The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural s... See more...

Aliases for SYNM Gene

Aliases for SYNM Gene

  • Synemin 2 3 4 5
  • Desmuslin 2 3 4
  • SYN 2 3 4
  • Synemin, Intermediate Filament Protein 2 3
  • Synemin Alpha 2 3
  • Synemin Beta 2 3
  • KIAA0353 2 4
  • DMN 3 4
  • EC 2.6.1.16 51
  • EC 1.4.99.1 51
  • SYNM 5

External Ids for SYNM Gene

Previous HGNC Symbols for SYNM Gene

  • DMN

Previous GeneCards Identifiers for SYNM Gene

  • GC15P097463
  • GC15P099645
  • GC15P075774

Summaries for SYNM Gene

Entrez Gene Summary for SYNM Gene

  • The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SYNM Gene

SYNM (Synemin) is a Protein Coding gene. Diseases associated with SYNM include Alexander Disease and Myopathy, Myofibrillar, 1. Among its related pathways are Cytoskeleton remodeling Neurofilaments. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of muscle. An important paralog of this gene is NES.

UniProtKB/Swiss-Prot Summary for SYNM Gene

  • Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteropolymeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteropolymeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SYNM Gene

Genomics for SYNM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SYNM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SYNM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SYNM

Top Transcription factor binding sites by QIAGEN in the SYNM gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • HEN1
  • HFH-1
  • NF-1
  • Nkx5-1
  • NRSF form 2
  • Pax-6

Genomic Locations for SYNM Gene

Latest Assembly
chr15:99,098,217-99,136,586
(GRCh38/hg38)
Size:
38,370 bases
Orientation:
Plus strand

Previous Assembly
chr15:99,645,286-99,675,798
(GRCh37/hg19 by Entrez Gene)
Size:
30,513 bases
Orientation:
Plus strand

chr15:99,638,420-99,675,798
(GRCh37/hg19 by Ensembl)
Size:
37,379 bases
Orientation:
Plus strand

Genomic View for SYNM Gene

Genes around SYNM on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SYNM Gene

Proteins for SYNM Gene

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

    Protein Symbol:
    O15061-SYNEM_HUMAN
    Recommended name:
    Synemin
    Protein Accession:
    O15061
    Secondary Accessions:
    • A7E2Y2
    • Q2TBJ4
    • Q5NJJ9
    • Q8TE61
    • Q8TE62

    Protein attributes for SYNM Gene

    Size:
    1565 amino acids
    Molecular mass:
    172768 Da
    Quaternary structure:
    • Interacts with GFAP and VIM (By similarity). Isoform 1 interacts with TLN1 and VCL. Isoform 2 interacts with DES and DTNA. Isoform 1 and isoform 2 interact with DMD and UTRN.
    SequenceCaution:
    • Sequence=AAI10067.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA20810.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SYNM Gene

    Alternative splice isoforms for SYNM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYNM Gene

Selected DME Specific Peptides for SYNM Gene

O15061:
  • STIARES
  • GGDLSQA

Post-translational modifications for SYNM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SYNM Gene

Domains & Families for SYNM Gene

Gene Families for SYNM Gene

Protein Domains for SYNM Gene

Suggested Antigen Peptide Sequences for SYNM Gene

GenScript: Design optimal peptide antigens:
  • Desmuslin (SYNEM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15061

UniProtKB/Swiss-Prot:

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

Function for SYNM Gene

Molecular function for SYNM Gene

UniProtKB/Swiss-Prot Function:
Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteropolymeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteropolymeric IFs to adherens-type junctions, such as to the costameres, neuromuscular junctions, and myotendinous junctions within striated muscle cells.

