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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
External Ids for SYNM Gene
- HGNC: 24466
- NCBI Entrez Gene: 23336
- Ensembl: ENSG00000182253
- OMIM®: 606087
- UniProtKB/Swiss-Prot: O15061
Previous HGNC Symbols for SYNM Gene
- DMN
Previous GeneCards Identifiers for SYNM Gene
- GC15P097463
- GC15P099645
- GC15P075774
Summaries 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.
Additional gene information for SYNM Gene
- HGNC (24466)
- NCBI Entrez Gene (23336)
- Ensembl (ENSG00000182253)
- OMIM® (606087)
- UniProtKB/Swiss-Prot (O15061)
- Open Targets Platform(ENSG00000182253)
- Search for SYNM at DataMed
- Search for SYNM at HumanCyc
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:
-
- 15q26.3 by HGNC
- 15q26.3 by Entrez Gene
- 15q26.3 by Ensembl
SYNM Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for SYNM Gene
Selected DME Specific Peptides for SYNM Gene
- O15061:
-
- STIARES
- GGDLSQA
Post-translational modifications for SYNM Gene
Other Protein References for SYNM Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences DMN / Desmuslin / Synemin Monoclonal Antibody
- Novus Biologicals Antibodies for SYNM
- Invitrogen Antibodies for SYNM (AFLGC-SYNM)
-
Santa Cruz Biotechnology (SCBT) Antibodies for SYNM
Protein products for research
-
OriGene Purified Proteins for SYNM
- Search Origene for MassSpec and Protein Over-expression Lysates for SYNM
- Origene Custom Protein Services for SYNM
- Novus Biologicals proteins for SYNM
- antibodies-online: Show 3 available SYNM Proteins ranked by validation data
- Compare Top SYNM Proteins
-
Quality Products:
-
Abcam proteins for SYNM
Assay products for research
- antibodies-online: Search results for available SYNM related products ranked by validation data
Domains & Families for SYNM Gene
Gene Families for SYNM Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for SYNM Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SYNM Gene
- GenScript: Design optimal peptide antigens:
-
- Desmuslin (SYNEM_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O15061- Family:
-
- Belongs to the intermediate filament family.
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
| 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 | -- |
Phenotypes for SYNM Gene
- MGI mutant phenotypes for SYNM:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SYNM:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SYNM - Starting at $85 >
- * SYNM CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SYNM
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SYNM
-
Santa Cruz Biotechnology (SCBT) CRISPR for SYNM
miRNA for SYNM Gene
- miRTarBase miRNAs that target SYNM
-
- hsa-miR-331-3p (MIRT043331)
- hsa-miR-203a-3p (MIRT282645)
- hsa-miR-224-3p (MIRT282646)
- hsa-miR-522-3p (MIRT282647)
- hsa-miR-3613-3p (MIRT282648)
- hsa-miR-3646 (MIRT282649)
- hsa-miR-3662 (MIRT282650)
- hsa-miR-6080 (MIRT282652)
- hsa-miR-18a-5p (MIRT282668)
- hsa-miR-18b-5p (MIRT282670)
- hsa-miR-3678-3p (MIRT282672)
- hsa-miR-3919 (MIRT282673)
- hsa-miR-4475 (MIRT282674)
- hsa-miR-4639-5p (MIRT282675)
- hsa-miR-4735-3p (MIRT282676)
- hsa-miR-6741-5p (MIRT282678)
- hsa-miR-6892-5p (MIRT282679)
- hsa-miR-7706 (MIRT282680)
- hsa-miR-4635 (MIRT444031)
- hsa-miR-488-3p (MIRT444032)
- hsa-miR-4429 (MIRT444033)
- hsa-miR-320d (MIRT444034)
- hsa-miR-320c (MIRT444035)
- hsa-miR-320b (MIRT444036)
- hsa-miR-320a (MIRT444037)
- hsa-miR-885-5p (MIRT525362)
- hsa-miR-6512-5p (MIRT525363)
- hsa-miR-548t-3p (MIRT525364)
- hsa-miR-548ap-3p (MIRT525365)
- hsa-miR-548aa (MIRT525366)
- hsa-miR-548z (MIRT525367)
- hsa-miR-548h-3p (MIRT525368)
- hsa-miR-548d-3p (MIRT525369)
- hsa-miR-548bb-3p (MIRT525370)
- hsa-miR-548ac (MIRT525371)
- hsa-miR-96-5p (MIRT525372)
- hsa-miR-1271-5p (MIRT525373)
- hsa-miR-7150 (MIRT525374)
- hsa-miR-182-5p (MIRT525375)
- hsa-miR-664b-3p (MIRT525376)
- hsa-miR-5696 (MIRT525377)
- hsa-miR-579-3p (MIRT525378)
- hsa-miR-6853-3p (MIRT525379)
- hsa-miR-4705 (MIRT525380)
- hsa-miR-34c-3p (MIRT525381)
- hsa-miR-5000-5p (MIRT525382)
- hsa-miR-34b-3p (MIRT525383)
- hsa-miR-2467-3p (MIRT546352)
- hsa-miR-215-5p (MIRT546353)
- hsa-miR-192-5p (MIRT546354)
- hsa-miR-5579-5p (MIRT546355)
- hsa-miR-519e-3p (MIRT546356)
- hsa-miR-515-3p (MIRT546357)
- hsa-miR-33b-3p (MIRT546358)
- hsa-miR-371a-3p (MIRT546359)
- hsa-miR-371b-3p (MIRT546360)
- hsa-miR-1183 (MIRT546361)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SYNM
- Browse OriGene Inhibitory RNA Products For SYNM
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNM
Clone products for research
- Applied Biological Materials (abm): Clones for SYNM - Starting at $45 >
- * SYNM as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG223367
- MG224051
- MG224870
- MR223367
- MR223367L3
- MR223367L4
- MR224051
- MR224051L3
- MR224051L4
- MR224870
- MR224870L3
- MR224870L4
- RC211580
- RC215288
- RC215288L1
- RC215288L2
- RC215288L3
- RC215288L4
- RG211580
- RG215288
- RR201120
- MR223367L3V
- MR223367L4V
- MR224051L3V
- MR224051L4V
- MR224870L3V
- MR224870L4V
- RC215288L1V
- RC215288L2V
- RC215288L3V
- RC215288L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SYNM
- Addgene plasmids for SYNM
