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Aliases for SYNE1 Gene

Aliases for SYNE1 Gene

  • Spectrin Repeat Containing Nuclear Envelope Protein 1 2 3 5
  • Myocyte Nuclear Envelope Protein 1 2 3 4
  • Spectrin Repeat Containing, Nuclear Envelope 1 2 3
  • Synaptic Nuclear Envelope Protein 1 3 4
  • KASH Domain-Containing Protein 1 3 4
  • Enaptin 3 4
  • C6orf98 3 4
  • KASH1 3 4
  • MYNE1 3 4
  • Nuclear Envelope Spectrin Repeat Protein 1 4
  • Nuclear Envelope Spectrin Repeat-1 2
  • Chromosome 6 Open Reading Frame 98 2
  • Synaptic Nuclei Expressed Gene 1 3
  • CPG2 Full Length 3
  • EC 4.2.1.49 56
  • EC 4.3.1.3 56
  • Nesprin 1 3
  • Nesprin-1 3
  • DJ45H2.2 3
  • KIAA0796 4
  • KIAA1262 4
  • KIAA1756 4
  • Myne-1 4
  • Syne-1 4
  • ARCA1 3
  • EDMD4 3
  • Nesp1 3
  • SCAR8 3
  • CPG2 3
  • 8B 3

External Ids for SYNE1 Gene

Previous HGNC Symbols for SYNE1 Gene

  • C6orf98

Previous GeneCards Identifiers for SYNE1 Gene

  • GC06M152338
  • GC06M152473
  • GC06M152534
  • GC06M152485
  • GC06M150004
  • GC06M152442

Summaries for SYNE1 Gene

Entrez Gene Summary for SYNE1 Gene

  • This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for SYNE1 Gene

SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) is a Protein Coding gene. Diseases associated with SYNE1 include Spinocerebellar Ataxia, Autosomal Recessive 8 and Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant. Among its related pathways are Meiosis and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include nucleotide binding. An important paralog of this gene is SYNE2.

UniProtKB/Swiss-Prot for SYNE1 Gene

  • Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrososme attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenenis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette.

Additional gene information for SYNE1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYNE1 Gene

Genomics for SYNE1 Gene

GeneHancer (GH) Regulatory Elements for SYNE1 Gene

Promoters and enhancers for SYNE1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I152634 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +1.7 1744 2.9 ZNF76 ZNF2 ZNF335 GLIS2 ZNF366 SCRT2 EGR2 SP3 ZBTB11 ZNF398 SYNE1 NANOGP11
GH06I152490 Enhancer 0.6 Ensembl ENCODE 19.1 +146.3 146264 2.4 SP1 JUND FOSL2 SYNE1 GC06P152451 NANOGP11
GH06I152575 Enhancer 0.9 Ensembl ENCODE 11.6 +61.9 61900 1 CEBPG FEZF1 ZEB1 HIC1 ZNF366 ZNF362 ZNF189 HLF CEBPB ZEB2 SYNE1 VIP NANOGP11
GH06I152458 Enhancer 0.8 ENCODE 10.6 +178.8 178826 1.4 MLX INSM2 MZF1 FEZF1 ZNF213 ZNF366 ZSCAN5C SCRT2 ZNF350 KLF13 FBXO5 RNA5SP223 ENSG00000226193 SYNE1 GC06P152451 NANOGP11
GH06I151696 Enhancer 0.7 dbSUPER 11.3 +940.6 940577 1.5 ZFP64 ZNF140 ZNF266 ZNF697 ZNF664 ZNF791 ZNF213 ZNF138 ZNF547 ZNF433 HSPA8P15 ZBTB2 SYNE1 AKAP12 GC06P151669 ESR1 GC06P151812
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SYNE1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SYNE1 gene promoter:

Genomic Locations for SYNE1 Gene

Genomic Locations for SYNE1 Gene
chr6:152,121,684-152,637,801
(GRCh38/hg38)
Size:
516,118 bases
Orientation:
Minus strand
chr6:152,442,819-152,958,936
(GRCh37/hg19)

Genomic View for SYNE1 Gene

Genes around SYNE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYNE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYNE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYNE1 Gene

