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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SYNM
synemin
Chromosome 15 · 15q26.3
NCBI Gene: 23336Ensembl: ENSG00000182253HGNC: HGNC:24466UniProt: A0A075B7B1
69PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intermediate filamentstructural constituent of cytoskeletoncostamerevinculin bindingneurodegenerative diseaseAlzheimer diseaseParkinson diseasemultiple system atrophy
✦AI Summary

SYNM encodes synemin, a type VI intermediate filament protein that serves critical cytoskeletal functions in muscle cells 1. Synemin copolymerizes with desmin and vimentin intermediate filaments and interacts with cytoskeletal proteins including vinculin, α-actinin, α-dystrobrevin, dystrophin, talin, and zyxin, enabling linkage of intermediate filaments to adherens junctions at costameres, neuromuscular junctions, and myotendinous junctions 1. Functionally, synemin acts as an A-kinase-anchoring protein (AKAP) that anchors protein kinase A and modulates PKA-dependent phosphorylation of cytoskeletal substrates such as desmin 1. In smooth muscle cells, SYNM is transcriptionally regulated by myocardin and myocardin-related transcription factors in an SRF-independent manner 2. Pathologically, mutations in SYNM have been associated with cardiomyopathies and skeletal myopathies 134, with reported variants including missense mutations affecting protein structure 3. In cancer, SYNM promoter methylation occurs in 27% of breast cancers and associates with aggressive phenotypes, reduced expression, and early tumor relapse 5. Additionally, plasma SYNM levels show association with glioblastoma recurrence 6, and SYNM was identified as a potential diagnostic biomarker in prostate cancer and benign prostatic hyperplasia 7.

Sources cited
1
SYNM encodes type VI intermediate filament protein, copolymerizes with desmin and vimentin, interacts with multiple cytoskeletal proteins, functions as AKAP anchoring PKA
PMID: 32023076
2
SYNM is transcriptionally regulated by myocardin family transcription factors in SRF-independent manner in smooth muscle cells
PMID: 31461342
3
SYNM mutations including p.(Trp538Arg) missense variant associated with dilated cardiomyopathy
PMID: 30276801
4
SYNM mutations linked to cardiomyopathy and skeletal muscle disorders
PMID: 33923914
5
SYNM promoter methylation occurs in 27% of breast cancers, associates with aggressive phenotypes and early tumor relapse
PMID: 20543860
6
Plasma SYNM concentrations associated with glioblastoma recurrence
PMID: 37882631
7
SYNM identified as potential novel diagnostic biomarker in prostate cancer and benign prostatic hyperplasia
PMID: 37781794
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.27Weak
Alzheimer diseaseOpen Targets
0.12Weak
Parkinson diseaseOpen Targets
0.12Weak
multiple system atrophyOpen Targets
0.12Weak
Lewy body dementiaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
glioblastoma multiformeOpen Targets
0.10Weak
melanomaOpen Targets
0.10Suggestive
infectionOpen Targets
0.08Suggestive
synucleinopathyOpen Targets
0.08Suggestive
Cognitive impairmentOpen Targets
0.08Suggestive
myeloid sarcomaOpen Targets
0.08Suggestive
tuberous sclerosisOpen Targets
0.08Suggestive
HyperglycemiaOpen Targets
0.08Suggestive
pulmonary arterial hypertensionOpen Targets
0.07Suggestive
fleck corneal dystrophyOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
inherited hemoglobinopathyOpen Targets
0.07Suggestive
hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
glioblastomaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EVPLLShared pathway100%TLN2Protein interaction100%FLNCProtein interaction99%NESProtein interaction95%PLECProtein interaction95%TLN1Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Brain
18%
Lung
9%
Ovary
4%
Liver
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SYNMEVPLLTLN2FLNCNESPLECTLN1
PROTEIN STRUCTURE
Preparing viewer…
PDB6EWO · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.83–1.18]
RankingsWhere SYNM stands among ~20K protein-coding genes
  • #6,856of 20,598
    Most Researched69
  • #12,341of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedSYNM
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Proteometabolomics of initial and recurrent glioblastoma highlights an increased immune cell signature with altered lipid metabolism.
PMID: 37882631
Neuro Oncol · 2024
1.00
2
Cost of ventral hernia repair using biologic or synthetic mesh.
PMID: 27363656
J Surg Res · 2016
0.90
3
Synemin-related skeletal and cardiac myopathies: an overview of pathogenic variants.
PMID: 32023076
Am J Physiol Cell Physiol · 2020
0.80
4
CHRDL1, NEFH, TAGLN and SYNM as novel diagnostic biomarkers of benign prostatic hyperplasia and prostate cancer.
PMID: 37781794
Cancer Biomark · 2023
0.70
5
Identification of the intermediate filament protein synemin/SYNM as a target of myocardin family coactivators.
PMID: 31461342
Am J Physiol Cell Physiol · 2019
0.60