SYNE2 Gene
protein-coding GIFtS : 57
GCID: GC14 P064319
spectrin repeat containing, nuclear envelope 2
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Aliasesfor SYNE2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Spectrin Repeat Containing, Nuclear Envelope 2 1 2 EDMD52 5 NUA1 2 3 DKFZP434H22351 NUANCE1 2 5 TROPH2 KIAA10111 3 5 Nesprin 22 Nesp21 2 Nesprin-21 2 Nesprin-21 2 Nuclear Envelope Spectrin Repeat-22 SYNE-21 2 Polytrophin1 Nuclear Envelope Spectrin Repeat Protein 22 3 Synaptic Nuclei Expressed Gene 22 Nucleus And Actin Connecting Element Protein2 3 Syne-23 Synaptic Nuclear Envelope Protein 22 3 Protein NUANCE3
Export aliases for SYNE2 gene to outside databases Previous GC identifers: GC14P058113 GC14P062309 GC14P063389 GC14P044548
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Summariesfor SYNE2 gene (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 : 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) UniProtKB/Swiss-Prot: SYNE2_HUMAN, Q8WXH0 Function : Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton tomaintain 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
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Genomic Viewsfor 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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000014.8 NC_018925.1 NT_026437.12 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 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) 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
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Proteinsfor SYNE2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
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 KASHdomain-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 Q9Y2L4Q9Y4R1 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 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q8WXH0 SYNE2 Protein expression data from MOPED and PaxDb : About this image
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: Gene Ontology (GO): 5/18 cellular component terms (GO ID links to tree view) (see all 18 ): About this table
SYNE2 for ontologies About GeneDecksing SYNE2 Antibody Products: Assay Products for SYNE2:
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Protein
Domains / Familiesfor SYNE2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
SYNE2 for domains About GeneDecksing 5 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q8WXH0 ProtoNet protein and cluster: Q8WXH0
4 Blocks protein families : 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 targetingSimilarity : Belongs to the nesprin familySimilarity : Contains 1 actin-binding domainSimilarity : Contains 2 CH (calponin-homology) domainsSimilarity : Contains 1 KASH domainSimilarity : Contains 9 spectrin repeats
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Functionfor SYNE2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
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 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: SYNE2_HUMAN, Q8WXH0 Function : Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton tomaintain 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
Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SYNE2 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SYNE2 (see all 6 )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
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNE2
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0003779 actin binding
ISS -- GO:0005515 protein binding
IPI --
SYNE2 for ontologies About GeneDecksing Animal Models: Mouse knock-outs for SYNE2: Syne2 tm1Ngl Syne2 tm1Rexu 6 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Syne2) :
SYNE2 for phenotypes About GeneDecksing
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Pathways & Interactionsfor SYNE2 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways   About this table See pathways by source Super-pathway contained gene-specific pathways 1 Meiotic Synapsis 2 Ovarian Infertility Genes 3 Cell Cycle
Pathway sources See GeneCards unified pathways Show all pathways 1 BioSystems Pathway for SYNE2 5
Reactome Pathways for SYNE2
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 (Q8WXH0 1 , 2 , 3 ENSP00000350719 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 39 )About this table Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0006998 nuclear envelope organization
IEA -- GO:0007097 nuclear migration
IMP -- GO:0007163 establishment or maintenance of cell polarity
IEA -- GO:0010761 fibroblast migration
IEA -- GO:0030335 positive regulation of cell migration
ISS --
SYNE2 for ontologies About GeneDecksing
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Drugs & Compoundsfor SYNE2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section Browse Tocris compounds for SYNE2 Search CenterWatch for drugs/clinical trials and news about SYNE2
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Transcriptsfor SYNE2 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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 ,
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 ,
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.525392 [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 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SYNE2 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SYNE2 (see all 6 )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
Additional cDNA 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.86858393 DT.448766
DT.100859461 DT.100658159 DT.100658165 DT.100658164 DT.100658166 DT.100658162 DT.40288586 DT.95100546 DT.97846394 DT.100685557 DT.95335218 DT.120767891 DT.120767948 DT.95078686 DT.120768056 DT.75181117 DT.100753358 DT.95142106 DT.95331850 DT.317045 DT.40127886 DT.86846407 24/316 AceView cDNA sequences (see all 316 ):
AL117404 BU101582 AF435011 BQ269694 CR749324 BM562970 BX490649 BM469251 BQ638577 AA761297 AA732541 AK095241 AA747808 AA814679 NM_182913 NM_182914 CA396270 BX281701 AW731703 BE206269 BC071873 BQ057203 AW589851 AA747679 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
