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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TSPAN6
tetraspanin 6
Chromosome X · Xq22.1
NCBI Gene: 7105Ensembl: ENSG00000000003.16HGNC: HGNC:11858UniProt: A0A087WYV6
38PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of canonical NF-kappaB signal transductionnegative regulation of cytoplasmic pattern recognition receptor signaling pathwaypositive regulation of canonical NF-kappaB signal transductionprotein bindinghypertensiongoutneoplasmglioma
✦AI Summary

TSPAN6 (tetraspanin 6) is a transmembrane scaffold protein that functions as a tumor suppressor and regulator of cellular signaling. As a member of the tetraspanin family, TSPAN6 localizes to plasma membranes and extracellular vesicles 1, where it regulates protein trafficking and membrane compartmentalization. TSPAN6 suppresses RAS-driven tumorigenesis by binding EGFR and blocking EGFR-induced RAS activation, with loss of TSPAN6 promoting epithelial-to-mesenchymal transition 2. In colorectal cancer, TSPAN6 deletion increases adenoma formation through enhanced EGF signaling via syntenin-1-mediated TGF-α trafficking 3. Conversely, TSPAN6 is upregulated in gliomas, correlating with poor prognosis and enhanced macrophage infiltration 4. TSPAN6 regulates exosome biogenesis through interaction with syntenin-1, increasing multivesicular body and intraluminal vesicle formation; TSPAN6-enriched exosomes from adipose-derived stem cells enhance wound healing 5. In the central nervous system, TSPAN6 modulates hippocampal synaptic transmission and long-term potentiation 6. Clinical significance includes TSPAN6 as a predictive marker for EGFR-targeted therapy response in colorectal cancer 3 and prognostic indicator in gliomas and pancreatic cancer 7. TSPAN6 deletions have been identified in rare genetic diseases including epilepsy and intellectual disability 8.

Sources cited
1
TSPAN6 localizes to extracellular vesicles and may regulate oxysterol and cholesterol composition in EVs
PMID: 40135387
2
TSPAN6 suppresses RAS-driven cancer by binding EGFR, blocking RAS activation, and maintaining epithelial cell identity; low TSPAN6 correlates with poor prognosis in lung and pancreatic cancers
PMID: 35184157
3
TSPAN6 deletion in ApcMin/+ mice increases adenoma formation through increased EGF signaling; TSPAN6 loss is common in CRC and associates with poor survival; TSPAN6 expression predicts response to EGFR-targeted therapy (Cetuximab)
PMID: 34521767
4
TSPAN6 is upregulated in gliomas, correlates with unfavorable clinical features, reduced overall survival, and enhanced macrophage infiltration; knockdown inhibits cell proliferation and migration
PMID: 39472973
5
TSPAN6 regulates exosome secretion through syntenin-1 interaction, increasing multivesicular body and intraluminal vesicle formation; TSPAN6-enriched exosomes enhance wound healing and cell proliferation
PMID: 39548518
6
TSPAN6 regulates hippocampal synaptic transmission and long-term potentiation; deletions associated with epilepsy and intellectual disability
PMID: 28207852
7
TSPAN6 identified as a candidate gene linked to human genetic diseases in a clinical exome sequencing cohort
PMID: 28600779
8
TSPAN6 included in a prognostic model for pancreatic cancer risk stratification
PMID: 41050689
Disease Associationsⓘ20
hypertensionOpen Targets
0.43Moderate
goutOpen Targets
0.34Weak
neoplasmOpen Targets
0.09Suggestive
gliomaOpen Targets
0.08Suggestive
glioblastomaOpen Targets
0.08Suggestive
7q11.23 microduplication syndromeOpen Targets
0.07Suggestive
Monoamine oxidase A deficiencyOpen Targets
0.07Suggestive
schizophrenia 19Open Targets
0.07Suggestive
Malignant Pancreatic NeoplasmOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.03Suggestive
ependymomaOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
astrocytomaOpen Targets
0.02Suggestive
Neoplasm of the lungOpen Targets
0.01Suggestive
dysplasiaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SDCBPProtein interaction74%C18orf32Shared pathway33%LURAP1LShared pathway33%TMEM101Shared pathway33%CARD19Shared pathway33%TMEM9BShared pathway33%
Tissue Expression6 tissues
Ovary
100%
Liver
96%
Heart
15%
Lung
11%
Brain
10%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
TSPAN6SDCBPC18orf32LURAP1LTMEM101CARD19TMEM9B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O43657
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.47–1.15]
RankingsWhere TSPAN6 stands among ~20K protein-coding genes
  • #10,565of 20,598
    Most Researched38
  • #11,976of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedTSPAN6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
Tetraspanin 6 is a regulator of carcinogenesis in colorectal cancer.
PMID: 34521767
Proc Natl Acad Sci U S A · 2021
0.90
3
Single-cell and multi-omics analysis identifies TRIM9 as a key ubiquitination regulator in pancreatic cancer.
PMID: 41050689
Front Immunol · 2025
0.80
4
Tetraspanins affect membrane structures and the trafficking of molecular partners: what impact on extracellular vesicles?
PMID: 40135387
Biochem Soc Trans · 2025
0.70
5
TSPAN6 is a suppressor of Ras-driven cancer.
PMID: 35184157
Oncogene · 2022
0.60