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Aliases for SYNC Gene

Aliases for SYNC Gene

  • Syncoilin, Intermediate Filament Protein 2 3
  • Syncoilin, Intermediate Filament 1 2 3
  • Syncoilin Intermediate Filament 1 3 4
  • Syncoilin-1 3 4
  • SYNC1 3 4
  • Intermediate Filament Protein Syncoilin 3
  • SYNCOILIN 3

External Ids for SYNC Gene

Previous HGNC Symbols for SYNC Gene

  • SYNC1

Previous GeneCards Identifiers for SYNC Gene

  • GC01M032919
  • GC01M033145
  • GC01M031260

Summaries for SYNC Gene

Entrez Gene Summary for SYNC Gene

  • This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

GeneCards Summary for SYNC Gene

SYNC (Syncoilin, Intermediate Filament Protein) is a Protein Coding gene. Diseases associated with SYNC include myofibrillar myopathy and intermediate charcot-marie-tooth neuropathy. GO annotations related to this gene include structural molecule activity.

UniProtKB/Swiss-Prot for SYNC Gene

  • Atypical type III intermediate filament (IF) protein that may play a supportive role in the efficient coupling of mechanical stress between the myofibril and fiber exterior. May facilitate lateral force transmission during skeletal muscle contraction. Does not form homofilaments nor heterofilaments with other IF proteins.

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

Genomics for SYNC Gene

Regulatory Elements for SYNC Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SYNC Gene

Chromosome:
1
Start:
32,679,906 bp from pter
End:
32,703,596 bp from pter
Size:
23,691 bases
Orientation:
Minus strand

Genomic View for SYNC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for SYNC Gene

Proteins for SYNC Gene

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

    Protein Symbol:
    Q9H7C4-SYNCI_HUMAN
    Recommended name:
    Syncoilin
    Protein Accession:
    Q9H7C4
    Secondary Accessions:
    • B4DNK8
    • B4DY58
    • C9IY41

    Protein attributes for SYNC Gene

    Size:
    482 amino acids
    Molecular mass:
    55299 Da
    Quaternary structure:
    • May link the dystrophin-associated glycoprotein complex (DAPC) to intracellular desmin (DES) filaments. Interacts with DES and DTNA.
    SequenceCaution:
    • Sequence=AAI19701.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI19702.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14970.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SYNC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYNC Gene

Proteomics data for SYNC Gene at MOPED

Post-translational modifications for SYNC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SYNC Gene

Antibody Products

No data available for DME Specific Peptides for SYNC Gene

Domains & Families for SYNC Gene

Gene Families for SYNC Gene

Protein Domains for SYNC Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SYNC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H7C4

UniProtKB/Swiss-Prot:

SYNCI_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with SYNC: view

Function for SYNC Gene

Molecular function for SYNC Gene

UniProtKB/Swiss-Prot Function:
Atypical type III intermediate filament (IF) protein that may play a supportive role in the efficient coupling of mechanical stress between the myofibril and fiber exterior. May facilitate lateral force transmission during skeletal muscle contraction. Does not form homofilaments nor heterofilaments with other IF proteins.
UniProtKB/Swiss-Prot Induction:
Up-regulated at the sarcolemma in individuals with various forms of neuromuscular disease.

Gene Ontology (GO) - Molecular Function for SYNC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with SYNC: view
genes like me logo Genes that share phenotypes with SYNC: view

Animal Models for SYNC Gene

MGI Knock Outs for SYNC:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SYNC

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SYNC Gene

Localization for SYNC Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNC Gene

Cytoplasm, perinuclear region. Note=In skeletal muscle, colocalizes with DES and DTNA, and is localized at the myotendinous and neuromuscular junctions, sarcolemma and Z-lines. In myotubes, detected in a punctate cytoplasmic pattern (By similarity). {ECO:0000250 UniProtKB:Q9EPM5}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SYNC Gene COMPARTMENTS Subcellular localization image for SYNC gene
Compartment Confidence
cytoskeleton 3
cytosol 2
golgi apparatus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for SYNC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol IEA --
GO:0005882 intermediate filament IEA --
GO:0030018 Z disc IEA --
GO:0031594 neuromuscular junction IEA --
genes like me logo Genes that share ontologies with SYNC: view

Pathways & Interactions for SYNC Gene

SuperPathways for SYNC Gene

No Data Available

Interacting Proteins for SYNC Gene

Gene Ontology (GO) - Biological Process for SYNC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045103 intermediate filament-based process IEA --
genes like me logo Genes that share ontologies with SYNC: view

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

Drugs & Compounds for SYNC Gene

(1) Additional Compounds for SYNC Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
DAPC
genes like me logo Genes that share compounds with SYNC: view

Transcripts for SYNC Gene

mRNA/cDNA for SYNC Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SYNC Gene

Syncoilin, intermediate filament protein:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SYNC

Flow Cytometry Products

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

No ASD Table

Relevant External Links for SYNC Gene

GeneLoc Exon Structure for
SYNC
ECgene alternative splicing isoforms for
SYNC

Expression for SYNC Gene

mRNA expression in normal human tissues for SYNC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Muscle - Skeletal (x11.2) and Esophagus - Muscularis (x4.4).

