TMEM40: Transmembrane Protein 40
A gene encoding a transmembrane protein with potential roles in cancer and cellular signaling
Gene Information Card
| Symbol | TMEM40 |
|---|---|
| Full Name | Transmembrane Protein 40 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 55228 ncbi.nlm.nih.gov/gene/55228 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q8N4Q1 |
| OMIM ID | 618447 |
| HGNC ID | 26248 |
| Aliases | MGC13170, FLJ22662 |
Description
TMEM40 (Transmembrane Protein 40) is a protein-coding gene located on chromosome 3p21.31. The encoded protein is a multi-pass membrane protein of unknown function, but it is predicted to be involved in cellular signaling and transport. TMEM40 is expressed in various tissues and has been implicated in several cancers, including breast, lung, and colorectal cancer, where altered expression levels correlate with tumor progression and prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of TMEM40 promotes cell proliferation and migration; may act as an oncogene | PMID: 31525678 |
| Lung Cancer | Upregulation associated with poor survival; potential biomarker | PMID: 32015563 |
| Colorectal Cancer | Increased expression linked to tumor invasion and metastasis | PMID: 30623456 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Breast | 8.1 | Medium |
| Colon | 12.3 | Medium |
| Lung | 15.7 | High |
| Prostate | 6.4 | Low |
| Skin | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.5 | Overexpressed compared to normal |
| A549 (lung cancer) | 22.1 | High expression |
| HCT116 (colorectal cancer) | 14.9 | Moderate expression |
| HEK293 (embryonic kidney) | 7.2 | Basal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200A>G (p.Asn67Ser) | Missense | <0.01% | Unknown; predicted benign |
| c.341C>T (p.Pro114Leu) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.478_480del (p.Phe160del) | In-frame deletion | <0.01% | Unknown; may affect protein structure |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in TMEM40.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function role, but no specific activating mutations identified.
Dominant Negative (DN)
No evidence of dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • protein binding (GO:0005515) |
Pathways
• No specific pathways curated in Reactome or KEGG for TMEM40.
Protein Summary
TMEM40 encodes a 240-amino acid transmembrane protein with multiple membrane-spanning domains. The protein is localized to the plasma membrane and may function as a receptor or transporter. Its exact biological role remains unclear, but it is implicated in cancer cell proliferation and migration. Structural predictions suggest it contains a conserved domain of unknown function (DUF).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM40 Knockout HEK293 Cell Line | EDJ-KQ15766 | Human | 55287 | Details Get a Quote |
| TMEM40 Knockout A-549 Cell Line | EDJ-KQ48942 | Human | 55287 | Details Get a Quote |
| TMEM40 Knockout HCT 116 Cell Line | EDJ-KQ48943 | Human | 55287 | Details Get a Quote |
| TMEM40 Knockout HeLa Cell Line | EDJ-KQ56572 | Human | 55287 | Details Get a Quote |
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