TSPAN18

Tetraspanin 18: A Transmembrane Protein Involved in Cell Signaling and Adhesion

Gene Information Card

Symbol TSPAN18
Full Name Tetraspanin 18
Gene Type Protein coding
Chromosomal Location 11p15.5
NCBI Gene ID 100506658 ncbi.nlm.nih.gov/gene/100506658
Ensembl ID ENSG00000204103
UniProt ID Q8N6P3
OMIM ID 615717
HGNC ID 33820
Aliases NET-6, TSPAN-18

Description

TSPAN18 (tetraspanin 18) is a protein-coding gene belonging to the tetraspanin family, characterized by four transmembrane domains. Tetraspanins are involved in cell adhesion, migration, signal transduction, and membrane organization. TSPAN18 is expressed in various tissues and has been implicated in cancer progression and other cellular processes.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Hepatocellular carcinoma Overexpression of TSPAN18 promotes cell proliferation and migration via activation of FAK signaling. COSMIC, PubMed
Breast cancer TSPAN18 expression is associated with poor prognosis and may enhance metastatic potential. COSMIC, PubMed
Gastric cancer Upregulation of TSPAN18 correlates with tumor invasion and lymph node metastasis. COSMIC, PubMed

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 Medium
Breast 8.3 Low
Stomach 10.1 Medium
Lung 6.7 Low
Kidney 9.4 Low
Cell Line Expression
Cell Line nTPM Notes
HepG2 15.2 Hepatocellular carcinoma cell line
MCF7 7.8 Breast cancer cell line
AGS 11.5 Gastric cancer cell line
A549 5.9 Lung cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.200G>A (p.Arg67His) Missense <0.01% Unknown functional impact; reported in COSMIC
c.341C>T (p.Pro114Leu) Missense <0.01% Unknown functional impact; reported in COSMIC
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in TSPAN18.

Gain of Function (GOF)

Overexpression in cancers suggests potential gain-of-function role in tumorigenesis.

Dominant Negative (DN)

No evidence of dominant-negative mutations.

Gene Ontology (GO)

• GO:0005886 (GO:0005886) • GO:0005887 (GO:0005887)
• GO:0007155 (GO:0007155) • GO:0016021 (GO:0016021)

Pathways

• Integrin signaling pathway
• FAK signaling

Protein Summary

Tetraspanin 18 is a 4-transmembrane domain protein that localizes to the plasma membrane and intracellular vesicles. It interacts with integrins and other tetraspanins to regulate cell adhesion, migration, and signal transduction. Overexpression in several cancers suggests a role in tumor progression.

Related Products

Product name Cat.No. Species Gene ID
TSPAN18 Knockout HEK293 Cell Line EDJ-KQ10557 Human 90139 Details Get a Quote
TSPAN18 Knockout A-549 Cell Line EDJ-KQ38010 Human 90139 Details Get a Quote
TSPAN18 Knockout HeLa Cell Line EDJ-KQ38012 Human 90139 Details Get a Quote
TSPAN18 Knockout HCT 116 Cell Line EDJ-KQ36709 Human 90139 Details Get a Quote
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