TSPAN14
Tetraspanin 14: A Regulator of ADAM10-Dependent Shedding and Immune Signaling
Gene Information Card
| Symbol | TSPAN14 |
|---|---|
| Full Name | Tetraspanin 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.1 |
| NCBI Gene ID | 81619 ncbi.nlm.nih.gov/gene/81619 |
| Ensembl ID | ENSG00000120068 |
| UniProt ID | Q8NG11 |
| OMIM ID | 610296 |
| HGNC ID | 30703 |
| Aliases | DC-TM4F2, TM4SF14, TSPAN14 |
Description
TSPAN14 (Tetraspanin 14) is a member of the tetraspanin family, characterized by four transmembrane domains. It functions as a molecular organizer of the ADAM10 sheddase complex, facilitating the cleavage of cell surface proteins such as Notch receptors and adhesion molecules. TSPAN14 is involved in immune cell regulation, particularly in dendritic cells and T cells, and plays a role in cell migration, adhesion, and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered TSPAN14 expression may modulate ADAM10 activity, affecting Notch and other signaling pathways involved in tumor progression. | COSMIC, NCBI Gene |
| Immunodeficiency | Mutations in TSPAN14 may impair ADAM10-dependent shedding of immune receptors, leading to defective immune responses. | OMIM, ClinVar |
| Developmental disorders | Disruption of TSPAN14-mediated Notch signaling can cause developmental abnormalities. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 9.2 | Medium |
| Lung | 7.1 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| Jurkat | 12.8 | High expression |
| HeLa | 8.5 | Medium expression |
| HepG2 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116Gln) | Missense | <0.01% | Unknown functional impact |
| c.523C>T (p.Arg175Trp) | Missense | <0.01% | Potential loss of function |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) are predicted to abolish protein expression. Missense variants in conserved regions may disrupt ADAM10 interaction.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • cell surface receptor signaling pathway |
| • cell adhesion | • Notch signaling pathway |
| • membrane raft organization | • positive regulation of cell migration |
Pathways
• Notch signaling
• ADAM10-mediated shedding
• Integrin signaling
Protein Summary
TSPAN14 is a 4-transmembrane protein that localizes to the plasma membrane and endosomes. It forms complexes with ADAM10, regulating its trafficking and substrate specificity. TSPAN14 is essential for efficient Notch receptor cleavage and subsequent signaling. It also modulates cell adhesion and migration through interactions with integrins and other tetraspanins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSPAN14 Knockout HEK293 Cell Line | EDJ-KQ9729 | Human | 81619 | Details Get a Quote |
| TSPAN14 Knockout A-549 Cell Line | EDJ-KQ35319 | Human | 81619 | Details Get a Quote |
| TSPAN14 Knockout HCT 116 Cell Line | EDJ-KQ36551 | Human | 81619 | Details Get a Quote |
| TSPAN14 Knockout HeLa Cell Line | EDJ-KQ36552 | Human | 81619 | Details Get a Quote |
