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SYNE2 Gene

protein-coding   GIFtS: 56
GCID: GC14P064319

Spectrin Repeat Containing, Nuclear Envelope 2

  See SYNE2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Spectrin Repeat Containing, Nuclear Envelope 21 2     Nesp22
Nuclear Envelope Spectrin Repeat-21 2     Nesprin-22
Nuclear Envelope Spectrin Repeat Protein 22 3     SYNE-22
Nucleus And Actin Connecting Element Protein2 3     TROPH2
Synaptic Nuclear Envelope Protein 22 3     Nesprin 22
NUA2 3     nesprin-22
EDMD52 5     polytrophin2
NUANCE2 5     Synaptic Nuclei Expressed Gene 22
KIAA10113 5     Syne-23
Nucleus And Actin Connecting Element1     Protein NUANCE3

External Ids:    HGNC: 170841   Entrez Gene: 232242   Ensembl: ENSG000000546547   OMIM: 6084425   UniProtKB: Q8WXH03   

Export aliases for SYNE2 gene to outside databases

Previous GC identifers: GC14P058113 GC14P062309 GC14P063389 GC14P044548


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 syne2-related emery-dreifuss muscular dystrophy, and emery-dreifuss muscular dystrophy 5, autosomal dominant. GO annotations related to this gene include actin binding. An important paralog of this gene is ACTN4.

UniProtKB/Swiss-Prot: SYNE2_HUMAN, Q8WXH0
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 Wiki entry for SYNE2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the SYNE2 gene promoter:
         CREB   GR   Spz1   MAZR   Sp1   p300   Pax-6   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSYNE2 promoter sequence
   Search Chromatin IP Primers for SYNE2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SYNE2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q23.2   Ensembl cytogenetic band:  14q23.2   HGNC cytogenetic band: 14q22.1-q22.3

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P064319:  view genomic region     (about GC identifiers)

Start:
64,319,683 bp from pter      End:
64,693,167 bp from pter
Size:
373,485 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SYNE2_HUMAN, Q8WXH0 (See protein sequence)
Recommended Name: Nesprin-2  
Size: 6885 amino acids; 796442 Da
Subunit: 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)
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;
2 PDB 3D structures from and Proteopedia for SYNE2:
4DXS (3D)        4FI9 (3D)    
Secondary accessions: Q540G1 Q8N1S3 Q8NF49 Q8TER7 Q8WWW3 Q8WWW4 Q8WWW5 Q8WXH1 Q9NU50 Q9UFQ4
Q9Y2L4 Q9Y4R1
Alternative splicing: 9 isoforms:  Q8WXH0-1   Q8WXH0-2   Q8WXH0-3   Q8WXH0-4   Q8WXH0-5   Q8WXH0-6   Q8WXH0-7   Q8WXH0-8   
Q8WXH0-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SYNE2: NX_Q8WXH0

Explore proteomics data for SYNE2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SYNE2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_055995.4  NP_878914.1  NP_878917.1  NP_878918.2  

    ENSEMBL proteins: 
     ENSP00000341781   ENSP00000344528   ENSP00000452570   ENSP00000450831   ENSP00000378249  
     ENSP00000451520   ENSP00000452434   ENSP00000451972   ENSP00000451184   ENSP00000452298  
     ENSP00000451009   ENSP00000450605   ENSP00000450789   ENSP00000391937   ENSP00000396794  
     ENSP00000350719   ENSP00000348382   ENSP00000349969  
    Reactome Protein details: Q8WXH0

    SYNE2 Human Recombinant Protein Products:

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    OriGene Purified Protein for SYNE2
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    OriGene Custom MassSpec
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    Novus Biologicals SYNE2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SYNE2 

    SYNE2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SYNE2
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    Novus Biologicals SYNE2 Antibodies
    Abcam antibodies for SYNE2
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for SYNE2
    Search LSBio for Antibodies for SYNE2

