TM4SF19
Transmembrane 4 L Six Family Member 19
Gene Information Card
| Symbol | TM4SF19 |
|---|---|
| Full Name | Transmembrane 4 L Six Family Member 19 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 116211 ncbi.nlm.nih.gov/gene/116211 |
| Ensembl ID | ENSG00000163947 |
| UniProt ID | Q96E14 |
| OMIM ID | 613551 |
| HGNC ID | 30757 |
| Aliases | L6H, MGC45871 |
Description
TM4SF19 encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. The protein is characterized by four transmembrane domains and is involved in cell surface signaling, cell adhesion, and migration. It is expressed in various tissues and has been implicated in immune responses and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric Cancer | Overexpression associated with poor prognosis; may promote cell proliferation and invasion | PMID: 25636874 |
| Hepatocellular Carcinoma | Upregulation linked to tumor growth and metastasis | PMID: 28407146 |
| Rheumatoid Arthritis | Increased expression in synovial fibroblasts; contributes to inflammation | PMID: 29158557 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Liver | 6.1 | Low |
| Stomach | 15.2 | Medium |
| Bone Marrow | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 18.9 | High expression |
| HepG2 (liver cancer) | 9.4 | Moderate expression |
| K562 (leukemia) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown significance |
| c.521A>G (p.Asn174Ser) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • cell adhesion (GO:0007155) | • negative regulation of cell proliferation (GO:0008285) |
Pathways
• Integrin signaling pathway
• Cell adhesion molecules (CAMs)
Protein Summary
TM4SF19 is a tetraspanin protein with four transmembrane domains. It localizes to the plasma membrane and participates in cell adhesion and migration. The protein interacts with integrins and other membrane proteins, modulating signaling pathways involved in immune cell function and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TM4SF19 Knockout HEK293 Cell Line | EDJ-KQ7554 | Human | 116211 | Details Get a Quote |
| TM4SF19 Knockout A-549 Cell Line | EDJ-KQ31504 | Human | 116211 | Details Get a Quote |
| TM4SF19 Knockout HCT 116 Cell Line | EDJ-KQ32856 | Human | 116211 | Details Get a Quote |
| TM4SF19 Knockout HeLa Cell Line | EDJ-KQ57975 | Human | 116211 | Details Get a Quote |
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