Enzyme Numbers (IUBMB) for SYNM Gene

Phenotypes From GWAS Catalog for SYNM Gene

Gene Ontology (GO) - Molecular Function for SYNM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton IEA,IDA 11737198
GO:0005515 protein binding IPI 11353857
GO:0008307 structural constituent of muscle IEA,IDA 11737198
GO:0017166 vinculin binding IBA,IDA 18028034
GO:0019215 intermediate filament binding IBA,ISS --
genes like me logo Genes that share ontologies with SYNM: view
genes like me logo Genes that share phenotypes with SYNM: view

Animal Models for SYNM Gene

MGI Knock Outs for SYNM:
  • Synm Synm<tm1.1Ics>
  • Synm Synm<tm1.1(KOMP)Vlcg>

miRNA for SYNM Gene

miRTarBase miRNAs that target SYNM

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNM

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SYNM Gene

Localization for SYNM Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYNM Gene

Cytoplasm, cytoskeleton. Cell junction, adherens junction. Note=There are at least two distinct SYNM subpopulations, one in which SYMN interacts with DES within the Z-lines, and another in which it interacts with both DTNA and DES at the costamere.

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 SYNM gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
nucleus 3
cytosol 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SYNM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005882 intermediate filament IEA,NAS 11353857
GO:0005912 adherens junction IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with SYNM: view

Pathways & Interactions for SYNM Gene

PathCards logo

SuperPathways for SYNM Gene

SuperPathway Contained pathways
1 Cytoskeleton remodeling Neurofilaments
.32
genes like me logo Genes that share pathways with SYNM: view

Pathways by source for SYNM Gene

1 GeneGo (Thomson Reuters) pathway for SYNM Gene
  • Cytoskeleton remodeling Neurofilaments

Gene Ontology (GO) - Biological Process for SYNM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031443 fast-twitch skeletal muscle fiber contraction IBA 21873635
GO:0045104 intermediate filament cytoskeleton organization IEA,TAS 16777071
genes like me logo Genes that share ontologies with SYNM: view

No data available for SIGNOR curated interactions for SYNM Gene

Drugs & Compounds for SYNM Gene

No Compound Related Data Available

Transcripts for SYNM Gene

mRNA/cDNA for SYNM Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNM

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2:

Relevant External Links for SYNM Gene

GeneLoc Exon Structure for
SYNM

Expression for SYNM Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Esophagus - Muscularis (x8.1), Esophagus - Gastroesophageal Junction (x6.3), Colon - Sigmoid (x6.1), Bladder (x4.5), and Muscle - Skeletal (x4.3).

Protein differential expression in normal tissues from HIPED for SYNM Gene

This gene is overexpressed in Urinary Bladder (32.0), Colon muscle (13.6), and Colon (6.0).

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



Protein tissue co-expression partners for SYNM Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SYNM

SOURCE GeneReport for Unigene cluster for SYNM Gene:

Hs.207106

mRNA Expression by UniProt/SwissProt for SYNM Gene:

O15061-SYNEM_HUMAN
Tissue specificity: Isoform 2 is strongly detected in adult heart, fetal skeletal muscles and fetal heart. Isoform 1 is weakly detected in fetal heart and also in fetal skeletal muscle. Isoform 1 and isoform 2 are detected in adult bladder (at protein level). The mRNA is predominantly expressed in heart and muscle with some expression in brain which may be due to tissue-specific isoforms.

Evidence on tissue expression from TISSUES for SYNM Gene

  • Nervous system(4.8)
  • Muscle(4.7)
  • Liver(4.3)
  • Heart(3.2)
  • Intestine(3)
  • Eye(2.9)
  • Gall bladder(2.1)
genes like me logo Genes that share expression patterns with SYNM: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SYNM Gene

Orthologs for SYNM Gene

This gene was present in the common ancestor of chordates.

Orthologs for SYNM Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SYNM 30 31
  • 98.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SYNM 30 31
  • 79.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Synm 30
  • 76.91 (n)
Mouse
(Mus musculus)
Mammalia Synm 30 17 31
  • 76.88 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SYNM 31
  • 64 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SYNM 31
  • 51 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SYNM 31
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SYNM 30 31
  • 54.49 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SYNM 31
  • 26 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia synm 30
  • 48.37 (n)
Zebrafish
(Danio rerio)
Actinopterygii synm 30 31
  • 47.8 (n)
OneToOne
Species where no ortholog for SYNM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 SYNM Gene

ENSEMBL:
Gene Tree for SYNM (if available)
TreeFam:
Gene Tree for SYNM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SYNM: view image

