TMEM120A
Transmembrane Protein 120A – Ion Channel and Adipogenesis Regulator
Gene Information Card
| Symbol | TMEM120A |
|---|---|
| Full Name | Transmembrane Protein 120A |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 83862 ncbi.nlm.nih.gov/gene/83862 |
| Ensembl ID | ENSG00000106511 |
| UniProt ID | Q9BXJ8 |
| OMIM ID | 618551 |
| HGNC ID | 28784 |
| Aliases | TACAN, NET29, FLJ13154 |
Description
TMEM120A (transmembrane protein 120A), also known as TACAN, is a protein-coding gene located on chromosome 7q11.23. The encoded protein functions as an ion channel involved in mechanical pain sensation and adipocyte differentiation. It is expressed in various tissues, with highest levels in adipose tissue and the nervous system. TMEM120A has been implicated in pain perception, metabolic disorders, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pain disorders (mechanical hyperalgesia) | TMEM120A forms a mechanosensitive ion channel; gain-of-function may enhance pain signaling | PMID: 31932796 |
| Obesity / metabolic syndrome | TMEM120A regulates adipogenesis; altered expression linked to adipose tissue dysfunction | PMID: 29590628 |
| Cancer (breast, colorectal) | Overexpression in tumors may promote cell proliferation and migration | COSMIC, TCGA data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Spinal cord | 10.1 | Medium |
| Breast | 6.7 | Low |
| Colon | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 9.8 | Medium expression |
| MCF7 | 7.4 | Low expression |
| HCT116 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.452G>A (p.Arg151His) | Missense | 0.005% (gnomAD) | Predicted benign |
| c.788_789insA | Frameshift | <0.001% | Loss of function (predicted) |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertions (e.g., c.788_789insA) likely cause loss of function via premature truncation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; missense variants require functional validation.
Dominant Negative (DN)
Not described for TMEM120A.
View complete mutation data：
Gene Ontology (GO)
| • mechanosensitive ion channel activity (GO:0008381) | • ion transport (GO:0006811) |
| • transmembrane transport (GO:0055085) | • cell differentiation (GO:0030154) |
| • fat cell differentiation (GO:0045444) |
Pathways
• Mechanotransduction (pain signaling)
• Adipogenesis pathway
Protein Summary
TMEM120A (TACAN) is a 307-amino-acid transmembrane protein that forms a homomeric ion channel activated by mechanical stimuli. It is localized to the plasma membrane and endoplasmic reticulum. The protein plays a key role in sensing mechanical pain and regulating adipocyte differentiation. Structural studies reveal a tetrameric channel architecture with a central pore.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM120A Knockout HEK293 Cell Line | EDJ-KQ1378 | Human | 83862 | Details Get a Quote |
| TMEM120A Knockout A-549 Cell Line | EDJ-KQ22175 | Human | 83862 | Details Get a Quote |
| TMEM120A Knockout HCT 116 Cell Line | EDJ-KQ22176 | Human | 83862 | Details Get a Quote |
| TMEM120A Knockout HeLa Cell Line | EDJ-KQ22177 | Human | 83862 | Details Get a Quote |
