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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SYNE2
spectrin repeat containing nuclear envelope protein 2
Chromosome 14 Β· 14q23.2
NCBI Gene: 23224Ensembl: ENSG00000054654.20HGNC: HGNC:17084UniProt: Q8WXH0
145PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intermediate filament cytoskeletonnuclear lumenfocal adhesionfilopodium membraneEmery-Dreifuss muscular dystrophyneurodegenerative diseaseatrial fibrillationcutaneous melanoma
✦AI Summary

SYNE2 encodes nesprin-2, a multi-isomeric scaffolding protein that serves as a critical component of the LINC (Linker of Nucleoskeleton and Cytoskeleton) complex at the nuclear envelope 1. The protein maintains subcellular spatial organization by forming linking networks between organelles and the actin cytoskeleton 1. In cardiac muscle, specific SYNE2 isoforms localize to the Z-disc and I-band of the sarcomere, where they function as scaffold proteins interacting with telethonin and FHL-2, potentially regulating sarcomeric organization 2. Beyond nuclear envelope functions, SYNE2 plays crucial roles in nuclear positioning and migration through its association with motor protein complexes 1. Mutations in SYNE2 are associated with Emery-Dreifuss muscular dystrophy type 5 (EDMD5), characterized by progressive muscle weakness, contractures, and cardiac conduction defects 34. EDMD-associated SYNE2 mutations impair protein interactions with telethonin and FHL-2, suggesting disrupted sarcomeric function contributes to cardiomyopathy 2. Additionally, SYNE2 variants have been associated with hepatocellular carcinoma outcomes and p21 expression regulation 5. The protein's diverse subcellular localizations and molecular interactions underscore its importance in maintaining cellular architecture and its involvement in multiple disease pathways 1.

Sources cited
1
SYNE2 encodes nesprin-2, a LINC complex component that links nuclear interior with cytoskeleton and is implicated in various diseases
PMID: 24374011
2
SYNE2 isoforms localize to cardiac sarcomere Z-disc and I-band, interact with telethonin and FHL-2, with mutations impairing these interactions
PMID: 38569934
3
SYNE2 mutations cause Emery-Dreifuss muscular dystrophy with muscle weakness, contractures, and cardiac complications
PMID: 31840275
4
SYNE2 is implicated in EDMD and its importance for cardiac and muscle function is supported by animal modeling
PMID: 21496632
5
SYNE2 variants are associated with p21 expression regulation and clinical outcomes in hepatocellular carcinoma
PMID: 27502069
Disease Associationsβ“˜21
Emery-Dreifuss muscular dystrophyOpen Targets
0.65Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
atrial fibrillationOpen Targets
0.38Weak
cutaneous melanomaOpen Targets
0.38Weak
hair colorOpen Targets
0.37Weak
skin agingOpen Targets
0.37Weak
prostate carcinomaOpen Targets
0.35Weak
cerebral palsyOpen Targets
0.34Weak
psoriasisOpen Targets
0.33Weak
gestational diabetesOpen Targets
0.30Weak
Alzheimer diseaseOpen Targets
0.30Weak
atrial flutterOpen Targets
0.28Weak
cardiac arrhythmiaOpen Targets
0.27Weak
ThyrotoxicosisOpen Targets
0.27Weak
spastic ataxiaOpen Targets
0.27Weak
lysosomal storage diseaseOpen Targets
0.26Weak
multiple sclerosisOpen Targets
0.26Weak
Parkinson diseaseOpen Targets
0.26Weak
paralytic strabismusOpen Targets
0.26Weak
diabetic ketoacidosisOpen Targets
0.26Weak
Emery-Dreifuss muscular dystrophy 5, autosomal dominantUniProt
Pathogenic Variants10
NM_182914.3(SYNE2):c.6790dup (p.Thr2264fs)Likely pathogenic
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
β˜…β˜†β˜†β˜†2025β†’ Residue 2264
NM_182914.3(SYNE2):c.4085dup (p.Asn1362fs)Likely pathogenic
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
β˜…β˜†β˜†β˜†2025β†’ Residue 1362
NM_182914.3(SYNE2):c.9285del (p.Lys3095fs)Likely pathogenic
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
β˜…β˜†β˜†β˜†2025β†’ Residue 3095
NM_182914.3(SYNE2):c.15533_15537del (p.Lys5178fs)Likely pathogenic
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
β˜…β˜†β˜†β˜†2023β†’ Residue 5178
NM_182914.3(SYNE2):c.990_990+4delLikely pathogenic
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
β˜…β˜†β˜†β˜†2023
NM_182914.3(SYNE2):c.16153C>T (p.Gln5385Ter)Pathogenic
Cerebral palsy
β˜…β˜†β˜†β˜†2021β†’ Residue 5385
NM_182914.3(SYNE2):c.2970C>A (p.Tyr990Ter)Pathogenic
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
β˜…β˜†β˜†β˜†2021β†’ Residue 990
NM_182914.3(SYNE2):c.4397G>A (p.Arg1466Gln)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 1466
NM_182914.3(SYNE2):c.4462C>T (p.Gln1488Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†β†’ Residue 1488
NM_182914.3(SYNE2):c.14503dup (p.Ser4835fs)Likely pathogenic
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
β˜†β˜†β˜†β˜†2021β†’ Residue 4835
View on ClinVar β†—
Related Genes
FHOD1Protein interaction99%SUN1Protein interaction98%EMDProtein interaction96%LMNAProtein interaction96%LMNB1Protein interaction96%TMEM67Protein interaction93%
Tissue Expression6 tissues
Ovary
100%
Heart
72%
Lung
49%
Brain
48%
Liver
38%
Bone Marrow
30%
Gene Interaction Network
Click a node to explore
SYNE2FHOD1SUN1EMDLMNALMNB1TMEM67
PROTEIN STRUCTURE
Preparing viewer…
PDB4DXS Β· 2.71 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.52Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.47 [0.43–0.52]
RankingsWhere SYNE2 stands among ~20K protein-coding genes
  • #3,150of 20,598
    Most Researched145 Β· top quartile
  • #2,837of 5,498
    Most Pathogenic Variants10
  • #3,166of 17,882
    Most Constrained (LOEUF)0.52 Β· top quartile
Genes detectedSYNE2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Emery-Dreifuss muscular dystrophy.
PMID: 31840275
Muscle Nerve Β· 2020
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
Emery-Dreifuss muscular dystrophy.
PMID: 21496632
Handb Clin Neurol Β· 2011
0.80
4
Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.
PMID: 25854761
Nat Commun Β· 2015
0.70
5
EGFR and SYNE2 are associated with p21 expression and SYNE2 variants predict post-operative clinical outcomes in HBV-related hepatocellular carcinoma.
PMID: 27502069
Sci Rep Β· 2016
0.60