    SYNE2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SYNE2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SYNE2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR002017 Spectrin_repeat
     IPR001715 CH-domain
     IPR001589 Actinin_actin-bd_CS
     IPR012315 KASH
     IPR018159 Spectrin/alpha-actinin

    Graphical View of Domain Structure for InterPro Entry Q8WXH0

    ProtoNet protein and cluster: Q8WXH0

    4 Blocks protein domains:
    IPB000515 Binding-protein-dependent transport systems inner membrane component
    IPB001589 Actin-binding
    IPB001715 Calponin-like actin-binding
    IPB011072 Protein kinase PKN/PRK1


    UniProtKB/Swiss-Prot: SYNE2_HUMAN, Q8WXH0
    Domain: The KASH domain mediates the nuclear envelope targeting
    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


    Find genes that share domains with SYNE2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYNE2_HUMAN, Q8WXH0
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ISS--
    GO:0005515protein binding IPI15671068
         
    Find genes that share ontologies with SYNE2           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Syne2):
     cellular  integument  mortality/aging  muscle  nervous system 
     respiratory system 

    Find genes that share phenotypes with SYNE2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SYNE2: Syne2tm1Ngl Syne2tm1Rexu

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SYNE2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SYNE2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SYNE2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SYNE2

    miRNA
    Products:
        
    miRTarBase miRNAs that target SYNE2:
    hsa-let-7b-5p (MIRT052060), hsa-mir-193b-3p (MIRT016274), hsa-mir-484 (MIRT041646), hsa-mir-21-5p (MIRT030732), hsa-mir-155-5p (MIRT001498), hsa-mir-26b-5p (MIRT029118), hsa-mir-148b-3p (MIRT019254), hsa-mir-9-5p (MIRT021366), hsa-mir-34a-5p (MIRT025264), hsa-mir-1 (MIRT023596)

    Block miRNA regulation of human, mouse, rat SYNE2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SYNE2 (see all 17):
    hsa-miR-323-3p hsa-miR-3163 hsa-miR-1271 hsa-miR-485-3p hsa-miR-501-3p hsa-miR-219-5p hsa-miR-454* hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidSYNE2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SYNE2
    Predesigned siRNA for gene silencing in human, mouse, rat SYNE2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SYNE2

    Clone
    Products:
         
    OriGene clones in human, mouse for SYNE2 (see all 22)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): SYNE2 (NM_015180)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYNE2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYNE2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SYNE2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNE2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SYNE2_HUMAN, Q8WXH0: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    endoplasmic reticulum5
    mitochondrion5
    nucleus5
    plasma membrane5
    cytosol3
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005635nuclear envelope IDA15671068
    GO:0005640nuclear outer membrane IEA--
    GO:0005654nucleoplasm IEA--
    GO:0005737cytoplasm IDA15671068

    Find genes that share ontologies with SYNE2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SYNE2 About    
    See pathways by source

    SuperPathContained pathways About
    1Packaging Of Telomere Ends
    Meiotic Synapsis0.66
    Chromosome Maintenance0.62
    2Cell Cycle, Mitotic
    Cell Cycle0.90
    3Meiosis (REACTOME)
    Meiosis0.74
    4Ovarian Infertility Genes
    Ovarian Infertility Genes


    Find genes that share SuperPaths with SYNE2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SYNE2
        Ovarian Infertility Genes

    1 Reactome Pathway for SYNE2
        Meiotic synapsis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SYNE2
    Interactions:

        GeneGlobe Interaction Network for SYNE2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SYNE2 (Q8WXH01, 2, 3 ENSP000003507194) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK8IP2Q133872, 3MINT-8262628 I2D: score=2 
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    ACTC1P680323, ENSP000002903784I2D: score=2 STRING: ENSP00000290378
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006998nuclear envelope organization IEA--
    GO:0007097nuclear migration IMP--
    GO:0007163establishment or maintenance of cell polarity IEA--
    GO:0010761fibroblast migration IEA--
    GO:0030335positive regulation of cell migration ISS--

