SYNM Gene

HGNC Family	Intermediate filaments, A-kinase anchor proteins (AKAP)
Name	synemin, intermediate filament protein
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSynemin is a unique, very large intermediate filament protein that plays a central role in maintaining the structural integrity of muscle cells. In striated muscle, it forms heteropolymeric filaments with proteins such as desmin and vimentin while directly interacting with key components including dystrophin, utrophin, talin, vinculin, and titin. These interactions function to link the myofibrils with the costameric and sarcolemmal regions, thereby bolstering force transmission and mechanical stability in both skeletal and cardiac muscle. Aberrant localization or expression of synemin is associated with a range of myopathies and muscular dystrophies, underscoring its critical structural function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its anchoring role in muscle, synemin has been implicated in the regulation of cell adhesion, migration, and proliferation in several cancer and neural contexts. In glioblastoma and reactive astrocytes, for example, synemin modulates cell cycle progression and migration via pathways involving Akt—often by sequestering PP2A away from Akt—and by interacting with focal adhesion proteins such as zyxin. Similar alterations in synemin expression have been observed in breast cancer and hepatocellular carcinoma, where dysregulation may contribute to tumor progression, altered adhesion dynamics, and even radioresistance in head and neck cancers."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "18"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nSynemin’s influence is not restricted to differentiated muscle or cancer cells; it also contributes to developmental and vascular processes. During retinal and lens development, synemin appears to serve as a crucial cross‐linker among diverse cytoskeletal networks. Moreover, altered synemin expression or mutation has been linked to vascular abnormalities—including varicose vein formation, primary vein incompetence, and congenital heart disease–associated pulmonary arterial hypertension—as well as to dilated cardiomyopathy. In addition, system‐wide molecular profiling in conditions such as atherosclerosis has identified suppressed synemin-related signatures, suggesting that synemin may participate in regulating vascular smooth muscle cell phenotypes and overall vascular integrity."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "19", "end_ref": "25"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Montse Olivé, Lev Goldfarb, Ayush Dagvadorj, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Neuropathol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00401-003-0695-0"}], "href": "https://doi.org/10.1007/s00401-003-0695-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12669240"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12669240"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yuji Mizuno, Jeffrey R Guyon, Simon C Watkins, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Beta-synemin localizes to regions of high stress in human skeletal myofibers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Muscle Nerve (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mus.20111"}], "href": "https://doi.org/10.1002/mus.20111"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15318345"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15318345"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Rahul C Bhosle, Daniel E Michele, Kevin P Campbell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Interactions of intermediate filament protein synemin with dystrophin and utrophin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2006.05.192"}], "href": "https://doi.org/10.1016/j.bbrc.2006.05.192"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16777071"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16777071"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ning Sun, David R Critchley, Denise Paulin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human alpha-synemin interacts directly with vinculin and metavinculin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20071188"}], "href": "https://doi.org/10.1042/BJ20071188"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18028034"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18028034"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ning Sun, David R Critchley, Denise Paulin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a repeated domain within mammalian alpha-synemin that interacts directly with talin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Cell Res (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.yexcr.2008.01.034"}], "href": "https://doi.org/10.1016/j.yexcr.2008.01.034"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18342854"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18342854"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yoshihiro Wakayama, Yoko Matsuzaki, Sumimasa Yamashita, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dysbindin, syncoilin, and beta-synemin mRNA levels in dystrophic muscles."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Neurosci (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3109/00207450903279717"}], "href": "https://doi.org/10.3109/00207450903279717"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20199207"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20199207"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Bethany C Prudner, Pritam Sinha Roy, Derek S Damron, et al. "}, {"type": "b", "children": [{"type": "t", "text": "α-Synemin localizes to the M-band of the sarcomere through interaction with the M10 region of titin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.febslet.2014.11.001"}], "href": "https://doi.org/10.1016/j.febslet.2014.11.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25447537"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25447537"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Karl Swärd, Katarzyna K Krawczyk, Björn Morén, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Altered synemin could affect the organization of intermediate filament in human hepatocellular carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med (2004)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18084875"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18084875"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Ning Sun, Ted W Huiatt, Denise Paulin, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Intermediate filament dynamics and breast cancer: aberrant promoter methylation of the Synemin gene is associated with early tumor relapse."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/onc.2010.229"}], "href": "https://doi.org/10.1038/onc.2010.229"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20543860"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20543860"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Yi-Hsiang Liu, Chiung-Chi Cheng, Yih-Shyong Lai, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "[Default of KIAA0353 gene in varicose great saphenous vein accompanying primary deep vein valve insufficiency]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yi Xue Za Zhi (2003)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12887813"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12887813"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Marcel Tawk, Matthias Titeux, Catherine Fallet, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinese family with dilated cardiomyopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Hum Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/ahg.12287"}], "href": "https://doi.org/10.1111/ahg.12287"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30276801"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30276801"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Jingjing Zhou "}, {"type": "b", "children": [{"type": "t", "text": "Synemin promotes pulmonary artery smooth muscle cell phenotypic switch in shunt-induced pulmonary arterial hypertension."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "ESC Heart Fail (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ehf2.14048"}], "href": "https://doi.org/10.1002/ehf2.14048"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35769011"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35769011"}]}]}]}
Synonyms	DMN
Proteins	SYNEM_HUMAN
NCBI Gene ID	23336
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SYNM has 8,204 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 112 datasets.

Click the + buttons to view associations for SYNM from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SYNM Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SYNM gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of SYNM gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of SYNM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of SYNM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SYNM gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of SYNM gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SYNM gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SYNM gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of SYNM gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SYNM gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of SYNM gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with SYNM protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with SYNM gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SYNM gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SYNM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of SYNM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of SYNM gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SYNM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SYNM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SYNM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with SYNM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of SYNM gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SYNM gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with SYNM gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with SYNM gene/protein from the curated CTD Gene-Disease Associations dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with SYNM gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with SYNM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with SYNM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with SYNM gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SYNM gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at SYNM gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SYNM gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of SYNM gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing SYNM from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of SYNM gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with SYNM gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing SYNM from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of SYNM gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of SYNM gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
	GEO Signatures of Differentially Expressed Genes for Kinase Perturbations	kinase perturbations changing expression of SYNM gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.