Protein differential expression in normal tissues from HIPED for SYNC Gene

This gene is overexpressed in Adrenal (24.7), Monocytes (9.4), and Rectum (8.0).

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



SOURCE GeneReport for Unigene cluster for SYNC Gene Hs.712631

genes like me logo Genes that share expression patterns with SYNC: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SYNC Gene

Orthologs for SYNC Gene

This gene was present in the common ancestor of chordates.

Orthologs for SYNC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SYNC 36
  • 99 (a)
OneToOne
SYNC 35
  • 98.96 (n)
  • 98.34 (a)
mouse
(Mus musculus)
Mammalia Sync 36
  • 78 (a)
OneToOne
Sync 16
Sync 35
  • 81.17 (n)
  • 79.1 (a)
oppossum
(Monodelphis domestica)
Mammalia SYNC 36
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SYNC 36
  • 79 (a)
OneToOne
SYNC 35
  • 85.66 (n)
  • 83.62 (a)
cow
(Bos Taurus)
Mammalia SYNC 36
  • 81 (a)
OneToOne
SYNC 35
  • 85.08 (n)
  • 80.96 (a)
rat
(Rattus norvegicus)
Mammalia Sync 35
  • 80.57 (n)
  • 78.51 (a)
chicken
(Gallus gallus)
Aves SYNC 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYNC 36
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii sync 36
  • 26 (a)
OneToOne
sync 35
  • 48.4 (n)
  • 34.06 (a)
Species with no ortholog for SYNC:
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SYNC Gene

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

Paralogs for SYNC Gene

No data available for Paralogs for SYNC Gene

Variants for SYNC Gene

Sequence variations from dbSNP and Humsavar for SYNC Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs191701 -- 32,692,125(-) cctcc(C/T)gagta intron-variant
rs191702 -- 32,691,196(-) ctgtc(A/G)cccag intron-variant
rs360028 -- 32,692,241(-) atgat(G/T)atTAT intron-variant
rs360029 -- 32,692,094(-) ccacc(A/G)cacca intron-variant
rs360030 -- 32,692,028(-) gtctc(C/G)atctc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv461039 CNV Loss 19166990
nsv519188 CNV Loss 19592680
esv2746530 CNV Deletion 23290073
esv2746541 CNV Deletion 23290073
esv2661423 CNV Deletion 23128226
nsv509158 CNV Insertion 20534489

Variation tolerance for SYNC Gene

Gene Damage Index Score: 4.87; 67.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SYNC Gene

HapMap Linkage Disequilibrium report
SYNC

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

Disorders for SYNC Gene

MalaCards: The human disease database

(3) MalaCards diseases for SYNC Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
myofibrillar myopathy
  • alpha beta crystallinopathy
intermediate charcot-marie-tooth neuropathy
neuromuscular disease
  • neuromuscular disorders
- elite association
Search SYNC in MalaCards View complete list of genes associated with diseases

Relevant External Links for SYNC

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SYNC
genes like me logo Genes that share disorders with SYNC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SYNC Gene

Publications for SYNC Gene

  1. Dysbindin, syncoilin, and beta-synemin mRNA levels in dystrophic muscles. (PMID: 20199207) Wakayama Y. … Masaki H. (Int. J. Neurosci. 2010) 23 67
  2. Syncoilin is required for generating maximum isometric stress in skeletal muscle but dispensable for muscle cytoarchitecture. (PMID: 18367591) Zhang J. … Chen J. (Am. J. Physiol., Cell Physiol. 2008) 23 67
  3. Syncoilin, an intermediate filament-like protein linked to the dystrophin associated protein complex in skeletal muscle. (PMID: 18810324) Moorwood C. (Cell. Mol. Life Sci. 2008) 23 67
  4. Porcine circovirus type 2 replicase binds the capsid protein and an intermediate filament-like protein. (PMID: 17030855) Timmusk S. … Berg M. (J. Gen. Virol. 2006) 23 67
  5. Muscular dystrophies related to the cytoskeleton/nuclear envelope. (PMID: 15773750) Nowak K. … Davies K.E. (Novartis Found. Symp. 2005) 23 67

Products for SYNC Gene

Sources for SYNC Gene

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