TM9SF2 Gene: Transmembrane 9 Superfamily Member 2
A comprehensive biomedical overview of TM9SF2, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | TM9SF2 |
|---|---|
| Full Name | Transmembrane 9 Superfamily Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q32.3 |
| NCBI Gene ID | 9375 ncbi.nlm.nih.gov/gene/9375 |
| Ensembl ID | ENSG00000102468 |
| UniProt ID | Q99805 |
| OMIM ID | 604678 |
| HGNC ID | 11866 |
| Aliases | p76, EPG9, dJ366L4.1 |
Description
TM9SF2 encodes a member of the transmembrane 9 superfamily, a group of proteins characterized by nine transmembrane domains. The protein is localized to the Golgi apparatus and endosomes and is involved in intracellular vesicle trafficking, cell adhesion, and phagocytosis. TM9SF2 is ubiquitously expressed and has been implicated in cancer progression and immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect cell adhesion and vesicle trafficking, promoting tumorigenesis. | COSMIC; literature |
| Immunodeficiency (potential) | Role in phagocytosis suggests possible involvement in immune cell function. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 15.2 | Medium |
| Liver | 10.1 | Medium |
| Kidney | 14.0 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 20.5 | Cervical cancer cell line |
| A549 | 16.3 | Lung cancer cell line |
| HEK293 | 14.8 | Embryonic kidney cell line |
| K562 | 22.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.1% | Unknown functional effect |
| c.456G>A (p.Val152Met) | Missense | <0.1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Golgi apparatus | • endosome |
| • integral component of membrane | • protein transport |
| • cell adhesion | • phagocytosis |
Pathways
• Vesicle-mediated transport
• Endocytosis
Protein Summary
TM9SF2 is a 76 kDa multi-pass transmembrane protein with nine membrane-spanning domains. It localizes to the Golgi and endosomal compartments and participates in vesicle trafficking, cell-cell adhesion, and phagocytic uptake. The protein is conserved across eukaryotes and is thought to regulate membrane dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TM9SF2 Knockout HEK293 Cell Line | EDJ-KQ2121 | Human | 9375 | Details Get a Quote |
| TM9SF2 Knockout A-549 Cell Line | EDJ-KQ22263 | Human | 9375 | Details Get a Quote |
| TM9SF2 Knockout HCT 116 Cell Line | EDJ-KQ22264 | Human | 9375 | Details Get a Quote |
| TM9SF2 Knockout HeLa Cell Line | EDJ-KQ22265 | Human | 9375 | Details Get a Quote |
