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Aliases for SYNE2 Gene

Aliases for SYNE2 Gene

  • Spectrin Repeat Containing Nuclear Envelope Protein 2 2
  • Spectrin Repeat Containing, Nuclear Envelope 2 2 3 5
  • Nucleus And Actin Connecting Element Protein 3 4
  • Nuclear Envelope Spectrin Repeat Protein 2 3 4
  • Synaptic Nuclear Envelope Protein 2 3 4
  • SYNE-2 3 4
  • 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
  • KIAA1011 4
  • NUANCE 3
  • EDMD5 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 Protein 2) is a Protein Coding gene. Diseases associated with SYNE2 include emery-dreifuss muscular dystrophy 5, autosomal dominant and emery-dreifuss muscular dystrophy 2, ad. Among its related pathways are Cell Cycle, Mitotic and Packaging Of Telomere Ends. GO annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is SPTBN5.

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

Promoters for SYNE2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SYNE2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SYNE2 Gene

Chromosome:
14
Start:
63,852,586 bp from pter
End:
64,226,449 bp from pter
Size:
373,864 bases
Orientation:
Plus strand

Genomic View for SYNE2 Gene

Genes around SYNE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYNE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Antibody Products

No data available for DME Specific Peptides for SYNE2 Gene

Domains & Families for SYNE2 Gene

Suggested Antigen Peptide Sequences for SYNE2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WXH0

UniProtKB/Swiss-Prot:

SYNE2_HUMAN :
  • The KASH domain mediates the nuclear envelope targeting.
  • Belongs to the nesprin family.
  • Contains 56 spectrin repeats.
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

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: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

Human Phenotype Ontology for SYNE2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SYNE2 Gene

MGI Knock Outs for SYNE2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
extracellular 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 12118075
GO:0005635 nuclear envelope IEA,IDA 15671068
GO:0005654 nucleoplasm IEA --
GO:0005737 cytoplasm IDA 12118075
GO:0005739 mitochondrion IDA 15671068
genes like me logo Genes that share ontologies with SYNE2: view

Pathways & Interactions 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
3 Reactome pathways for SYNE2 Gene

Gene Ontology (GO) - Biological Process for SYNE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090286 cytoskeletal anchoring at nuclear membrane IEA,IDA 18396275
genes like me logo Genes that share ontologies with SYNE2: view

No data available for SIGNOR curated interactions for SYNE2 Gene

Drugs & Compounds for SYNE2 Gene

No Compound Related Data Available

Transcripts for SYNE2 Gene

Unigene Clusters for SYNE2 Gene

Spectrin repeat containing, nuclear envelope 2:
Representative Sequences:

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

Protein differential expression in normal tissues from HIPED for SYNE2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (18.2), Peripheral blood mononuclear cells (8.3), and Testis (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SYNE2: view

Protein tissue co-expression partners for SYNE2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 36
  • 81 (a)
OneToOne
SYNE2 35
  • 86.31 (n)
  • 81.38 (a)
dog
(Canis familiaris)
Mammalia SYNE2 35
  • 86.68 (n)
  • 81.38 (a)
SYNE2 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Syne2 16
Syne2 35
  • 77.69 (n)
  • 70.94 (a)
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 36
  • 21 (a)
OneToMany
syne2b 35
  • 49.68 (n)
  • 36.92 (a)
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
rs2275017 - 63,909,170(+) AGCTT(C/T)CCACC reference, missense
rs9944035 - 63,981,058(+) AAATA(C/T)ATATA reference, missense
rs4027404 -, - 64,031,212(+) CAACA(A/G)CATTC reference, missense
rs4027405 -, - 64,031,319(+) CAGCT(A/G)CAGTG reference, missense
rs1890908 -, - 64,052,317(+) AGGGC(A/G)GTGAT reference, missense

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

Variation tolerance for SYNE2 Gene

Residual Variation Intolerance Score: 98.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 22.66; 99.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SYNE2 Gene

HapMap Linkage Disequilibrium report
SYNE2
Human Gene Mutation Database (HGMD)
SYNE2

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

Disorders for SYNE2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SYNE2 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SYNE2 in MalaCards View complete list of genes associated with diseases

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SYNE2
genes like me logo Genes that share disorders with SYNE2: view

No data available for Genatlas for SYNE2 Gene

Publications for SYNE2 Gene

  1. 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 67
  2. Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development. (PMID: 20108321) Randles K.N. … Morris G.E. (Dev. Dyn. 2010) 3 23
  3. Novel nuclear nesprin-2 variants tether active extracellular signal-regulated MAPK1 and MAPK2 at promyelocytic leukemia protein nuclear bodies and act to regulate smooth muscle cell proliferation. (PMID: 19861416) Warren D.T. … Shanahan C.M. (J. Biol. Chem. 2010) 3 23
  4. 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 23
  5. Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells. (PMID: 17881656) Kandert S. … Karakesisoglou I. (Hum. Mol. Genet. 2007) 3 23

Products for SYNE2 Gene

Sources for SYNE2 Gene

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