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Expression for SYNE2 gene
(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) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image SYNE2 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Heart Left Ventricle Heart Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
Stem Cell Differentiation: 1 LifeMap Cell Name Category Sclerotome cells (Primary Cell)Bone, Cartilage, Somite
See SYNE2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SYNE2 SOURCE GeneReport for Unigene cluster: Hs.525392 UniProtKB/Swiss-Prot: SYNE2_HUMAN, Q8WXH0 Tissue specificity : Widely expressed, with higher level in kidney, adult and fetal liver, stomach and placenta. Weaklyexpressed in skeletal muscle and brain. Isoform 5 is highly expressed in pancreas, skeletal muscle and heart SABiosciences Custom PCR Arrays for SYNE2 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SYNE2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat SYNE2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SYNE2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SYNE2 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNE2
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Orthologsfor SYNE2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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 5/20 species (see all 20 ) About this table
ENSEMBL Gene Tree for SYNE2 (if available)TreeFam Gene Tree for SYNE2 (if available)
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Paralogsfor SYNE2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for SYNE2 gene ACTN4 2 SPTBN2 2 SPTA1 2 SPTBN4 2 SPTBN1 2 SPTB 2 SPTBN5 2 ACTN2 2 SPTAN1 2 ACTN1 2 SYNE1 2 CLMN 2 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 ACTN1 SPTBN1 ACF7
SYNE2 for paralogs About GeneDecksing
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Genomic Variantsfor SYNE2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , 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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 14 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for SYNE2 (64319683 - 64569683 bp, first 250kb of SYNE2)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for SYNE2: -- Human Gene Mutation Database (HGMD) : SYNE2 Locus Specific Mutation Databases (LSDB): SYNE2 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SYNE2
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Disorders
/ Diseasesfor SYNE2 gene
(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 .)
About This Section
SYNE2 for disorders About GeneDecksing OMIM gene information: 608442 OMIM disorders : 612999 UniProtKB/Swiss-Prot: SYNE2_HUMAN, Q8WXH0
Defects in SYNE2 are the cause of Emery-Dreifuss muscular dystrophy type 5 (EDMD5) [MIM:612999]. 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 10 diseases for SYNE2 : About MalaCards emery-dreifuss muscular dystrophy vasculogenic impotence muscular dystrophy impotence ureterocele giardiasis progeria hepatitis b hepatitis leukemia Human Genome Epidemiology (HuGE) Navigator: SYNE2 (3 documents) Export disorders for SYNE2 gene to outside databases
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Publicationsfor SYNE2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for SYNE2 gene, integrated from 9 sources (see all 59 ): (articles sorted by number of sources associating them with SYNE2) Utopia : connect your pdf to the dynamic world of online information
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) 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) 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) 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) 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) 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) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) 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) Nuclear membrane proteins with potential disease links found by subtractive proteomics. (PubMed id 12958361) 1 , 2 Schirmer E.C....Gerace L. (2003) The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121) 1 , 2 Heilig R.... Weissenbach J. (2003)
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External Searches for SYNE2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing SYNE2 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing SYNE2 gene
(According to HUGE )
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Specialized Databases showing SYNE2 gene (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
Name Description
PharmGKB entry for SYNE2 Pharmacogenomics, SNPs, Pathways
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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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Productsfor SYNE2 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for SYNE2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for SYNE2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SYNE2 OriGene Protein Over-expression Lysate for SYNE2 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for SYNE2 OriGene 3'-UTR Clone for SYNE2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SYNE2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SYNE2 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for SYNE2 OriGene Custom Protein Services for SYNE2 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SYNE2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SYNE2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SYNE2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat SYNE2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SYNE2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SYNE2
Search Tocris compounds for SYNE2
SYNE2 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYNE2
Search ThermoFisher Antibodies for SYNE2
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SYNE2
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