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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TSPAN7
tetraspanin 7
Chromosome X Β· Xp11.4
NCBI Gene: 7102Ensembl: ENSG00000156298.14HGNC: HGNC:11854UniProt: P41732
54PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingplasma membranemembraneintellectual disability, X-linked 58X-linked non-syndromic intellectual disabilitynon-syndromic X-linked intellectual disabilityCOVID-19
✦AI Summary

TSPAN7 (tetraspanin 7) is a four-span transmembrane protein that functions as a plasma membrane organizer, forming tetraspanin-enriched microdomains (TEMs) through lateral association with other membrane proteins 1. In tissue regeneration, TSPAN7 serves as a limbal stem cell marker with functional roles in cell growth and tissue regeneration of corneal epithelium 2. TSPAN7 regulates lipid droplet formation and adipose tissue remodeling, influencing body weight and metabolic health through modulation of fat distribution and insulin sensitivity 3. The protein acts as a positive regulator of actin nucleation via the ARP2/3 complex, facilitating dendritic cell-mediated HIV-1 transfer to T lymphocytes 4, with expression dynamically regulated during dendritic cell maturation 5. In neurological disease, TSPAN7 mutations impair synaptic integrity through disruption of the integrin Ξ²1/FAK/SRC signaling pathway, leading to autism spectrum disorder and intellectual disability phenotypes 6. In glioma, reduced TSPAN7 expression correlates with poor prognosis, increased tumor-associated macrophage infiltration, and reduced immunotherapy response, suggesting TSPAN7 as a biomarker for predicting glioma immunotherapy efficacy 7. TSPAN7 participates in viral infection by organizing cofactors into distinct molecular platforms 1, positioning it as a multifunctional regulator relevant to metabolic, neurological, and neoplastic disease contexts.

Sources cited
1
TSPAN7 identified as limbal stem cell marker with functional roles in cell growth and tissue regeneration
PMID: 33388438
2
TSPAN7 regulates lipid droplet formation, adipose tissue remodeling, and metabolic health through fat distribution control
PMID: 40368161
3
Tetraspanins including TSPAN7 form enriched microdomains and organize cofactors for viral infection
PMID: 29887866
4
TSPAN7 expression decreased in high-grade gliomas correlates with poor prognosis and reduced immunotherapy response
PMID: 36845098
5
TSPAN7 is positive regulator of actin nucleation via ARP2/3 complex in dendritic cell-mediated HIV-1 transfer
PMID: 28620031
6
TSPAN7 deletion impairs synaptic integrity through integrin Ξ²1/FAK/SRC pathway disruption, causing autism and intellectual disability
PMID: 36625203
7
TSPAN7 expression is downregulated during dendritic cell maturation in response to innate immune stimuli
PMID: 32181159
Disease Associationsβ“˜21
intellectual disability, X-linked 58Open Targets
0.72Strong
X-linked non-syndromic intellectual disabilityOpen Targets
0.67Moderate
non-syndromic X-linked intellectual disabilityOpen Targets
0.42Moderate
COVID-19Open Targets
0.30Weak
severe acute respiratory syndromeOpen Targets
0.30Weak
Intellectual disabilityOpen Targets
0.14Weak
attention deficit hyperactivity disorderOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Weak
hereditary attention deficit-hyperactivity disorderOpen Targets
0.09Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.09Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.09Suggestive
schizophrenia 15Open Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
movement disorderOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
autismOpen Targets
0.07Suggestive
Phelan-McDermid syndromeOpen Targets
0.07Suggestive
Intellectual developmental disorder, X-linked 58UniProt
Pathogenic Variants5
NM_004615.4(TSPAN7):c.492C>A (p.Tyr164Ter)Pathogenic
Intellectual disability, X-linked 58
β˜…β˜†β˜†β˜†2026β†’ Residue 164
NM_004615.4(TSPAN7):c.271-1G>TLikely pathogenic
Intellectual disability, X-linked 58|Lung cancer|Thyroid cancer, nonmedullary, 1
β˜…β˜†β˜†β˜†
NM_004615.4(TSPAN7):c.289del (p.Leu97fs)Pathogenic
Intellectual disability, X-linked 58
β˜†β˜†β˜†β˜†2021β†’ Residue 97
NM_004615.4(TSPAN7):c.572_573del (p.Val191fs)Pathogenic
Intellectual disability, X-linked 58
β˜†β˜†β˜†β˜†2002β†’ Residue 191
NM_004615.4(TSPAN7):c.652G>T (p.Gly218Ter)Pathogenic
Intellectual disability, X-linked 58
β˜†β˜†β˜†β˜†2000β†’ Residue 218
View on ClinVar β†—
Related Genes
PICK1Protein interaction97%
Tissue Expression6 tissues
Brain
100%
Heart
16%
Lung
10%
Ovary
5%
Liver
4%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
TSPAN7PICK1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P41732
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.27Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.06 [0.02–0.27]
RankingsWhere TSPAN7 stands among ~20K protein-coding genes
  • #8,383of 20,598
    Most Researched54
  • #3,576of 5,498
    Most Pathogenic Variants5
  • #905of 17,882
    Most Constrained (LOEUF)0.27 Β· top 10%
Genes detectedTSPAN7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Single-cell transcriptomics identifies limbal stem cell population and cell types mapping its differentiation trajectory in limbal basal epithelium of human cornea.
PMID: 33388438
Ocul Surf Β· 2021
1.00
2
Tetraspanin7 in adipose tissue remodeling and its impact on metabolic health.
PMID: 40368161
Mol Metab Β· 2025
0.90
3
Tetraspanin Assemblies in Virus Infection.
PMID: 29887866
Front Immunol Β· 2018
0.80
4
Functional characterization of TSPAN7 as a novel indicator for immunotherapy in glioma.
PMID: 36845098
Front Immunol Β· 2023
0.70
5
TSPAN7, effector of actin nucleation required for dendritic cell-mediated transfer of HIV-1 to T cells.
PMID: 28620031
Biochem Soc Trans Β· 2017
0.60