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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SSPN
sarcospan
Chromosome 12 · 12p12.1
NCBI Gene: 8082Ensembl: ENSG00000123096.13HGNC: HGNC:11322UniProt: Q14714
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transport vesiclesarcolemmacamera-type eye developmentGolgi membraneatrial fibrillationdiabetes mellituscardiomyopathyatrial flutter
✦AI Summary

Sarcospan (SSPN) is a component of the dystrophin-glycoprotein complex (DGC), which links the F-actin cytoskeleton to the extracellular matrix in muscle 1. SSPN preferentially associates with the sarcoglycan subcomplex and is expressed in vascular smooth muscle and endothelial cells, where it colocalizes with dystrophin, utrophin, and caveolin 1. Beyond skeletal muscle, SSPN plays critical roles in cardiac function and metabolic homeostasis. Genome-wide association studies identified SSPN as a risk locus for atrial fibrillation, likely through cardiac structural remodeling mechanisms 2, and as a putative effector gene in dilated cardiomyopathy pathogenesis 3. In vivo studies demonstrate that SSPN deficiency protects mice from diet-induced obesity but reveals sex-dependent metabolic consequences: aged SSPN-deficient males develop diastolic dysfunction and increased left ventricular mass, while females develop glucose intolerance 4. These findings suggest SSPN functions in both striated muscle structural integrity and systemic metabolic regulation, with important implications for understanding sex-dependent susceptibility to cardiometabolic diseases.

Sources cited
1
SSPN identified as a gene important for striated muscle function and integrity in atrial fibrillation genome-wide association study
PMID: 30061737
2
SSPN identified as putative effector gene in dilated cardiomyopathy with rare variant associations
PMID: 39572783
3
SSPN is a component of the sarcoglycan-sarcospan complex expressed in vascular smooth muscle and endothelial cells, colocalizing with dystrophin and utrophin
PMID: 15583476
4
SSPN-deficient mice show protection from diet-induced obesity but develop sex-dependent cardiometabolic complications including diastolic dysfunction in aged males and glucose intolerance in females
PMID: 39120469
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.56Moderate
diabetes mellitusOpen Targets
0.44Moderate
cardiomyopathyOpen Targets
0.42Moderate
atrial flutterOpen Targets
0.40Weak
open-angle glaucomaOpen Targets
0.39Weak
hypertensionOpen Targets
0.39Weak
cardiac arrhythmiaOpen Targets
0.36Weak
chronic obstructive pulmonary diseaseOpen Targets
0.36Weak
androgenetic alopeciaOpen Targets
0.35Weak
MenorrhagiaOpen Targets
0.35Weak
hypertrophic cardiomyopathyOpen Targets
0.35Weak
type 2 diabetes mellitusOpen Targets
0.35Weak
health study participationOpen Targets
0.34Weak
ankylosing spondylitisOpen Targets
0.33Weak
endometrial cancerOpen Targets
0.32Weak
kidney cancerOpen Targets
0.30Weak
alcohol drinkingOpen Targets
0.25Weak
OligomenorrheaOpen Targets
0.25Weak
PolymenorrheaOpen Targets
0.25Weak
renal cell carcinomaOpen Targets
0.24Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNTG2Protein interaction97%CAV3Protein interaction96%DAG1Protein interaction96%DMDProtein interaction96%DTNAProtein interaction96%PGM5Protein interaction96%
Tissue Expression6 tissues
Heart
100%
Ovary
27%
Brain
24%
Lung
8%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SSPNSNTG2CAV3DAG1DMDDTNAPGM5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q14714
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.56LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.01 [0.66–1.56]
RankingsWhere SSPN stands among ~20K protein-coding genes
  • #10,699of 20,598
    Most Researched37
  • #15,498of 17,882
    Most Constrained (LOEUF)1.56
Genes detectedSSPN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
PMID: 30061737
Nat Genet · 2018
1.00
2
Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy.
PMID: 39572783
Nat Genet · 2024
0.90
3
Epigenetic training of human bronchial epithelium cells by repeated rhinovirus infections.
PMID: 39513674
Allergy · 2024
0.80
4
Expression analysis of the SG-SSPN complex in smooth muscle and endothelial cells of human umbilical cord vessels.
PMID: 15583476
J Vasc Res · 2005
0.70
5
Radiographic screening for cancer. Proposed paradigm for requisite research.
PMID: 8180854
Clin Imaging · 1994
0.60