    Find genes that share ontologies with SYNE2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SYNE2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SYNE2 gene (5 alternative transcripts): 
    NM_015180.4  NM_182910.2  NM_182913.2  NM_182914.2  NM_182912.1  

    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30):
    ENST00000344113 ENST00000341472(uc001xgk.3) ENST00000556725 ENST00000554584(uc010apw.1 uc021ruh.1)
    ENST00000557005 ENST00000555002 ENST00000557060(uc010apx.1) ENST00000394768(uc010apz.1 uc010apy.3)
    ENST00000555323 ENST00000553308 ENST00000553455 ENST00000555612(uc001xgo.3 uc001xgq.3)
    ENST00000557024(uc001xgp.3) ENST00000553289 ENST00000556342 ENST00000555241
    ENST00000553801 ENST00000556906
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SYNE2 (see all 17):
    hsa-miR-323-3p hsa-miR-3163 hsa-miR-1271 hsa-miR-485-3p hsa-miR-501-3p hsa-miR-219-5p hsa-miR-454* hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidSYNE2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SYNE2
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): SYNE2 (NM_015180)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYNE2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYNE2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SYNE2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SYNE2
      QuantiTect SYBR Green Assays in human, mouse, rat SYNE2
      QuantiFast Probe-based Assays in human, mouse, rat SYNE2

    Selected AceView cDNA sequences (see all 316):

    NM_182912 BM019005 CA423800 NM_182910 BX282648 AK074055 AL080133 CA868590 
    BG110769 BE673396 BE673476 AA255739 AW451449 BM503281 BE018062 AI200286 
    AA480895 CD105945 AB023228 AI825282 AY184204 BI914129 AK090430 AA813160 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SYNE2 (see all 6)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for SYNE2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SYNE2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SYNE2 Expression
    About this image


    SYNE2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testicular Interstitial Cells Testis Interstitium
    SYNE2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SYNE2 Protein Expression

    UniProtKB/Swiss-Prot: SYNE2_HUMAN, Q8WXH0
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SYNE2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Syne21 , 5 synaptic nuclear envelope 25
    spectrin repeat containing, nuclear envelope 21
    77.69(n)1
    70.94(a)1
      12 (33.11 cM)5
    3195651  NM_001005510.21  NP_001005510.21 
     758181345 
    chicken
    (Gallus gallus)
    Aves SYNE21 spectrin repeat containing, nuclear envelope 2 62.9(n)
    52.55(a)
      423509  XM_003641440.2  XP_003641488.2 
    lizard
    (Anolis carolinensis)
    Reptilia SYNE26
    spectrin repeat containing, nuclear envelope 2
    45(a)
    1 ↔ 1
    1(1691904-1998805)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1420178442   -- 74.36(n)    142017844 
    zebrafish
    (Danio rerio)
    Actinopterygii syne2b1 spectrin repeat containing, nuclear envelope 2b 49.68(n)
    36.92(a)
      559348  XM_005157028.1  XP_005157085.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Msp-3006
    Muscle-specific protein 300
    8(a)
    1 → many
    2L(5100877-5207002)
    worm
    (Caenorhabditis elegans)
    Secernentea anc-16
    Protein ANC-1 (anc-1) mRNA, complete cds
    14(a)
    1 → many
    I(4321095-4359105) WBGene00000140


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SYNE2 gene
    ACTN42  SPTBN22  SPTA12  SPTBN42  SPTB2  SPTBN12  ACTN22  SPTBN52  
    SPTAN12  ACTN12  SYNE12  CLMN2  
    Selected SIMAP similar genes for SYNE2 using alignment to 10 protein entries:     SYNE2_HUMAN (see all proteins) (see all similar genes):
    DKFZp686H1931    TROPH    DKFZp686J1895    DKFZp686M09200    HSpTB1    CLMN
    ORF    SYNE1    DMD    DKFZp686K0193    MACF1    PLEC
    SPTB    ACTN1    SPTBN2    SPTBN1    ACF7    SPNB4

