TSPAN16
Tetraspanin 16: A transmembrane protein with potential roles in cell adhesion and signaling
Gene Information Card
| Symbol | TSPAN16 |
|---|---|
| Full Name | Tetraspanin 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 7100 ncbi.nlm.nih.gov/gene/7100 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q9Y2J0 |
| OMIM ID | 613277 |
| HGNC ID | 30768 |
| Aliases | TM4SF16, TSPAN-16 |
Description
TSPAN16 (tetraspanin 16) is a protein-coding gene belonging to the tetraspanin family, characterized by four transmembrane domains. Tetraspanins are involved in cell adhesion, migration, and signal transduction through the organization of membrane microdomains. TSPAN16 is expressed in various tissues and may play roles in cellular processes including proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may influence tumor cell adhesion and migration; potential biomarker | Limited evidence from expression studies; no direct causal mutation established |
| Developmental disorders | Possible involvement in cell signaling pathways | Inferred from family member functions; no specific disease association confirmed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Liver | 6.1 | Low |
| Brain | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 10.5 | Moderate expression |
| A549 | 7.8 | Low expression |
| MCF7 | 5.3 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.456G>A (p.Val152Met) | Missense | <0.01% | Unknown; no functional studies reported |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in TSPAN16.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • GO:0005886 (GO:0005886) | • GO:0005887 (GO:0005887) |
| • GO:0005515 (GO:0005515) | • GO:0007155 (GO:0007155) |
| • GO:0007165 (GO:0007165) |
Pathways
• Integrin signaling pathway (inferred)
• Cell adhesion molecules (inferred)
Protein Summary
Tetraspanin 16 is a 245-amino acid transmembrane protein with four membrane-spanning domains. It localizes to the plasma membrane and may interact with integrins and other tetraspanins to modulate cell adhesion and signaling. The protein is expressed in multiple tissues, with highest levels in testis. Its precise biological function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSPAN16 Knockout HEK293 Cell Line | EDJ-KQ8549 | Human | 26526 | Details Get a Quote |
| TSPAN16 Knockout HeLa Cell Line | EDJ-KQ55945 | Human | 26526 | Details Get a Quote |
| TSPAN16 Knockout A-549 Cell Line | EDJ-KQ64432 | Human | 26526 | Details Get a Quote |
| TSPAN16 Knockout HCT 116 Cell Line | EDJ-KQ72887 | Human | 26526 | Details Get a Quote |