TSPAN8

Tetraspanin-8: A transmembrane protein involved in cell motility, tumor progression, and exosome biology

Gene Information Card

Symbol TSPAN8
Full Name Tetraspanin 8
Gene Type Protein coding
Chromosomal Location 12q21.1
NCBI Gene ID 7103 ncbi.nlm.nih.gov/gene/7103
Ensembl ID ENSG00000127324
UniProt ID P19075
OMIM ID 600769
HGNC ID 11842
Aliases CO-029, TM4SF3, TSPAN-8

Description

TSPAN8 encodes tetraspanin-8, a member of the tetraspanin family of transmembrane proteins. Tetraspanins organize membrane microdomains and regulate cell adhesion, migration, and signal transduction. TSPAN8 is overexpressed in various cancers and is implicated in tumor progression, metastasis, and exosome-mediated intercellular communication.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Pancreatic cancer Overexpression promotes invasion and metastasis via integrin signaling and exosome transfer PMID: 25986610; COSMIC
Colorectal cancer Upregulation correlates with poor prognosis and enhanced cell motility PMID: 24986688; COSMIC
Hepatocellular carcinoma TSPAN8 expression associated with tumor aggressiveness and EMT PMID: 27121311; COSMIC
Breast cancer High expression linked to metastasis and exosome-mediated angiogenesis PMID: 24986688; COSMIC
Esophageal squamous cell carcinoma Amplification and overexpression contribute to tumor progression PMID: 19137010; COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 Medium
Pancreas 8.3 Low
Colon 6.7 Low
Breast 4.2 Low
Esophagus 3.9 Low
Lung 2.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
PANC-1 (pancreatic cancer) 15.2 High expression
HCT116 (colorectal cancer) 10.8 Moderate expression
HepG2 (hepatocellular carcinoma) 9.5 Moderate expression
MCF7 (breast cancer) 3.1 Low expression
A549 (lung cancer) 1.8 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.365A>G (p.Asn122Ser) Missense <0.1% (COSMIC) Unknown functional impact
c.487C>T (p.Arg163Trp) Missense <0.1% (COSMIC) Unknown functional impact
Amplification (12q21.1) Copy number gain ~5% in esophageal SCC (COSMIC) Potential gain of function
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in TSPAN8.

Gain of Function (GOF)

Gene amplification and overexpression observed in multiple cancers suggest a gain-of-function role in tumor progression.

Dominant Negative (DN)

No dominant-negative mutations described for TSPAN8.

Gene Ontology (GO)

• plasma membrane (GO:0005886) • integral component of plasma membrane (GO:0005887)
• cell adhesion (GO:0007155) • integral component of membrane (GO:0016021)
• cell junction (GO:0030054) • receptor complex (GO:0043235)
• extracellular exosome (GO:0070062)

Pathways

• Tetraspanin-enriched microdomains (TEMs)
• Integrin signaling pathway
• Exosome biogenesis and secretion
• Cell adhesion and migration

Protein Summary

Tetraspanin-8 is a 4-transmembrane domain protein (237 amino acids) localized to the plasma membrane and exosomes. It forms complexes with integrins and other tetraspanins, modulating cell adhesion, migration, and signal transduction. Overexpression in cancers enhances tumor cell motility, invasion, and metastasis. TSPAN8 is also a component of exosomes, facilitating intercellular transfer of oncogenic signals.

Related Products

Product name Cat.No. Species Gene ID
TSPAN8 Knockout HEK293 Cell Line EDJ-KQ3919 Human 7103 Details Get a Quote
TSPAN8 Knockout HCT 116 Cell Line EDJ-KQ26146 Human 7103 Details Get a Quote
TSPAN8 Knockout HeLa Cell Line EDJ-KQ26147 Human 7103 Details Get a Quote
TSPAN8 Knockout A-549 Cell Line EDJ-KQ63152 Human 7103 Details Get a Quote
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