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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SYNE3
spectrin repeat containing nuclear envelope family member 3
Chromosome 14 · 14q32.13
NCBI Gene: 161176Ensembl: ENSG00000176438.14HGNC: HGNC:19861UniProt: Q6ZMZ3
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
meiotic nuclear membrane microtubule tethering complexmembranenuclear membranecytoskeleton organizationatrial fibrillationopen-angle glaucomahair morphologylymphatic system cancer
✦AI Summary

SYNE3 (spectrin repeat containing nuclear envelope family member 3) encodes nesprin-3, a critical component of the LINC (Linker of Nucleoskeleton and Cytoskeleton) complex that bridges the nuclear envelope and cytoskeleton. 1 The protein functions as a cytoskeleton-nuclear membrane anchor, binding to plectin (PLEC) to tether the nucleus to intermediate filaments and actin filaments, thereby transmitting mechanical forces across the nuclear envelope and regulating nuclear positioning and movement. 2 SYNE3 expression is transcriptionally regulated by the p63 factor and is essential for maintaining proper nuclear architecture and chr14 organization in keratinocytes. 2 In disease contexts, SYNE3 alterations are associated with multiple cancer types. Copy number alterations of SYNE3 as part of a laminin-binding integrin signature correlate with survival outcomes in bladder urothelial carcinoma and cervical cancers. 3 SYNE3 functions as a tumor suppressor, with its expression exhibiting prognostic value across multiple malignancies, possibly through stabilizing nuclear structure, promoting apoptosis, and modulating the tumor microenvironment. 4 Additionally, genome-wide association studies identified SYNE3 as a sex-specific locus associated with carotid intima-media thickness, a marker of subclinical atherosclerosis. 5 At the molecular level, SYNE3 interacts with SUN5 and outer dense fiber proteins to maintain sperm head-tail junction integrity. 6

Sources cited
1
SYNE3 (nesprin-3) is a key component of the LINC complex that spans the nuclear envelope and integrates nuclear interior with cytoskeleton
PMID: 24374011
2
SYNE3 is a p63 target gene whose expression is critical for nuclear architecture maintenance in keratinocytes and regulates nuclear shape
PMID: 28595999
3
SYNE3 copy number alterations correlate with survival in bladder urothelial carcinoma and cervical cancers as part of laminin-binding integrin signature
PMID: 27158381
4
SYNE3 has tumor-suppressing functions by stabilizing nucleus, promoting apoptosis, and altering tumor microenvironment with prognostic value across cancers
PMID: 32948197
5
SYNE3 is identified as a sex-specific locus associated with carotid intima-media thickness, a marker of atherosclerosis
PMID: 34852643
6
SYNE3 (nesprin-3) interacts with SUN5 and ODF1 to maintain sperm head-tail junction integrity
PMID: 33848337
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.52Moderate
open-angle glaucomaOpen Targets
0.44Moderate
hair morphologyOpen Targets
0.33Weak
lymphatic system cancerOpen Targets
0.33Weak
non-Hodgkins lymphomaOpen Targets
0.33Weak
benign soft tissue neoplasmOpen Targets
0.26Weak
subarachnoid hemorrhageOpen Targets
0.25Weak
cancerOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
chondrocalcinosisOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
glycogen storage disease IIIOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
urinary bladder carcinomaOpen Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.04Suggestive
MODYOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
Fish-eye diseaseOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLECProtein interaction94%SPAG4Protein interaction94%SUN1Protein interaction94%SUN2Protein interaction94%SYNE2Protein interaction91%SYNE1Protein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
60%
Heart
50%
Ovary
44%
Liver
30%
Brain
22%
Gene Interaction Network
Click a node to explore
SYNE3PLECSPAG4SUN1SUN2SYNE2SYNE1
PROTEIN STRUCTURE
Preparing viewer…
PDB6WME · 1.53 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.81–1.13]
RankingsWhere SYNE3 stands among ~20K protein-coding genes
  • #9,799of 20,598
    Most Researched43
  • #11,689of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedSYNE3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Laminin-binding integrin gene copy number alterations in distinct epithelial-type cancers.
PMID: 27158381
Am J Transl Res · 2016
1.00
2
Nesprins in health and disease.
PMID: 24374011
Semin Cell Dev Biol · 2014
0.90
3
p63 Transcription Factor Regulates Nuclear Shape and Expression of Nuclear Envelope-Associated Genes in Epidermal Keratinocytes.
PMID: 28595999
J Invest Dermatol · 2017
0.80
4
Twenty-Five Novel Loci for Carotid Intima-Media Thickness: A Genome-Wide Association Study in >45 000 Individuals and Meta-Analysis of >100 000 Individuals.
PMID: 34852643
Arterioscler Thromb Vasc Biol · 2022
0.70
5
Genome-wide RNAi Screening Identifies RFC4 as a Factor That Mediates Radioresistance in Colorectal Cancer by Facilitating Nonhomologous End Joining Repair.
PMID: 30979744
Clin Cancer Res · 2019
0.60