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Aliases for SYNE3 Gene

Aliases for SYNE3 Gene

  • Spectrin Repeat Containing Nuclear Envelope Family Member 3 2
  • Spectrin Repeat Containing, Nuclear Envelope Family Member 3 3 5
  • Nuclear Envelope Spectrin Repeat Protein 3 3 4
  • C14orf49 3 4
  • Chromosome 14 Open Reading Frame 49 2
  • NET53 3
  • Nesp3 3

External Ids for SYNE3 Gene

Previous HGNC Symbols for SYNE3 Gene

  • C14orf49

Previous GeneCards Identifiers for SYNE3 Gene

  • GC14M095884

Summaries for SYNE3 Gene

GeneCards Summary for SYNE3 Gene

SYNE3 (Spectrin Repeat Containing Nuclear Envelope Family Member 3) is a Protein Coding gene. GO annotations related to this gene include actin binding and actin filament binding.

UniProtKB/Swiss-Prot for SYNE3 Gene

  • 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. Probable anchoring protein which tethers the nucleus to the cytoskeleton by binding PLEC which can associate with the intermediate filament system. Plays a role in the regulation of aortic epithelial cell morphology, and is required for flow-induced centrosome polarization and directional migration in aortic endothelial cells.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYNE3 Gene

Genomics for SYNE3 Gene

Regulatory Elements for SYNE3 Gene

Promoters for SYNE3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SYNE3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SYNE3 Gene

Chromosome:
14
Start:
95,407,266 bp from pter
End:
95,516,668 bp from pter
Size:
109,403 bases
Orientation:
Minus strand

Genomic View for SYNE3 Gene

Genes around SYNE3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYNE3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYNE3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYNE3 Gene

Proteins for SYNE3 Gene

  • Protein details for SYNE3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZMZ3-SYNE3_HUMAN
    Recommended name:
    Nesprin-3
    Protein Accession:
    Q6ZMZ3
    Secondary Accessions:
    • A6H8H3
    • Q86SX5
    • Q8N7G8

    Protein attributes for SYNE3 Gene

    Size:
    975 amino acids
    Molecular mass:
    112216 Da
    Quaternary structure:
    • Core component of the LINC complex which is composed of inner nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing nesprins. SUN domain-containing proteins interact with A-type lamins of the nuclear lamina, while at the other end of the complex, nesprins interact with unique cytoskeletal components. Interacts with PLEC (via actin-binding domain). Interacts with DST. Interacts with SYNE1 via spectrin repeats. Interacts (via KASH domain) with TOR1A (ATP-bound); the interaction is required for SYNE3 nuclear envelope localization.
    SequenceCaution:
    • Sequence=BAC05312.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD18582.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD62365.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SYNE3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYNE3 Gene

Proteomics data for SYNE3 Gene at MOPED

Post-translational modifications for SYNE3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SYNE3 Gene

No data available for DME Specific Peptides for SYNE3 Gene

Domains & Families for SYNE3 Gene

Protein Domains for SYNE3 Gene

Suggested Antigen Peptide Sequences for SYNE3 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZMZ3

UniProtKB/Swiss-Prot:

SYNE3_HUMAN :
  • The KASH domain is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.
  • Belongs to the nesprin family.
  • Contains 2 spectrin repeats.
Domain:
  • The KASH domain is involved in the binding to SUN1 and SUN2 through recognition of their SUN domains.
  • Contains 1 KASH domain.
Family:
  • Belongs to the nesprin family.
Similarity:
  • Contains 2 spectrin repeats.
genes like me logo Genes that share domains with SYNE3: view

Function for SYNE3 Gene

Molecular function for SYNE3 Gene

UniProtKB/Swiss-Prot Function:
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. Probable anchoring protein which tethers the nucleus to the cytoskeleton by binding PLEC which can associate with the intermediate filament system. Plays a role in the regulation of aortic epithelial cell morphology, and is required for flow-induced centrosome polarization and directional migration in aortic endothelial cells.

Gene Ontology (GO) - Molecular Function for SYNE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051015 actin filament binding IMP 22518138
genes like me logo Genes that share ontologies with SYNE3: view

Phenotypes for SYNE3 Gene

GenomeRNAi human phenotypes for SYNE3:
genes like me logo Genes that share phenotypes with SYNE3: view

Animal Model Products

CRISPR Products

miRNA for SYNE3 Gene

miRTarBase miRNAs that target SYNE3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SYNE3 Gene

Localization for SYNE3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNE3 Gene

Nucleus outer membrane; Single-pass type IV membrane protein. Nucleus envelope. Rough endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SYNE3 Gene COMPARTMENTS Subcellular localization image for SYNE3 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 3
cytosol 2
cytoskeleton 1
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SYNE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SYNE3: view

Pathways & Interactions for SYNE3 Gene

SuperPathways for SYNE3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SYNE3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IMP 21937718
genes like me logo Genes that share ontologies with SYNE3: view

