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SYNE2 (spectrin repeat containing nuclear envelope protein 2)

Identity

Alias_namesspectrin repeat containing
Alias_symbol (synonym)SYNE-2
DKFZP434H2235
Nesprin-2
NUANCE
NUA
KIAA1011
Nesp2
Other aliasEDMD5
KASH2
TROPH
HGNC (Hugo) SYNE2
LocusID (NCBI) 23224
Atlas_Id 51353
Location 14q23.2  [Link to chromosome band 14q23]
Location_base_pair Starts at 63852965 and ends at 64226451 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LIN52 (14q24.3) / SYNE2 (14q23.2)MTHFD1 (14q23.3) / SYNE2 (14q23.2)OSTF1 (9q21.13) / SYNE2 (14q23.2)
SPRED2 (2p14) / SYNE2 (14q23.2)SYNE2 (14q23.2) / ACTN1 (14q24.1)SYNE2 (14q23.2) / CATSPERB (14q32.12)
SYNE2 (14q23.2) / DMRTA1 (9p21.3)SYNE2 (14q23.2) / ITPK1 (14q32.12)SYNE2 (14q23.2) / KIAA0391 (14q13.2)
SYNE2 (14q23.2) / MIPOL1 (14q13.3)SYNE2 (14q23.2) / MUC12 (7q22.1)SYNE2 (14q23.2) / NAPEPLD (7q22.1)
SYNE2 (14q23.2) / RTN1 (14q23.1)SYNE2 (14q23.2) / SP110 (2q37.1)SYNE2 (14q23.2) / SYNE2 (14q23.2)
LIN52 14q24.3 / SYNE2 14q23.2SYNE2 14q23.2 / ACTN1 14q24.1SYNE2 14q23.2 / CATSPERB 14q32.12
SYNE2 14q23.2 / DMRTA1 9p21.3SYNE2 14q23.2 / ITPK1 14q32.12SYNE2 14q23.2 / KIAA0391 14q13.2
SYNE2 14q23.2 / MIPOL1 14q13.3SYNE2 14q23.2 / RTN1 14q23.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)SYNE2   17084
LRG (Locus Reference Genomic)LRG_872
Cards
Entrez_Gene (NCBI)SYNE2  23224  spectrin repeat containing nuclear envelope protein 2
AliasesEDMD5; KASH2; NUA; NUANCE; 
Nesp2; Nesprin-2; SYNE-2; TROPH
GeneCards (Weizmann)SYNE2
Ensembl hg19 (Hinxton)ENSG00000054654 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000054654 [Gene_View]  chr14:63852965-64226451 [Contig_View]  SYNE2 [Vega]
ICGC DataPortalENSG00000054654
TCGA cBioPortalSYNE2
AceView (NCBI)SYNE2
Genatlas (Paris)SYNE2
WikiGenes23224
SOURCE (Princeton)SYNE2
Genetics Home Reference (NIH)SYNE2
Genomic and cartography
GoldenPath hg38 (UCSC)SYNE2  -     chr14:63852965-64226451 +  14q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SYNE2  -     14q23.2   [Description]    (hg19-Feb_2009)
EnsemblSYNE2 - 14q23.2 [CytoView hg19]  SYNE2 - 14q23.2 [CytoView hg38]
Mapping of homologs : NCBISYNE2 [Mapview hg19]  SYNE2 [Mapview hg38]
OMIM608442   612999   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_015180 NM_182910 NM_182912 NM_182913 NM_182914
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SYNE2
Cluster EST : UnigeneHs.745014 [ NCBI ]
CGAP (NCI)Hs.745014
Alternative Splicing GalleryENSG00000054654
Gene ExpressionSYNE2 [ NCBI-GEO ]   SYNE2 [ EBI - ARRAY_EXPRESS ]   SYNE2 [ SEEK ]   SYNE2 [ MEM ]
Gene Expression Viewer (FireBrowse)SYNE2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23224
GTEX Portal (Tissue expression)SYNE2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WXH0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WXH0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WXH0
Splice isoforms : SwissVarQ8WXH0
PhosPhoSitePlusQ8WXH0
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    KASH (PS51049)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    KASH    Spectrin/alpha-actinin    Spectrin_repeat    SYNE2   
Domain families : Pfam (Sanger)CH (PF00307)    KASH (PF10541)    Spectrin (PF00435)   
Domain families : Pfam (NCBI)pfam00307    pfam10541    pfam00435   
Domain families : Smart (EMBL)CH (SM00033)  KASH (SM01249)  SPEC (SM00150)  
Conserved Domain (NCBI)SYNE2
DMDM Disease mutations23224
Blocks (Seattle)SYNE2
PDB (SRS)4DXS    4FI9   
PDB (PDBSum)4DXS    4FI9   
PDB (IMB)4DXS    4FI9   
PDB (RSDB)4DXS    4FI9   
Structural Biology KnowledgeBase4DXS    4FI9   
SCOP (Structural Classification of Proteins)4DXS    4FI9   
CATH (Classification of proteins structures)4DXS    4FI9   
SuperfamilyQ8WXH0
Human Protein AtlasENSG00000054654
Peptide AtlasQ8WXH0
HPRD09763
IPIIPI00239405   IPI00239406   IPI00815967   IPI00239409   IPI00239410   IPI00412276   IPI00239413   IPI00239414   IPI01009561   IPI00239415   IPI01025763   IPI01025762   IPI01025888   IPI01026086   IPI01026201   IPI01026305   IPI01024755   IPI01024996   
Protein Interaction databases
DIP (DOE-UCLA)Q8WXH0
IntAct (EBI)Q8WXH0
FunCoupENSG00000054654
BioGRIDSYNE2
STRING (EMBL)SYNE2
ZODIACSYNE2
Ontologies - Pathways
QuickGOQ8WXH0