Proteins for SYNE1 Gene

  • Protein details for SYNE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NF91-SYNE1_HUMAN
    Recommended name:
    Nesprin-1
    Protein Accession:
    Q8NF91
    Secondary Accessions:
    • B3W695
    • E7EQI5
    • H0Y4C0
    • O94890
    • Q3ZCV0
    • Q5JV19
    • Q5JV22
    • Q8N9P7
    • Q8TCP1
    • Q8WWW6
    • Q8WWW7
    • Q8WXF6
    • Q96N17
    • Q9C0A7
    • Q9H525
    • Q9H526
    • Q9NS36
    • Q9NU50
    • Q9UJ06
    • Q9UJ07
    • Q9ULF8

    Protein attributes for SYNE1 Gene

    Size:
    8797 amino acids
    Molecular mass:
    1011086 Da
    Quaternary structure:
    • Core component of LINC complexes which are composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN and KASH domain-containing proteins seem to bind each other promiscuously; however, differentially expression of LINC complex constituents can give rise to specific assemblies. At least SUN1/2-containing core LINC complexes are proposed to be hexameric composed of three protomers of each KASH and SUN domain-containing protein. The SUN2:SYNE1/KASH1 LINC complex is a heterohexamer; the homotrimeric cloverleave-like conformation of the SUN domain is a prerequisite for LINC complex formation in which three separate SYNE1/KASH1 peptides bind at the interface of adjacent SUN domains. Self-associates. Interacts with SYNE3. Interacts with SPAG4/SUN4. May interact with MUSK. Interacts with F-actin via its N-terminal domain. Interacts with EMD and LMNA in vitro.
    SequenceCaution:
    • Sequence=AAC02992.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH39121.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAM95335.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin.; Evidence={ECO:0000305}; Sequence=BAB71097.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305}; Sequence=BAC04284.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD28486.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SYNE1 Gene

    Alternative splice isoforms for SYNE1 Gene

neXtProt entry for SYNE1 Gene

Selected DME Specific Peptides for SYNE1 Gene

Q8NF91:
  • PASVDSI
  • KGFKIDI

Post-translational modifications for SYNE1 Gene

  • The disulfid bond with SUN1 or SUN2 is required for stability of the respective LINC complex under tensile forces.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for SYNE1 Gene

Gene Families for SYNE1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

Q8NF91

UniProtKB/Swiss-Prot:

SYNE1_HUMAN :
  • The KASH domain, which contains a transmembrane domain, mediates the nuclear envelope targeting and is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.
  • Belongs to the nesprin family.
Domain:
  • The KASH domain, which contains a transmembrane domain, mediates the nuclear envelope targeting and is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.
Family:
  • Belongs to the nesprin family.
genes like me logo Genes that share domains with SYNE1: view

Function for SYNE1 Gene

Molecular function for SYNE1 Gene

UniProtKB/Swiss-Prot Function:
Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrososme attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenenis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette.

Enzyme Numbers (IUBMB) for SYNE1 Gene

Phenotypes From GWAS Catalog for SYNE1 Gene

Gene Ontology (GO) - Molecular Function for SYNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IDA 22658674
GO:0003779 actin binding IDA,IEA 12408964
GO:0005515 protein binding IPI 12812986
GO:0005521 lamin binding IPI 11801724
GO:0019899 enzyme binding IPI 24862572
genes like me logo Genes that share ontologies with SYNE1: view
genes like me logo Genes that share phenotypes with SYNE1: view

Human Phenotype Ontology for SYNE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SYNE1 Gene

MGI Knock Outs for SYNE1:

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for SYNE1 Gene

Localization for SYNE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNE1 Gene

Nucleus outer membrane; Single-pass type IV membrane protein; Cytoplasmic side. Nucleus. Nucleus envelope. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere. Note=The largest part of the protein is cytoplasmic, while its C-terminal part is associated with the nuclear envelope, most probably the outer nuclear membrane. In skeletal and smooth muscles, a significant amount is found in the sarcomeres. In myoblasts, relocalized from the nuclear envelope to the nucleus and cytoplasm during cell differentiation.
Isoform GSRP-56: Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SYNE1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
golgi apparatus 5
cytosol 4
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SYNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IDA 24862572
GO:0005634 nucleus HDA,IEA 21630459
GO:0005635 nuclear envelope IEA,IDA 11792814
GO:0005640 nuclear outer membrane IEA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with SYNE1: view

