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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SYNE2 Gene

protein-coding   GIFtS: 60
GCID: GC14P064319

Spectrin Repeat Containing, Nuclear Envelope 2

  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 vasculogenic impotence, and syne2-related emery-dreifuss muscular dystrophy, and among its related super-pathways are Meiotic Synapsis and Cell Cycle, Mitotic. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SYNE2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SYNE2_HUMAN, Q8WXH0 (See protein sequence)
Recommended Name: Nesprin-2  
Size: 6885 amino acids; 796442 Da
Subunit: Component of LINC complexes composed of SUN domain-containing proteins SUN1 or SUN2 coupled to KASH
domain-containing proteins (SYNE1, SYNE2 or SYNE3), also called nesprins. Interacts with F-actin via its
N-terminal domain. Interacts with EMD, LMNA and MKS3
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WXH0

  • SYNE2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SYNE2 Protein Expression
    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
    Human Recombinant Protein Products for SYNE2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SYNE2
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for SYNE2
    GenScript Custom Purified and Recombinant Proteins Services for SYNE2
    Novus Biologicals SYNE2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/19 cellular component terms (GO ID links to tree view) (see all 19):    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

    SYNE2 for ontologies           About GeneDecksing



    SYNE2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SYNE2
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    GenScript Custom Superior Antibodies Services for SYNE2
    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 

    Assay Products for SYNE2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SYNE2
    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.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    SYNE2 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ISS--
    GO:0005515protein binding IPI15671068
         
    SYNE2 for ontologies           About GeneDecksing


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

    SYNE2 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SYNE2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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-mir-155 (MIRT001498)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SYNE2
    8/17 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SYNE2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYNE2

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


    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SYNE2 (see all 20)
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    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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    GenScript Custom overexpressing Cell Line Services for SYNE2
    Search LifeMap BioReagents cell lines for SYNE2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNE2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SYNE2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Meiotic Synapsis
    Meiotic Synapsis0.70
    Chromosome Maintenance0.56
    Meiosis0.70
    2Cell Cycle
    Cell Cycle0.84
    3Ovarian Infertility Genes
    Ovarian Infertility Genes

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SYNE2
        Ovarian Infertility Genes

    4        Reactome Pathways for SYNE2
        Meiotic Synapsis
    Cell Cycle
    Meiosis
    Chromosome Maintenance



    SYNE2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SYNE2

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

    5/39 Interacting proteins for SYNE2 (Q8WXH01, 2, 3 ENSP000003507194) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    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): 5/9 biological process terms (GO ID links to tree view) (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--

    SYNE2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SYNE2

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SYNE2 gene (5 alternative transcripts): 
    NM_015180.4  NM_182910.2  NM_182913.2  NM_182914.2  NM_182912.1  

    Unigene Cluster for SYNE2:

    Spectrin repeat containing, nuclear envelope 2
    Hs.745014  [show with all ESTs]
    Unigene Representative Sequence: NM_182914
    18/30 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SYNE2
    8/17 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SYNE2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYNE2
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SYNE2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SYNE2

    Additional mRNA sequence: 

    AB023228.3 AF357236.1 AF435010.1 AF435011.1 AF495911.1 AK001876.1 AK074055.1 AK090430.1 
    AK095087.1 AK095241.1 AK125715.1 AK127612.1 AK128631.1 AK297874.1 AK298465.1 AL080133.1 
    AL117404.1 AY061757.1 AY061758.1 AY061759.1 AY184204.1 AY927509.1 AY927627.1 BC036941.1 
    BC042134.1 BC071873.1 BC154417.1 BX537642.1 BX538095.1 BX640974.1 BX648234.1 CR749324.1 
    JQ754367.1 

    24/35 DOTS entries (see all 35):

