InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SYNE2

Summary

InnateDB Protein

IDBP-372201.5

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

ENSP00000396794

InnateDB Gene

IDBG-8789 (SYNE2)

Protein Structure

UniProt Annotation

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

Interactions

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]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005515	protein binding

Biological Process

GO:0007097	nuclear migration
GO:0030335	positive regulation of cell migration
GO:0031022	nuclear migration along microfilament
GO:0051642	centrosome localization
GO:0090286	cytoskeletal anchoring at nuclear membrane

Cellular Component

GO:0005634	nucleus
GO:0005635	nuclear envelope
GO:0005640	nuclear outer membrane
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005925	focal adhesion
GO:0016021	integral component of membrane
GO:0016235	aggresome
GO:0016529	sarcoplasmic reticulum
GO:0030018	Z disc
GO:0031258	lamellipodium membrane
GO:0031527	filopodium membrane
GO:0031965	nuclear membrane
GO:0031981	nuclear lumen
GO:0033017	sarcoplasmic reticulum membrane
GO:0034993	SUN-KASH complex
GO:0045111	intermediate filament cytoskeleton