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SYNM
Cell Lines for research
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| plasma membrane | 4 |
| nucleus | 3 |
| cytosol | 3 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Intermediate filaments (3)
| 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 | -- |
Pathways & Interactions for SYNM Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytoskeleton remodeling Neurofilaments |
Cytoskeleton remodeling Neurofilaments
.32
|
|
Pathways by source for SYNM Gene
1 GeneGo (Thomson Reuters) pathway for SYNM Gene
- Cytoskeleton remodeling Neurofilaments
Interacting Proteins for SYNM Gene
Selected Interacting proteins:
O15061-SYNEM_HUMAN
ENSP00000336775
for SYNM Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SYNM
| 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 |
No data available for SIGNOR curated interactions for SYNM Gene
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 :
-
- ENST00000328642 3960 nts (view in UCSC)
- ENST00000336292 7353 nts (view in UCSC)
- ENST00000560674 5908 nts (view in UCSC)
- ENST00000594047 6407 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SYNM - Starting at $85 >
- * SYNM CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SYNM
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SYNM
-
Santa Cruz Biotechnology (SCBT) CRISPR for SYNM
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SYNM
- Browse OriGene Inhibitory RNA Products For SYNM
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SYNM
Clone products for research
- Applied Biological Materials (abm): Clones for SYNM - Starting at $45 >
- * SYNM as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG223367
- MG224051
- MG224870
- MR223367
- MR223367L3
- MR223367L4
- MR224051
- MR224051L3
- MR224051L4
- MR224870
- MR224870L3
- MR224870L4
- RC211580
- RC215288
- RC215288L1
- RC215288L2
- RC215288L3
- RC215288L4
- RG211580
- RG215288
- RR201120
- MR223367L3V
- MR223367L4V
- MR224051L3V
- MR224051L4V
- MR224870L3V
- MR224870L4V
- RC215288L1V
- RC215288L2V
- RC215288L3V
- RC215288L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SYNM
- Addgene plasmids for SYNM
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SYNM
| 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 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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SYNM
SOURCE GeneReport for Unigene cluster for SYNM Gene:
Hs.207106mRNA 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)
Primer products for research
-
OriGene qPCR primer pairs for SYNM
Gene Expression Assays 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SYNM 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SYNM 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Synm 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Synm 30 17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SYNM 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SYNM 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SYNM 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SYNM 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SYNM 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | synm 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | synm 30 31 |
|
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
Paralogs for SYNM Gene
- NES 5
- LMNB2 5
- LMNB1 5
- LMNA 5
- NEFM 5
- VIM 5
- NEFL 5
- PRPH 5
- INA 5
- KRT10 5
- KRT12 5
- KRT39 5
- KRT15 5
- KRT14 5
- KRT16 5
- KRT17 5
- GFAP 5
- DES 5
- KRT86 5
- KRT81 5
- KRT85 5
- KRT84 5
- KRT82 5
- KRT6A 5
- KRT3 5
- KRT78 5
- KRT8 5
- KRT18 5
- KRT24 5
- KRT25 5
- KRT26 5
- KRT27 5
- KRT28 5
- KRT20 5
- KRT23 5
- KRT40 5
- KRT33A 5
- KRT33B 5
- KRT34 5
- KRT31 5
- KRT37 5
- KRT38 5
- KRT32 5
- KRT35 5
- KRT36 5
- KRT13 5
- KRT19 5
- KRT9 5
- KRT80 5
- KRT7 5
- KRT83 5
- KRT75 5
- KRT6B 5
- KRT6C 5
- KRT5 5
- KRT71 5
- KRT74 5
- KRT72 5
- KRT73 5
- KRT2 5
- KRT1 5
- KRT77 5
- KRT76 5
- KRT4 5
- KRT79 5
- BFSP2 5
- ENSG00000264058 5
- KRT222 5
- LMNTD1 5
(2) SIMAP similar genes for SYNM Gene using alignment to 3 proteins:
- SYNEM_HUMAN
- C9JIE4_HUMAN
- H0YL34_HUMAN
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alexander disease |
|
|
| myopathy, myofibrillar, 1 |
|
|
| giant axonal neuropathy 2 |
|
|
| pleomorphic xanthoastrocytoma |
|
|
| myopathy, myofibrillar, 3 |
|
|
Search SYNM in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SYNM
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SYNM Gene
Publications for SYNM Gene
- 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
- 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
- Human alpha-synemin interacts directly with vinculin and metavinculin. (PMID: 18028034) Sun N … Robson RM (The Biochemical journal 2008) 3 4 23
- 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
- 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
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Products for SYNM Gene
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Sources for SYNM Gene
- (1) GeneCards
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- (3) NCBI Entrez Gene
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