Pathways & Interactions for SYNE1 Gene

SuperPathways for SYNE1 Gene

SuperPathway Contained pathways
1 Meiosis
.73
2 Cell Cycle, Mitotic
genes like me logo Genes that share pathways with SYNE1: view

Pathways by source for SYNE1 Gene

3 Reactome pathways for SYNE1 Gene

Gene Ontology (GO) - Biological Process for SYNE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006997 nucleus organization NAS 11792814
GO:0007030 Golgi organization IDA 12808039
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0042692 muscle cell differentiation IDA 11792814
genes like me logo Genes that share ontologies with SYNE1: view

No data available for SIGNOR curated interactions for SYNE1 Gene

Drugs & Compounds for SYNE1 Gene

(5) Drugs for SYNE1 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carboxypeptidase G2 (CPG2) Inhibitor Pharma CPG2 Inhibitor 0

(3) Additional Compounds for SYNE1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for SYNE1 Gene

Compound Action Cas Number
Carboxypeptidase G2 (CPG2) Inhibitor CPG2 Inhibitor 192203-60-4
genes like me logo Genes that share compounds with SYNE1: view

Drug Products

Transcripts for SYNE1 Gene

Unigene Clusters for SYNE1 Gene

Spectrin repeat containing, nuclear envelope 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SYNE1 Gene

No ASD Table

Relevant External Links for SYNE1 Gene

GeneLoc Exon Structure for
SYNE1
ECgene alternative splicing isoforms for
SYNE1

Expression for SYNE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SYNE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SYNE1 Gene

This gene is overexpressed in Islet of Langerhans (17.5), Peripheral blood mononuclear cells (8.7), and CD8 Tcells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SYNE1 Gene



Protein tissue co-expression partners for SYNE1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SYNE1 Gene:

SYNE1

SOURCE GeneReport for Unigene cluster for SYNE1 Gene:

Hs.12967

mRNA Expression by UniProt/SwissProt for SYNE1 Gene:

Q8NF91-SYNE1_HUMAN
Tissue specificity: Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta. Isoform GSRP-56 is predominantly expressed in heart and skeletal muscle (at protein level).

Evidence on tissue expression from TISSUES for SYNE1 Gene

  • Heart(5)
  • Nervous system(4.9)
  • Muscle(4.5)
  • Adrenal gland(4.3)
  • Kidney(4.3)
  • Liver(4.3)
  • Spleen(4.3)
  • Blood(3.9)
  • Eye(3.8)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SYNE1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • head
  • neck
Thorax:
  • heart
  • heart valve
  • lung
  • scapula
Abdomen:
  • kidney
Limb:
  • arm
  • elbow
  • foot
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SYNE1: view

No data available for mRNA differential expression in normal tissues for SYNE1 Gene

Orthologs for SYNE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SYNE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SYNE1 33 34
  • 98.97 (n)
cow
(Bos Taurus)
Mammalia SYNE1 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SYNE1 33 34
  • 89.68 (n)
mouse
(Mus musculus)
Mammalia Syne1 33 16 34 34
  • 84.41 (n)
oppossum
(Monodelphis domestica)
Mammalia SYNE1 34
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Syne1 33
  • 82.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SYNE1 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SYNE1 33 34
  • 73.17 (n)
lizard
(Anolis carolinensis)
Reptilia SYNE1 34
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii syne1b 33 34
  • 61.7 (n)
SYNE1 (2 of 2) 34
  • 30 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Msp-300 34
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea anc-1 34
  • 16 (a)
OneToMany
Species where no ortholog for SYNE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SYNE1 Gene

ENSEMBL:
Gene Tree for SYNE1 (if available)
TreeFam:
Gene Tree for SYNE1 (if available)

