InnateDB Protein
|
IDBP-8801.7
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
SYNE2
|
Protein Name
|
spectrin repeat containing, nuclear envelope 2
|
Synonyms
|
EDMD5; Nesp2; Nesprin-2; NUA; NUANCE; SYNE-2; TROPH;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000344528
|
InnateDB Gene
|
IDBG-8789 (SYNE2)
|
Protein Structure
|
|
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. {ECO:0000269PubMed:12118075, ECO:0000269PubMed:18396275, ECO:0000269PubMed:19596800, ECO:0000269PubMed:20724637}.
|
Subcellular Localization |
Nucleus outer membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Sarcoplasmic reticulum membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}. Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. 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.
|
Disease Associations |
Emery-Dreifuss muscular dystrophy 5, autosomal dominant (EDMD5) [MIM:612999]: A form of Emery-Dreifuss muscular dystrophy, 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. {ECO:0000269PubMed:17761684}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
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:0000269PubMed:15671068}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
27
[view]
|
Protein-Protein |
27
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
3 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001715
Calponin homology domain
IPR022613
Calmodulin-regulated spectrin-associated protein, CH domain
|
PFAM |
PF00307
PF11971
|
PRINTS |
|
PIRSF |
|
SMART |
SM00033
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q8WXH0
|
PhosphoSite |
PhosphoSite-Q8WXH0
|
TrEMBL |
I6XXQ5
|
UniProt Splice Variant |
|
Entrez Gene |
23224
|
UniGene |
Hs.740777
|
RefSeq |
|
HUGO |
HGNC:17084
|
OMIM |
608442
|
CCDS |
|
HPRD |
09763
|
IMGT |
|
EMBL |
AB023228
AF435010
AF435011
AF495911
AK074055
AK090430
AK095241
AL080133
AL117404
AL162832
AL355094
AL359235
AY061757
AY061758
AY061759
AY184204
BC042134
BC071873
JQ754367
|
GenPept |
AAH42134
AAH71873
AAL33547
AAL33548
AAL33800
AAL33801
AAL33802
AAN60443
AAO27772
AFN44385
BAA76855
BAB84881
BAC03411
BAC04506
CAB45729
CAB55905
|
|
|