrosome migration to the apical cell surface during early ciliogenesis. SUBUNIT: Component of LINC complexes composed of SUN domain- containing proteins SUN1 or SUN2 coupled to KASH domain-containing proteins (SYNE1, SYNE2 or SYNE3), also called nesprins. Interacts with F-actin via its N-terminal domain. Interacts with EMD, LMNA and MKS3. INTERACTION: Q9UKG1:APPL1; NbExp=3; IntAct=EBI-2372294, EBI-741243; O94901:SUN1; NbExp=2; IntAct=EBI-6170976, EBI-2796904; Q9UH99:SUN2; NbExp=5; IntAct=EBI-2372294, EBI-1044964; SUBCELLULAR LOCATION: Nucleus outer membrane; Single-pass type IV membrane protein; Cytoplasmic side (Potential). Sarcoplasmic reticulum membrane; Single-pass type IV membrane protein (Potential). Cell membrane; Single-pass membrane protein (Potential). Cytoplasm, cytoskeleton. Mitochondrion. Nucleus, nucleoplasm. 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 solubles isoforms can be found in the cytoplasm and within the nucleus. 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. DOMAIN: The KASH domain mediates the nuclear envelope targeting. DISEASE: Defects in SYNE2 are the cause of Emery-Dreifuss muscular dystrophy type 5 (EDMD5) [MIM:612999]. A degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. SIMILARITY: Belongs to the nesprin family. SIMILARITY: Contains 1 actin-binding domain. SIMILARITY: Contains 2 CH (calponin-homology) domains. SIMILARITY: Contains 1 KASH domain. SIMILARITY: Contains 9 spectrin repeats. SEQUENCE CAUTION: Sequence=BAB84881.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAB45729.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAB55905.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8WXH0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