Paralogs for SYNE1 Gene

Paralogs for SYNE1 Gene

genes like me logo Genes that share paralogs with SYNE1: view

Variants for SYNE1 Gene

Sequence variations from dbSNP and Humsavar for SYNE1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs10499268 conflicting-interpretations-of-pathogenicity, likely-benign, benign, not specified, Emery-Dreifuss muscular dystrophy, Cerebellar ataxia, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Spinocerebellar ataxia, autosomal recessive 8 152,331,464(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1057518825 uncertain-significance, EMG: myopathic abnormalities, Shoulder girdle muscle weakness 152,239,642(-) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1060499769 likely-pathogenic, Abnormality of brain morphology 152,354,858(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs111250109 conflicting-interpretations-of-pathogenicity, likely-benign, benign, not specified, Emery-Dreifuss muscular dystrophy, Cerebellar ataxia, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Spinocerebellar ataxia, autosomal recessive 8 152,425,458(-) A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs111322292 uncertain-significance, Emery-Dreifuss muscular dystrophy, Cerebellar ataxia 152,444,592(-) AAAAAAAAAAA/AAAAAAAAA/AAAAAAAAAA/AAAAAAAAAAAA/AAAAAAAAAAAAA intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SYNE1 Gene

Variant ID Type Subtype PubMed ID
esv1005915 CNV insertion 20482838
esv1098429 CNV insertion 17803354
esv22532 CNV loss 19812545
esv2537738 CNV deletion 19546169
esv2673379 CNV deletion 23128226
esv2732905 CNV deletion 23290073
esv2732907 CNV deletion 23290073
esv2732908 CNV deletion 23290073
esv2732909 CNV deletion 23290073
esv3571483 CNV loss 25503493
esv3611282 CNV gain 21293372
esv3611284 CNV loss 21293372
esv991344 CNV deletion 20482838
nsv1015648 CNV loss 25217958
nsv1029193 CNV gain 25217958
nsv1029227 CNV gain 25217958
nsv1032029 CNV loss 25217958
nsv1148096 CNV deletion 26484159
nsv349055 CNV deletion 16902084
nsv464082 CNV gain 19166990
nsv473659 CNV novel sequence insertion 20440878
nsv474437 CNV novel sequence insertion 20440878
nsv477451 CNV novel sequence insertion 20440878
nsv478853 CNV novel sequence insertion 20440878
nsv507369 OTHER sequence alteration 20534489
nsv508434 CNV deletion 20534489
nsv518810 CNV loss 19592680
nsv5542 CNV insertion 18451855
nsv5544 CNV insertion 18451855
nsv5545 CNV insertion 18451855
nsv604912 CNV loss 21841781
nsv604913 CNV gain 21841781
nsv818461 CNV gain 17921354
nsv830846 CNV loss 17160897
nsv958379 CNV deletion 24416366

Variation tolerance for SYNE1 Gene

Residual Variation Intolerance Score: 7.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 22.01; 99.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SYNE1 Gene

Human Gene Mutation Database (HGMD)
SYNE1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYNE1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYNE1 Gene

Disorders for SYNE1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for SYNE1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

SYNE1_HUMAN
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269 PubMed:17761684}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8) [MIM:610743]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form. {ECO:0000269 PubMed:17159980}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SYNE1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SYNE1: view

No data available for Genatlas for SYNE1 Gene

Publications for SYNE1 Gene

  1. Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness. (PMID: 18396275) Stewart-Hutchinson PJ … Hodzic D (Experimental cell research 2008) 3 4 22 58
  2. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. (PMID: 17761684) Zhang Q … Shanahan CM (Human molecular genetics 2007) 3 4 22 58
  3. Enaptin, a giant actin-binding protein, is an element of the nuclear membrane and the actin cytoskeleton. (PMID: 15093733) Padmakumar VC … Korenbaum E (Experimental cell research 2004) 3 4 22 58
  4. Golgi localization of Syne-1. (PMID: 12808039) Gough LL … Beck KA (Molecular biology of the cell 2003) 3 4 22 58
  5. The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300. (PMID: 12408964) Zhang Q … Roberts RG (Genomics 2002) 3 4 22 58

Products for SYNE1 Gene

Sources for SYNE1 Gene

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