TM9SF4 Transmembrane 9 Superfamily Member 4
A gene encoding a protein involved in endosomal trafficking and autophagy, with implications in cancer and immune response.
Gene Information Card
| Symbol | TM9SF4 |
|---|---|
| Full Name | Transmembrane 9 Superfamily Member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 9777 ncbi.nlm.nih.gov/gene/9777 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q92544 |
| OMIM ID | 616657 |
| HGNC ID | 11867 |
| Aliases | KIAA0255, p76, FLJ20291 |
Description
TM9SF4 encodes a member of the transmembrane 9 superfamily, a group of proteins characterized by nine transmembrane domains. The protein localizes to endosomes and lysosomes and is involved in endosomal trafficking, autophagy, and cell adhesion. It plays a role in the regulation of immune responses and has been implicated in cancer progression, particularly in melanoma and colorectal cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | TM9SF4 overexpression promotes tumor cell invasion and metastasis through modulation of endosomal trafficking and autophagy. | PMID: 25605247 |
| Colorectal Cancer | Upregulation of TM9SF4 is associated with poor prognosis and may enhance cell migration and invasion. | PMID: 28708995 |
| Immune Dysregulation | TM9SF4 influences antigen presentation and T-cell activation via endosomal pathway modulation. | PMID: 23543762 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 15.2 | Medium |
| Spleen | 12.8 | Medium |
| Bone marrow | 10.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 7.1 | Low |
| Skin | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression in embryonic kidney cells |
| HeLa | 14.2 | Moderate expression in cervical cancer cells |
| A375 | 22.1 | High expression in melanoma cell line |
| HCT116 | 16.7 | High expression in colorectal cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Unknown functional impact; rare variant |
| c.1456C>T (p.Arg486Trp) | Missense | <0.01% | Reported in COSMIC; potential loss-of-function |
| c.789_790insA | Frameshift | <0.01% | Predicted to cause protein truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to loss of protein function, impairing endosomal trafficking.
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)
Pathways
• Endosomal trafficking (Reactome: R-HSA-199991)
• Autophagy (Reactome: R-HSA-9612973)
Protein Summary
TM9SF4 is a multi-pass transmembrane protein with nine membrane-spanning domains. It is primarily localized to endosomes and lysosomes, where it regulates membrane trafficking and autophagic flux. The protein interacts with other endosomal components to facilitate cargo sorting and degradation. Its expression is enriched in immune tissues and certain cancers, suggesting a role in tumor progression and immune modulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TM9SF4 Knockout HEK293 Cell Line | EDJ-KQ6748 | Human | 9777 | Details Get a Quote |
| TM9SF4 Knockout HCT 116 Cell Line | EDJ-KQ31162 | Human | 9777 | Details Get a Quote |
| TM9SF4 Knockout HeLa Cell Line | EDJ-KQ31163 | Human | 9777 | Details Get a Quote |
| TM9SF4 Knockout A-549 Cell Line | EDJ-KQ29808 | Human | 9777 | Details Get a Quote |
