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Aliases for SYNC Gene

Aliases for SYNC Gene

  • Syncoilin, Intermediate Filament Protein 2 3 5
  • Syncoilin Intermediate Filament 1 3 4
  • Syncoilin-1 3 4
  • SYNC1 3 4
  • Intermediate Filament Protein Syncoilin 3
  • Syncoilin, Intermediate Filament 1 2
  • 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 Neuromuscular Disease 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.

Additional gene information for SYNC Gene

No data available for CIViC summary , 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

Enhancers for SYNC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H032756 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -56.6 -56573 6 HDGF PKNOX1 FOXA2 ARID4B SIN3A YY1 FOS SP5 MXD4 SMARCB1 FNDC5 S100PBP TXLNA ZBTB8B ENSG00000224409 RBBP4 ZBTB8A SYNC KPNA6 ADGRB2
GH01H032753 1.7 FANTOM5 ENCODE dbSUPER 11.4 -51.3 -51328 2 HDGF PKNOX1 ARNT SIN3A ZNF2 ZNF766 SP3 REST ZNF592 MEF2D ZBTB8B ENSG00000224409 SYNC AZIN2 FNDC5 S100PBP KIAA1522
GH01H032636 0.9 Ensembl ENCODE 19.8 +66.3 66347 2 MAFG MNT FOXA1 ZNF217 ZNF316 KLF9 NFE2 EMSY NFE2L2 TCF7L2 SYNC ZBTB8A FNDC5 RBBP4 GC01P032641 GC01M032619
GH01H032763 1.2 Ensembl ENCODE dbSUPER 11.9 -62.5 -62459 4 MAZ KLF1 KLF17 USF2 ZBTB8A PAX8 ZIC2 FOXA1 ZFHX2 POLR2A FNDC5 S100PBP KIAA1522 ENSG00000224409 SYNC YARS
GH01H032771 1.2 ENCODE dbSUPER 11.9 -70.5 -70522 5 HDGF PKNOX1 ARID4B ZNF2 GLIS2 ZNF143 ATF7 PAF1 REST ZNF592 FNDC5 KIAA1522 ENSG00000224409 SYNC YARS S100PBP RBBP4 ZBTB8OS LOC105378629
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SYNC on UCSC Golden Path with GeneCards custom track

Promoters for SYNC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000004390 896 1001 HDAC1 PKNOX1 ATF1 RB1 KLF17 FEZF1 NFXL1 GLIS2 KLF7 ATF7

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

Genes around SYNC on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for SYNC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SYNC Gene

Antibody Products

  • Abcam antibodies for SYNC

No data available for DME Specific Peptides for SYNC Gene

Domains & Families for SYNC Gene

Gene Families for SYNC Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for SYNC Gene

Gene Ontology (GO) - Molecular Function for SYNC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SYNC
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 SYNC gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 3
cytosol 3
golgi apparatus 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SYNC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
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

No Data Available

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
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SYNC
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of SYNC Gene:

SYNC

SOURCE GeneReport for Unigene cluster for SYNC Gene:

Hs.712631

Evidence on tissue expression from TISSUES for SYNC Gene

  • Muscle(2.6)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with SYNC: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 98.96 (n)
dog
(Canis familiaris)
Mammalia SYNC 33 34
  • 85.66 (n)
cow
(Bos Taurus)
Mammalia SYNC 33 34
  • 85.08 (n)
mouse
(Mus musculus)
Mammalia Sync 34 16 33
  • 81.17 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sync 33
  • 80.57 (n)
oppossum
(Monodelphis domestica)
Mammalia SYNC 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SYNC 34
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYNC 34
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii sync 33 34
  • 48.4 (n)
Species where no ortholog for SYNC 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)
  • 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
rs1000033074 -- 32,681,044(+) CCTTT(A/G)CTTAG utr-variant-3-prime
rs1000406000 -- 32,703,451(+) TTCAA(A/G)ACATA upstream-variant-2KB
rs1000521395 -- 32,679,550(+) ATTTA(-/CT)CTCTG intron-variant, downstream-variant-500B
rs1000572315 -- 32,697,723(+) AACAG(A/G)GACCC intron-variant
rs1000691025 -- 32,691,794(+) GTGGC(A/T)ATTAG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2661423 CNV deletion 23128226
esv2746530 CNV deletion 23290073
esv2746541 CNV deletion 23290073
esv3560438 CNV deletion 23714750
nsv1075806 CNV deletion 25765185
nsv461039 CNV loss 19166990
nsv509158 CNV insertion 20534489
nsv519188 CNV loss 19592680
nsv545961 CNV loss 21841781
nsv945873 CNV duplication 23825009

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
neuromuscular disease
  • neuromuscular diseases
intermediate charcot-marie-tooth neuropathy
epidermolysis bullosa simplex with muscular dystrophy
  • epidermolysis bullosa simplex and limb-girdle muscular dystrophy
- elite association - COSMIC cancer census association via MalaCards
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. Syncoilin upregulation in muscle of patients with neuromuscular disease. (PMID: 16124004) Brown SC … Muntoni F (Muscle & nerve 2005) 3 4 22 60
  2. Dysbindin, syncoilin, and beta-synemin mRNA levels in dystrophic muscles. (PMID: 20199207) Wakayama Y … Masaki H (The International journal of neuroscience 2010) 3 22 60
  3. Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex. (PMID: 11694502) Poon E … Davies KE (The Journal of biological chemistry 2002) 3 22 60
  4. Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle. (PMID: 11053421) Newey SE … Blake DJ (The Journal of biological chemistry 2001) 2 3 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for SYNC Gene

Sources for SYNC Gene

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