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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.

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

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
GH01F032626 0.2 ENCODE 20.2 +75.7 75703 2.2 CTCF BCOR PKNOX1 MTA2 BHLHE40 ZMYM3 TBX21 IKZF1 NBN ZBTB33 SYNC RBBP4 ZBTB8OS ZBTB8A EIF3I TMEM234 ENSG00000224066 DCDC2B GC01M032619 LOC102723870
GH01F032636 0.9 Ensembl ENCODE 19.8 +66.4 66371 2.1 MAFG MNT ZNF316 KLF9 NFE2 EMSY NFE2L2 TCF7L2 SYNC ZBTB8A FNDC5 RBBP4 GC01P032641 GC01M032619
GH01F032771 0.7 ENCODE 11.9 -70.5 -70522 5.1 HDGF SIN3A ARID4B ZNF48 ZNF2 ZNF766 GLIS2 ZNF143 ZNF548 PAF1 KPNA6 FNDC5 EIF3I KIAA1522 ENSG00000224409 SYNC YARS S100PBP RBBP4 ZBTB8OS
GH01F032763 1.1 Ensembl ENCODE 11.9 -62.5 -62459 4.3 KLF1 KLF17 ZIC2 ZFHX2 POLR2A PATZ1 PRDM10 MAFK MAZ USF2 FNDC5 S100PBP KIAA1522 ENSG00000224066 ENSG00000224409 SYNC YARS IQCC DCDC2B
GH01F032788 0.7 ENCODE 11.9 -85.8 -85826 1.3 TBP PKNOX1 SIN3A ZNF48 YY1 ZNF121 ZNF335 GLIS2 ZNF366 FOS FNDC5 S100PBP YARS SYNC KIAA1522
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001518973 996 1601 HDAC1 PKNOX1 SIN3A KLF17 NFXL1 FEZF1 GLIS2 KLF7 ZNF391 KLF13

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

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 --
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

Inhibitory RNA Products

Flow Cytometry Products

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
Jensen Localization Image for SYNC Gene COMPARTMENTS Subcellular localization image for SYNC gene
Compartment Confidence
cytoskeleton 4
plasma membrane 4
cytosol 3
nucleus 3
golgi apparatus 2
extracellular 1
mitochondrion 1
peroxisome 1

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

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
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

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 from GTEx, Illumina, BioGPS, and 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
genes like me logo Genes that share expression patterns with SYNC: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 34 35
  • 98.96 (n)
dog
(Canis familiaris)
Mammalia SYNC 34 35
  • 85.66 (n)
cow
(Bos Taurus)
Mammalia SYNC 34 35
  • 85.08 (n)
mouse
(Mus musculus)
Mammalia Sync 34 16 35
  • 81.17 (n)
rat
(Rattus norvegicus)
Mammalia Sync 34
  • 80.57 (n)
oppossum
(Monodelphis domestica)
Mammalia SYNC 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SYNC 35
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYNC 35
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii sync 34 35
  • 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
rs10127811 -- 32,685,741(+) AGGTA(C/T)AAAAG intron-variant, utr-variant-3-prime
rs1045114 -- 32,681,307(+) ATTTT(A/C)AGAGT utr-variant-3-prime
rs1062305 -- 32,683,022(+) CTCAC(A/G)CCTGA intron-variant, utr-variant-3-prime
rs1065152 -- 32,683,007(+) ggcca(A/G)gcatg intron-variant, utr-variant-3-prime
rs10914594 -- 32,692,003(+) cgagg(C/T)gggcg 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

(2) MalaCards diseases for SYNC Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuromuscular disease
  • neuromuscular diseases
intermediate charcot-marie-tooth neuropathy
- 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 S.C. … Muntoni F. (Muscle Nerve 2005) 3 4 22 64
  2. Dysbindin, syncoilin, and beta-synemin mRNA levels in dystrophic muscles. (PMID: 20199207) Wakayama Y. … Masaki H. (Int. J. Neurosci. 2010) 3 22 64
  3. Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex. (PMID: 11694502) Poon E. … Davies K.E. (J. Biol. Chem. 2002) 3 22 64
  4. Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle. (PMID: 11053421) Newey S.E. … Blake D.J. (J. Biol. Chem. 2001) 2 3 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for SYNC Gene

Sources for SYNC Gene

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