Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SYNE2 Gene

Aliases for SYNE2 Gene

  • Spectrin Repeat Containing, Nuclear Envelope 2 2 3
  • Nucleus And Actin Connecting Element Protein 3 4
  • Nuclear Envelope Spectrin Repeat Protein 2 3 4
  • Synaptic Nuclear Envelope Protein 2 3 4
  • KIAA1011 4 6
  • SYNE-2 3 4
  • NUANCE 3 6
  • EDMD5 3 6
  • NUA 3 4
  • Nucleus And Actin Connecting Element 2
  • Nuclear Envelope Spectrin Repeat-2 2
  • Synaptic Nuclei Expressed Gene 2 3
  • Protein NUANCE 4
  • Polytrophin 3
  • Nesprin 2 3
  • Nesprin-2 3
  • Nesp2 3
  • TROPH 3

External Ids for SYNE2 Gene

Previous GeneCards Identifiers for SYNE2 Gene

  • GC14P058113
  • GC14P062309
  • GC14P063389
  • GC14P064319
  • GC14P044548

Summaries for SYNE2 Gene

Entrez Gene Summary for SYNE2 Gene

  • The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for SYNE2 Gene

SYNE2 (Spectrin Repeat Containing, Nuclear Envelope 2) is a Protein Coding gene. Diseases associated with SYNE2 include emery-dreifuss muscular dystrophy 5, autosomal dominant and syne2-related emery-dreifuss muscular dystrophy. Among its related pathways are Cell Cycle, Mitotic and Meiosis. GO annotations related to this gene include actin binding. An important paralog of this gene is ACTN2.

UniProtKB/Swiss-Prot for SYNE2 Gene

  • 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.

Gene Wiki entry for SYNE2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYNE2 Gene

Genomics for SYNE2 Gene

Regulatory Elements for SYNE2 Gene

Genomic Location for SYNE2 Gene

Start:
63,852,965 bp from pter
End:
64,226,449 bp from pter
Size:
373,485 bases
Orientation:
Plus strand

Genomic View for SYNE2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SYNE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYNE2 Gene

Proteins for SYNE2 Gene

  • Protein details for SYNE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXH0-SYNE2_HUMAN
    Recommended name:
    Nesprin-2
    Protein Accession:
    Q8WXH0
    Secondary Accessions:
    • B4DND7
    • B4DPR6
    • I6XXQ5
    • Q540G1
    • Q86YP9
    • Q8N1S3
    • Q8NF49
    • Q8TER7
    • Q8WWW3
    • Q8WWW4
    • Q8WWW5
    • Q8WXH1
    • Q9NU50
    • Q9UFQ4
    • Q9Y2L4
    • Q9Y4R1

    Protein attributes for SYNE2 Gene

    Size:
    6885 amino acids
    Molecular mass:
    796442 Da
    Quaternary structure:
    • Core component of the LINC complex which is composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN domain-containing proteins interact with A-type lamins of the nuclear lamina, while at the other end of the complex, nesprins interact with unique cytoskeletal components. Interacts with F-actin via its N-terminal domain. Interacts with EMD, LMNA and MKS3. Interacts with TMEM67 (By similarity).
    SequenceCaution:
    • Sequence=BAB84881.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB45729.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB55905.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SYNE2 Gene

    Alternative splice isoforms for SYNE2 Gene

neXtProt entry for SYNE2 Gene

Proteomics data for SYNE2 Gene at MOPED

Post-translational modifications for SYNE2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SYNE2 Gene

Domains for SYNE2 Gene

Suggested Antigen Peptide Sequences for SYNE2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WXH0

UniProtKB/Swiss-Prot:

SYNE2_HUMAN :
  • Q8WXH0
Domain:
  • The KASH domain mediates the nuclear envelope targeting.
  • Contains 1 actin-binding domain.
  • Contains 2 CH (calponin-homology) domains.
  • Contains 1 KASH domain.
Family:
  • Belongs to the nesprin family.
Similarity:
  • Contains 56 spectrin repeats.
genes like me logo Genes that share domains with SYNE2: view

No data available for Gene Families for SYNE2 Gene

Function for SYNE2 Gene

Molecular function for SYNE2 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for SYNE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0005515 protein binding IPI 15671068
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with SYNE2: view
genes like me logo Genes that share phenotypes with SYNE2: view

Animal Models for SYNE2 Gene

MGI Knock Outs for SYNE2:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SYNE2 Gene

Localization for SYNE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNE2 Gene

Nucleus outer membrane; Single-pass type IV membrane protein; Cytoplasmic side. Sarcoplasmic reticulum membrane; Single-pass type IV membrane protein. Cell membrane; Single-pass membrane protein. Cytoplasm, cytoskeleton. Mitochondrion. Nucleus, nucleoplasm. Cytoplasm, myofibril, sarcomere, Z line. 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.
Isoform 8: Cell junction, focal adhesion. Note=In U2OS cells. {ECO:0000269 PubMed:22768332}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SYNE2 Gene COMPARTMENTS Subcellular localization image for SYNE2 gene
Compartment Confidence
cytoskeleton 5
endoplasmic reticulum 5
mitochondrion 5
nucleus 5
plasma membrane 5
cytosol 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for SYNE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005635 nuclear envelope IDA 15671068
GO:0005640 nuclear outer membrane IEA --
GO:0005654 nucleoplasm IEA --
GO:0005737 cytoplasm IDA 12118075
genes like me logo Genes that share ontologies with SYNE2: view

