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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SYNPO2L
synaptopodin 2 like
Chromosome 10 · 10q22.2
NCBI Gene: 79933Ensembl: ENSG00000166317.12HGNC: HGNC:23532UniProt: Q9H987
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingheart morphogenesispositive regulation of actin filament bundle assemblypositive regulation of Rho protein signal transductionatrial fibrillationheart failurehypertrophic cardiomyopathyatrial flutter
✦AI Summary

SYNPO2L is an actin-associated protein localized to the sarcomere that plays multifaceted roles in cardiac and cancer biology. Functionally, SYNPO2L modulates actin-based cytoskeletal organization and promotes stress fiber assembly through positive regulation of Rho signaling and actin filament bundling 1. In cardiac development and function, SYNPO2L variants are implicated in heart failure pathogenesis, with functional analysis of non-CAD-associated heart failure loci identifying SYNPO2L as a gene involved in cardiac development 2. SYNPO2L is also a major atrial fibrillation (AF) susceptibility gene at the chromosome 10 locus 1. Multiple transcript isoforms exist, including two that encode long noncoding RNAs and two that encode sarcomeric proteins; risk alleles are associated with decreased cardiac development genes and increased SYNPO2L lncRNA expression 1. Common missense variants in SYNPO2L associate with both AF and blood pressure regulation 3, 4. Beyond cardiac function, SYNPO2L exhibits oncogenic properties in colorectal cancer, where its mRNA stability is regulated by the m6A methyltransferase METTL16, and it promotes cancer cell metastasis by regulating COL10A1 secretion and facilitating epithelial-mesenchymal transition 5. Clinically, SYNPO2L represents a shared genetic locus between atrial fibrillation and heart failure pathogenesis 6.

Sources cited
1
SYNPO2L identified as a gene involved in cardiac development in heart failure GWAS meta-analysis
PMID: 31919418
2
SYNPO2L mRNA stability regulated by METTL16 methyltransferase; promotes cancer metastasis via COL10A1 secretion and EMT
PMID: 39247832
3
Synpo2l expression not severely impaired in Pitx2 loss-of-function atrial fibrillation models
PMID: 26243430
4
SYNPO2L localizes to sarcomere; multiple transcript isoforms including lncRNAs; risk alleles associated with altered SYNPO2L expression and AF susceptibility at 10q22
PMID: 39408638
5
SYNPO2L missense variant rs3812629 (Pro707Leu) associated with atrial fibrillation susceptibility
PMID: 27589061
6
SYNPO2L missense variant rs3416322 associated with blood pressure regulation
PMID: 29030403
7
SYNPO2L identified as one of seven genes implicated in both atrial fibrillation and heart failure
PMID: 37270590
8
SYNPO2L is an atrial fibrillation locus associated with P-wave duration and atrial conduction
PMID: 32822252
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.46Moderate
heart failureOpen Targets
0.26Weak
hypertrophic cardiomyopathyOpen Targets
0.23Weak
atrial flutterOpen Targets
0.20Weak
congestive heart failureOpen Targets
0.18Weak
cardiac arrhythmiaOpen Targets
0.18Weak
chronic obstructive pulmonary diseaseOpen Targets
0.16Weak
cardioembolic strokeOpen Targets
0.16Weak
nonischemic cardiomyopathyOpen Targets
0.15Weak
abnormal chest soundsOpen Targets
0.15Weak
Alzheimer diseaseOpen Targets
0.13Weak
heart diseaseOpen Targets
0.12Weak
neoplasmOpen Targets
0.08Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
systolic heart failureOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.01Suggestive
cardiac hypertrophyOpen Targets
0.01Suggestive
cardiomyopathyOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYOZ1Protein interaction72%FHOD3Shared pathway29%ARHGEF15Shared pathway25%MYBPC3Shared pathway22%SYNPO2Shared pathway20%MYOM3Shared pathway20%
Tissue Expression6 tissues
Heart
100%
Lung
0%
Brain
0%
Ovary
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SYNPO2LMYOZ1FHOD3ARHGEF15MYBPC3SYNPO2MYOM3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9H987
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.56–0.97]
RankingsWhere SYNPO2L stands among ~20K protein-coding genes
  • #14,826of 20,598
    Most Researched18
  • #9,172of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedSYNPO2L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure.
PMID: 31919418
Nat Commun · 2020
1.00
2
METTL16 Promotes Stability of SYNPO2L mRNA and leading to Cancer Cell Lung Metastasis by Secretion of COL10A1 and attract the Cancer-Associated Fibroblasts.
PMID: 39247832
Int J Biol Sci · 2024
0.90
3
Pitx2 impairs calcium handling in a dose-dependent manner by modulating Wnt signalling.
PMID: 26243430
Cardiovasc Res · 2016
0.80
4
Transcriptomic Insights into the Atrial Fibrillation Susceptibility Locus near the
PMID: 39408638
Int J Mol Sci · 2024
0.70
5
Whole Exome Sequencing in Atrial Fibrillation.
PMID: 27589061
PLoS Genet · 2016
0.60