    Find genes that share paralogs with SYNE2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SYNE2 (see all 8688)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs362158951,2,,4
    C,FEmery-Dreifuss muscular dystrophy 5, autosomal dominant (EDMD5)4 pathogenic145663156(+) AGACAC/TGGCCA 4 T M mis13Minor allele frequency- T:0.00EU NA 6209
    VAR_0362554
    A breast cancer sample4--see VAR_0362552 V I mis40--------
    VAR_0362564
    A breast cancer sample4--see VAR_0362562 Y C mis40--------
    rs121619031,2
    C,F,A--45303656(+) TGGCCG/AGATGC 2 -- us2k17Minor allele frequency- A:0.39NA WA EA 366
    rs1130005111,2
    C--45303660(+) CGGATA/GCGGTG 2 -- us2k10--------
    rs619857511,2
    C,F--45303662(+) GATGCG/AGTGGC 2 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1131389601,2
    C,F--45303686(+) CCCAGC/TGCTTG 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1448779301,2
    --45303716(+) ATCACG/TAGGTC 2 -- us2k10--------
    rs1874819951,2
    C--45303723(+) GGTCAA/GGAGTT 2 -- us2k10--------
    rs1915869631,2
    --45303829(+) TGGGAA/GGGTGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SYNE2 (64319683 - 64569683 bp, first 250kb of SYNE2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SYNE2 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1069906CNV Deletion17803354
    esv2748779CNV Deletion23290073
    esv2667533CNV Deletion23128226
    esv2661706CNV Deletion23128226
    nsv507758CNV Insertion20534489
    nsv1306CNV Insertion18451855
    esv269192CNV Insertion20981092
    nsv902021CNV Loss21882294
    nsv826965CNV Loss20364138
    nsv902020CNV Loss21882294

    Human Gene Mutation Database (HGMD): SYNE2
    Locus Specific Mutation Databases (LSDB): SYNE2

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608442   
    OMIM disorders: 612999  
    UniProtKB/Swiss-Prot: SYNE2_HUMAN, Q8WXH0
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 4 diseases for SYNE2:    
    About MalaCards
    syne2-related emery-dreifuss muscular dystrophy    emery-dreifuss muscular dystrophy 5, autosomal dominant    emery-dreifuss muscular dystrophy 2, ad    emery-dreifuss muscular dystrophy


    Find genes that share disorders with SYNE2           About GenesLikeMe

    Genetic Association Database (GAD): SYNE2
    Human Genome Epidemiology (HuGE) Navigator: SYNE2 (3 documents)

    Export disorders for SYNE2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SYNE2 gene, integrated from 10 sources (see all 66):
    (articles sorted by number of sources associating them with SYNE2)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 10231032)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1999)
    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. (PubMed id 15671068)1, 2, 9 Zhang Q.... Shanahan C.M. (J. Cell Sci. 2005)
    3. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. (PubMed id 17761684)1, 2, 9 Zhang Q.... Shanahan C.M. (Hum. Mol. Genet. 2007)
    4. The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300. (PubMed id 12408964)1, 2, 9 Zhang Q.... Roberts R.G. (Genomics 2002)
    5. Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes. (PubMed id 19933576)1, 2 Haque F.... Shackleton S. (J. Biol. Chem. 2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness. (PubMed id 18396275)1, 2 Stewart-Hutchinson P.J.... Hodzic D. (Exp. Cell Res. 2008)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Nuclear membrane proteins with potential disease links found by subtractive proteomics. (PubMed id 12958361)1, 2 Schirmer E.C.... Gerace L. (Science 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23224 HGNC: 17084 AceView: SYNE2 Ensembl:ENSG00000054654 euGenes: HUgn23224
    ECgene: SYNE2 H-InvDB: SYNE2

    (According to HUGE)
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    HUGE: KIAA1011

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SYNE2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SYNE2 gene:
    Search GeneIP for patents involving SYNE2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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