    DT.448766  DT.86858393  DT.100859461  DT.100658159  DT.100658165  DT.100658164  DT.100658166  DT.100658162 
    DT.40288586  DT.95100546  DT.100685557  DT.97846394  DT.95335218  DT.120767891  DT.95078686  DT.120767948 
    DT.120768056  DT.75181117  DT.100753358  DT.95142106  DT.95331850  DT.317045  DT.40127886  DT.86846407 

    24/316 AceView cDNA sequences (see all 316):

    AA480895 CD105945 AB023228 AI825282 AY184204 BI914129 AK090430 AA813160 
    CA867834 BP364494 BE856003 CR619897 CD671619 AW589851 AA972285 AA747679 
    AI638206 BE206269 BQ057203 BC042134 AW119118 AW129591 BG222179 AY061758 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SYNE2 expression in normal human tissues (normalized intensities)      SYNE2 embryonic expression: see
    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 
     5/30 selected tissues (see all 30) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Thalamus
             brain/midbrain   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Testicular Interstitial Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Breast (Uncategorized)    fully expand to see all 4 entries
             breast ; myoepithelial cells   
             breast ductal cells   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             Ureter
             urinary bladder ; urothelial cells   
             visceral organ   

    See SYNE2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SYNE2

    SOURCE GeneReport for Unigene cluster: Hs.745014

    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SYNE2 gene from 6/12 species (see all 12)    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
    77.63(n)1
    70.92(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 59.08(n)
    47.95(a)
      423509  XM_003641440.1  XP_003641488.1 
    lizard
    (Anolis carolinensis)
    Reptilia SYNE26
    --
    Uncharacterized protein
    45(a)
    37(a)
    1 ↔ 1
    possible ortholog
    1(1691904-1998805)
    AAWZ02036914(5675-20612)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia 1420178442   -- 74.36(n)    142017844 
    zebrafish
    (Danio rerio)
    Actinopterygii syne2a6
    si:ch211-207i1.26
    (see all 7)
    si:ch211-207i1.2
    (see all 7)
    54(a)
    40(a)
    (see all 7)
    possible ortholog
    possible ortholog
    (see all 7)
    20(21711672-21745130)
    20(21845430-21850018)
    worm
    (Caenorhabditis elegans)
    Secernentea anc-16
    Nuclear anchorage protein 1
    10(a)
    1 ↔ 1
    I(4321095-4359105)


    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)
    About This Section
    Paralogs for SYNE2 gene
    ACTN42  SPTBN22  SPTA12  SPTBN42  SPTB2  SPTBN12  ACTN22  SPTBN52  
    SPTAN12  SYNE12  ACTN12  CLMN2  
    18/23 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    UTRN    DMD    DKFZp686K0193    MACF1
    PLEC    SPTB    SPTBN2    SPTBN1    ACTN1    ACF7

    SYNE2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/8688 SNPs in SYNE2 are shown (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
    ----------
    VAR_0362554
    A breast cancer sample4--see VAR_0362552 V I mis40--------
    VAR_0362564
    A breast cancer sample4--see VAR_0362562 Y C mis40--------
    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
    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) 10/12 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 13 diseases for SYNE2:    About MalaCards
    vasculogenic impotence    syne2-related emery-dreifuss muscular dystrophy    ureterocele    emery-dreifuss muscular dystrophy
    impotence    giardiasis    progeria    muscular dystrophy
    myopathy    infertility    hepatitis b    hepatitis
    leukemia


    SYNE2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SYNE2 gene, integrated from 9 sources (see all 64):
    (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. (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. (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. (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. (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. (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. (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. (2008)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    10. Nuclear membrane proteins with potential disease links found by subtractive proteomics. (PubMed id 12958361)1, 2 Schirmer E.C....Gerace L. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 23224 HGNC: 17084 AceView: SYNE2 Ensembl:ENSG00000054654 euGenes: HUgn23224
    ECgene: SYNE2 H-InvDB: SYNE2

    (According to HUGE)
    About This Section
    HUGE: KIAA1011

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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