Ontology : AmiGOactin binding  protein binding  nucleus  nuclear envelope  nuclear outer membrane  nucleoplasm  cytoplasm  mitochondrion  focal adhesion  nuclear envelope organization  nuclear migration  establishment or maintenance of cell polarity  fibroblast migration  integral component of membrane  aggresome  sarcoplasmic reticulum  nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration  Z disc  positive regulation of cell migration  nuclear migration along microfilament  lamellipodium membrane  filopodium membrane  nuclear membrane  nuclear lumen  sarcoplasmic reticulum membrane  protein localization to nucleus  LINC complex  intermediate filament cytoskeleton  actin filament binding  centrosome localization  extracellular exosome  cytoskeletal anchoring at nuclear membrane  regulation of cilium assembly  
Ontology : EGO-EBIactin binding  protein binding  nucleus  nuclear envelope  nuclear outer membrane  nucleoplasm  cytoplasm  mitochondrion  focal adhesion  nuclear envelope organization  nuclear migration  establishment or maintenance of cell polarity  fibroblast migration  integral component of membrane  aggresome  sarcoplasmic reticulum  nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration  Z disc  positive regulation of cell migration  nuclear migration along microfilament  lamellipodium membrane  filopodium membrane  nuclear membrane  nuclear lumen  sarcoplasmic reticulum membrane  protein localization to nucleus  LINC complex  intermediate filament cytoskeleton  actin filament binding  centrosome localization  extracellular exosome  cytoskeletal anchoring at nuclear membrane  regulation of cilium assembly  
NDEx NetworkSYNE2
Atlas of Cancer Signalling NetworkSYNE2
Wikipedia pathwaysSYNE2
Orthology - Evolution
OrthoDB23224
GeneTree (enSembl)ENSG00000054654
Phylogenetic Trees/Animal Genes : TreeFamSYNE2
HOVERGENQ8WXH0
HOGENOMQ8WXH0
Homologs : HomoloGeneSYNE2
Homology/Alignments : Family Browser (UCSC)SYNE2
Gene fusions - Rearrangements
Fusion : MitelmanLIN52/SYNE2 [14q24.3/14q23.2]  [t(14;14)(q23;q24)]  
Fusion : MitelmanMTHFD1/SYNE2 [14q23.3/14q23.2]  [t(14;14)(q23;q23)]  
Fusion : MitelmanSYNE2/ACTN1 [14q23.2/14q24.1]  [t(14;14)(q23;q24)]  
Fusion : MitelmanSYNE2/CATSPERB [14q23.2/14q32.12]  [t(14;14)(q23;q32)]  
Fusion : MitelmanSYNE2/DMRTA1 [14q23.2/9p21.3]  [t(9;14)(p21;q23)]  
Fusion : MitelmanSYNE2/ITPK1 [14q23.2/14q32.12]  [t(14;14)(q23;q32)]  
Fusion : MitelmanSYNE2/KIAA0391 [14q23.2/14q13.2]  [t(14;14)(q13;q23)]  
Fusion : MitelmanSYNE2/RTN1 [14q23.2/14q23.1]  [t(14;14)(q23;q23)]  
Fusion: TCGALIN52 14q24.3 SYNE2 14q23.2 LUAD
Fusion: TCGASYNE2 14q23.2 ACTN1 14q24.1 LUAD
Fusion: TCGASYNE2 14q23.2 CATSPERB 14q32.12 BRCA
Fusion: TCGASYNE2 14q23.2 DMRTA1 9p21.3 BRCA
Fusion: TCGASYNE2 14q23.2 ITPK1 14q32.12 HNSC
Fusion: TCGASYNE2 14q23.2 KIAA0391 14q13.2 BRCA
Fusion: TCGASYNE2 14q23.2 MIPOL1 14q13.3 BRCA
Fusion: TCGASYNE2 14q23.2 RTN1 14q23.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSYNE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SYNE2
dbVarSYNE2
ClinVarSYNE2
1000_GenomesSYNE2 
Exome Variant ServerSYNE2
ExAC (Exome Aggregation Consortium)SYNE2 (select the gene name)
Genetic variants : HAPMAP23224
Genomic Variants (DGV)SYNE2 [DGVbeta]
DECIPHERSYNE2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSYNE2 
Mutations
ICGC Data PortalSYNE2 
TCGA Data PortalSYNE2 
Broad Tumor PortalSYNE2
OASIS PortalSYNE2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSYNE2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSYNE2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SYNE2
DgiDB (Drug Gene Interaction Database)SYNE2
DoCM (Curated mutations)SYNE2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SYNE2 (select a term)
intoGenSYNE2
Cancer3DSYNE2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608442    612999   
Orphanet13870   
MedgenSYNE2
Genetic Testing Registry SYNE2
NextProtQ8WXH0 [Medical]
TSGene23224
GENETestsSYNE2
Target ValidationSYNE2
Huge Navigator SYNE2 [HugePedia]
snp3D : Map Gene to Disease23224
BioCentury BCIQSYNE2
ClinGenSYNE2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23224
Chemical/Pharm GKB GenePA128394613
Clinical trialSYNE2
Miscellaneous
canSAR (ICR)SYNE2 (select the gene name)
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSYNE2
EVEXSYNE2
GoPubMedSYNE2
iHOPSYNE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:58:18 CEST 2017

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