Paralogs for SYNM Gene

(2) SIMAP similar genes for SYNM Gene using alignment to 3 proteins:

  • SYNEM_HUMAN
  • C9JIE4_HUMAN
  • H0YL34_HUMAN
genes like me logo Genes that share paralogs with SYNM: view

Variants for SYNM Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SYNM Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
932418 Likely Benign: not provided 99,105,682(+) C/T
NM_145728.3(SYNM):c.483C>T (p.Ser161=)
SYNONYMOUS
rs113339047 Benign: not provided 99,130,556(+) C/T
NM_145728.3(SYNM):c.2196C>T (p.Leu732=)
SYNONYMOUS
rs114631265 Benign: not provided 99,130,599(+) G/A
NM_145728.3(SYNM):c.2239G>A (p.Glu747Lys)
MISSENSE
rs115301553 Benign: not provided 99,131,601(+) G/A
NM_145728.3(SYNM):c.3241G>A (p.Glu1081Lys)
MISSENSE
rs117317703 Benign: not provided 99,131,570(+) C/T
NM_145728.3(SYNM):c.3210C>T (p.Thr1070=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SYNM Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv4767n54 CNV loss 21841781
dgv4768n54 CNV gain 21841781
esv22082 CNV loss 19812545
esv22522 CNV loss 19812545
esv2667911 CNV deletion 23128226
esv2750111 CNV deletion 23290073
esv3211568 CNV deletion 24192839
esv3552929 CNV deletion 23714750
esv3637420 CNV loss 21293372
esv3892741 CNV gain 25118596
esv4381 CNV loss 18987735
esv9228 CNV loss 19470904
esv987621 CNV deletion 20482838
nsv1036320 CNV loss 25217958
nsv1045124 CNV gain 25217958
nsv1055008 CNV gain 25217958
nsv1686 CNV insertion 18451855
nsv474812 CNV novel sequence insertion 20440878
nsv476611 CNV novel sequence insertion 20440878
nsv479175 CNV novel sequence insertion 20440878
nsv480439 CNV novel sequence insertion 20440878
nsv509583 CNV insertion 20534489
nsv512412 CNV loss 21212237
nsv570716 CNV gain 21841781
nsv570717 CNV loss 21841781
nsv570718 CNV loss 21841781
nsv570719 CNV loss 21841781
nsv570720 CNV gain+loss 21841781
nsv570723 CNV gain 21841781
nsv570726 CNV loss 21841781
nsv570727 CNV loss 21841781

Variation tolerance for SYNM Gene

Gene Damage Index Score: 13.39; 95.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SYNM Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for SYNM Gene

MalaCards: The human disease database

(12) MalaCards diseases for SYNM Gene - From: COP and GCD

Disorder Aliases PubMed IDs
alexander disease
  • alxdrd
myopathy, myofibrillar, 1
  • mfm1
giant axonal neuropathy 2
pleomorphic xanthoastrocytoma
  • pleomorphic xantho-astrocytoma
myopathy, myofibrillar, 3
  • mfm3
- elite association - COSMIC cancer census association via MalaCards
Search SYNM in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SYNM

genes like me logo Genes that share disorders with SYNM: view

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

Publications for SYNM Gene

  1. Human synemin gene generates splice variants encoding two distinct intermediate filament proteins. (PMID: 11737198) Titeux M … Li Z (European journal of biochemistry 2001) 2 3 4 23
  2. Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3. (PMID: 11454237) Mizuno Y … Kunkel LM (BMC genetics 2001) 2 3 4 23
  3. Human alpha-synemin interacts directly with vinculin and metavinculin. (PMID: 18028034) Sun N … Robson RM (The Biochemical journal 2008) 3 4 23
  4. Identification of a repeated domain within mammalian alpha-synemin that interacts directly with talin. (PMID: 18342854) Sun N … Robson RM (Experimental cell research 2008) 3 4 23
  5. Interactions of intermediate filament protein synemin with dystrophin and utrophin. (PMID: 16777071) Bhosle RC … Robson RM (Biochemical and biophysical research communications 2006) 3 4 23

Products for SYNM Gene

Sources for SYNM Gene