Pathways for SYNE2 Gene

genes like me logo Genes that share pathways with SYNE2: view

Pathways by source for SYNE2 Gene

1 BioSystems pathway for SYNE2 Gene
4 Reactome pathways for SYNE2 Gene

Gene Ontology (GO) - Biological Process for SYNE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006998 nuclear envelope organization IEA --
GO:0007097 nuclear migration IMP 20724637
GO:0007163 establishment or maintenance of cell polarity IEA --
GO:0010761 fibroblast migration IEA --
GO:0030335 positive regulation of cell migration ISS --
genes like me logo Genes that share ontologies with SYNE2: view

Transcripts for SYNE2 Gene

Unigene Clusters for SYNE2 Gene

Spectrin repeat containing, nuclear envelope 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SYNE2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SYNE2
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SYNE2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:

Relevant External Links for SYNE2 Gene

GeneLoc Exon Structure for
SYNE2
ECgene alternative splicing isoforms for
SYNE2

Expression for SYNE2 Gene

mRNA expression in normal human tissues for SYNE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SYNE2 Gene

SOURCE GeneReport for Unigene cluster for SYNE2 Gene Hs.745014

mRNA Expression by UniProt/SwissProt for SYNE2 Gene

Q8WXH0-SYNE2_HUMAN
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.
genes like me logo Genes that share expressions with SYNE2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SYNE2 Gene

Orthologs for SYNE2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SYNE2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SYNE2 35
  • 99.36 (n)
  • 98.96 (a)
SYNE2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SYNE2 35
  • 86.31 (n)
  • 81.38 (a)
SYNE2 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SYNE2 35
  • 86.68 (n)
  • 81.38 (a)
SYNE2 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Syne2 35
  • 77.69 (n)
  • 70.94 (a)
Syne2 16
Syne2 36
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SYNE2 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYNE2 36
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Syne2 35
  • 77.23 (n)
  • 70.4 (a)
chicken
(Gallus gallus)
Aves SYNE2 35
  • 62.9 (n)
  • 52.55 (a)
SYNE2 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYNE2 36
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia syne2 35
  • 53.98 (n)
  • 41.56 (a)
zebrafish
(Danio rerio)
Actinopterygii syne2a 36
  • 21 (a)
OneToMany
syne2b 35
  • 49.68 (n)
  • 36.92 (a)
syne2b 36
  • 21 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Msp-300 36
  • 8 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea anc-1 36
  • 14 (a)
OneToMany
Species with no ortholog for SYNE2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SYNE2 Gene

ENSEMBL:
Gene Tree for SYNE2 (if available)
TreeFam:
Gene Tree for SYNE2 (if available)

Paralogs for SYNE2 Gene

genes like me logo Genes that share paralogs with SYNE2: view

Variants for SYNE2 Gene

Sequence variations from dbSNP and Humsavar for SYNE2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs870023 -- 63,965,119(+) cacca(G/T)gcccg intron-variant
rs944462 -- 64,175,300(+) AATGA(C/T)GATAT intron-variant
rs945025 -- 63,950,166(+) GCCAC(A/G)TTTGG intron-variant
rs945027 -- 63,950,954(+) ACCAG(C/G)CTGGA intron-variant
rs945028 -- 63,951,078(+) TTTAA(C/G)CAGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SYNE2 Gene

Variant ID Type Subtype PubMed ID
esv2748779 CNV Deletion 23290073
nsv826965 CNV Loss 20364138
esv2667533 CNV Deletion 23128226
nsv902019 CNV Gain 21882294
nsv1306 CNV Insertion 18451855
esv2661706 CNV Deletion 23128226
nsv507758 CNV Insertion 20534489
nsv456326 CNV Gain 19166990
nsv902020 CNV Loss 21882294
esv1069906 CNV Deletion 17803354
esv269192 CNV Insertion 20981092
nsv902021 CNV Loss 21882294

Relevant External Links for SYNE2 Gene

HapMap Linkage Disequilibrium report
SYNE2
Human Gene Mutation Database (HGMD)
SYNE2
Locus Specific Mutation Databases (LSDB)
SYNE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYNE2 Gene

Disorders for SYNE2 Gene

(1) OMIM Diseases for SYNE2 Gene (608442)

UniProtKB/Swiss-Prot

SYNE2_HUMAN
  • 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:0000269 PubMed:17761684}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SYNE2

Genetic Association Database (GAD)
SYNE2
Human Genome Epidemiology (HuGE) Navigator
SYNE2
genes like me logo Genes that share disorders with SYNE2: view

Publications for SYNE2 Gene

  1. The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300. (PMID: 12408964) Zhang Q. … Roberts R.G. (Genomics 2002) 3 4 23
  2. Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle. (PMID: 15671068) Zhang Q. … Shanahan C.M. (J. Cell Sci. 2005) 3 4 23
  3. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. (PMID: 17761684) Zhang Q. … Shanahan C.M. (Hum. Mol. Genet. 2007) 3 4 23
  4. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4
  5. Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction. (PMID: 10878022) Apel E.D. … Sanes J.R. (J. Biol. Chem. 2000) 2 3

Products for SYNE2 Gene

Sources for SYNE2 Gene

Back to Top

Content