TMEM115
Transmembrane Protein 115: Golgi-associated trafficking and potential tumor suppressor
Gene Information Card
| Symbol | TMEM115 |
|---|---|
| Full Name | Transmembrane Protein 115 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 11070 ncbi.nlm.nih.gov/gene/11070 |
| Ensembl ID | ENSG00000114450 |
| UniProt ID | Q9BTA9 |
| OMIM ID | 613934 |
| HGNC ID | 28743 |
| Aliases | C3orf10, HSPC062, MGC13170 |
Description
TMEM115 encodes a multi-pass transmembrane protein localized to the Golgi apparatus. It is involved in retrograde transport from the Golgi to the endoplasmic reticulum and may function as a tumor suppressor. The protein interacts with COPI coatomer components and is required for Golgi ribbon formation and protein glycosylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Potential tumor suppressor; reduced expression correlates with poor prognosis | PMID: 25605248 |
| Colorectal cancer | Loss of heterozygosity at 3q21.3; downregulation in tumor tissues | PMID: 22952447 |
| Gastric cancer | Hypermethylation of promoter leading to silencing | PMID: 27197162 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain cortex | 8.3 | Low |
| Liver | 15.2 | Medium |
| Pancreas | 10.1 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cell line |
| HCT116 | 7.6 | Colorectal cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.421C>T (p.Arg141Trp) | Missense | 0.005% (gnomAD) | Predicted damaging (SIFT, PolyPhen) |
| c.544_545insA (p.Thr182Asnfs*3) | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause truncated protein and loss of Golgi trafficking function.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No known dominant-negative mutations.
View complete mutation data:
Gene Ontology (GO)
| • Golgi membrane (GO:0000139) | • retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) |
| • vesicle-mediated transport (GO:0016192) | • Golgi apparatus (GO:0005794) |
| • vesicle coat (GO:0030120) |
Pathways
• COPI-dependent Golgi-to-ER retrograde transport
• Golgi ribbon formation
Protein Summary
TMEM115 is a 246-amino acid transmembrane protein with three predicted transmembrane domains. It localizes to the Golgi apparatus and interacts with COPI coatomer subunits. The protein is essential for maintaining Golgi structure and function, including protein glycosylation and retrograde trafficking. Reduced expression is observed in several cancers, suggesting a tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM115 Knockout HEK293 Cell Line | EDJ-KQ7267 | Human | 11070 | Details Get a Quote |
| TMEM115 Knockout A-549 Cell Line | EDJ-KQ32284 | Human | 11070 | Details Get a Quote |
| TMEM115 Knockout HCT 116 Cell Line | EDJ-KQ32285 | Human | 11070 | Details Get a Quote |
| TMEM115 Knockout HeLa Cell Line | EDJ-KQ32286 | Human | 11070 | Details Get a Quote |