No data available for Pathways by source and SIGNOR curated interactions for SYNE3 Gene

Drugs & Compounds for SYNE3 Gene

No Compound Related Data Available

Transcripts for SYNE3 Gene

Unigene Clusters for SYNE3 Gene

Spectrin repeat containing, nuclear envelope family member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SYNE3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16
SP1: -
SP2:
SP3:

Relevant External Links for SYNE3 Gene

GeneLoc Exon Structure for
SYNE3
ECgene alternative splicing isoforms for
SYNE3

Expression for SYNE3 Gene

mRNA expression in normal human tissues for SYNE3 Gene

mRNA differential expression in normal tissues according to GTEx for SYNE3 Gene

This gene is overexpressed in Adipose - Subcutaneous (x5.1).

Protein differential expression in normal tissues from HIPED for SYNE3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.4) and Testis (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SYNE3 Gene



SOURCE GeneReport for Unigene cluster for SYNE3 Gene Hs.354645

mRNA Expression by UniProt/SwissProt for SYNE3 Gene

Q6ZMZ3-SYNE3_HUMAN
Tissue specificity: Expressed in aortic endothelial cells (at protein level).
genes like me logo Genes that share expression patterns with SYNE3: view

Protein tissue co-expression partners for SYNE3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SYNE3 Gene

Orthologs for SYNE3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SYNE3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SYNE3 36
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SYNE3 36
  • 79 (a)
OneToOne
C21H14orf49 35
  • 83.62 (n)
  • 78.67 (a)
dog
(Canis familiaris)
Mammalia SYNE3 35
  • 84.91 (n)
  • 79.65 (a)
SYNE3 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Syne3 16
Syne3 36
  • 78 (a)
OneToOne
Syne3 35
  • 81.02 (n)
  • 77.7 (a)
oppossum
(Monodelphis domestica)
Mammalia SYNE3 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYNE3 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Syne3 35
  • 81.4 (n)
  • 78.31 (a)
chicken
(Gallus gallus)
Aves SYNE3 36
  • 54 (a)
OneToOne
C5H14ORF49 35
  • 61.88 (n)
  • 54.24 (a)
lizard
(Anolis carolinensis)
Reptilia SYNE3 36
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.29646 35
tropical clawed frog
(Silurana tropicalis)
Amphibia syne3 35
  • 57.24 (n)
  • 49 (a)
zebrafish
(Danio rerio)
Actinopterygii syne3 36
  • 36 (a)
OneToOne
syne3 35
  • 53.21 (n)
  • 41.62 (a)
Species with no ortholog for SYNE3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SYNE3 Gene

ENSEMBL:
Gene Tree for SYNE3 (if available)
TreeFam:
Gene Tree for SYNE3 (if available)

Paralogs for SYNE3 Gene

(1) SIMAP similar genes for SYNE3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SYNE3: view

No data available for Paralogs for SYNE3 Gene

Variants for SYNE3 Gene

Sequence variations from dbSNP and Humsavar for SYNE3 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs9671369 - 95,439,984(+) TTTGC(A/G)TGGTC reference, missense
rs17092216 - 95,433,357(+) CGAGA(C/T)GAAGG reference, missense
rs12434757 - 95,417,986(+) AGCAC(A/G)CCCTC downstream-variant-500B, reference, missense
rs10130647 - 95,417,918(+) CCTGA(C/T)TGGGA downstream-variant-500B, reference, missense
rs910783 -- 95,428,350(-) CTGCC(C/T)GTCAC intron-variant

Variation tolerance for SYNE3 Gene

Residual Variation Intolerance Score: 94.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.02; 93.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SYNE3 Gene

HapMap Linkage Disequilibrium report
SYNE3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SYNE3 Gene

Disorders for SYNE3 Gene

Relevant External Links for SYNE3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SYNE3

No disorders were found for SYNE3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SYNE3 Gene

Publications for SYNE3 Gene

  1. Nesprin-3, a novel outer nuclear membrane protein, associates with the cytoskeletal linker protein plectin. (PMID: 16330710) Wilhelmsen K. … Sonnenberg A. (J. Cell Biol. 2005) 3 4 23 67
  2. TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. (PMID: 18827015) Nery F.C. … Breakefield X.O. (J. Cell. Sci. 2008) 3 23
  3. A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy. (PMID: 23478653) Han J.Y. … Lee J.S. (Pharmacogenomics J. 2013) 3
  4. Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men. (PMID: 24049095) Chen Z. … Sun J. (J. Med. Genet. 2013) 3
  5. Cytoskeletal interactions at the nuclear envelope mediated by nesprins. (PMID: 22518138) Taranum S. … Noegel A.A. (Int. J. Cell Biol. 2012) 3

Products for SYNE3 Gene

Sources for SYNE3 Gene

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