TMEM214: Transmembrane Protein 214
A key regulator of ER stress-induced apoptosis and innate immune signaling
Gene Information Card
| Symbol | TMEM214 |
|---|---|
| Full Name | Transmembrane Protein 214 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 54867 ncbi.nlm.nih.gov/gene/54867 |
| Ensembl ID | ENSG00000115138 |
| UniProt ID | Q9NQZ2 |
| OMIM ID | 617203 |
| HGNC ID | 28478 |
| Aliases | FLJ20489, MGC13170 |
Description
TMEM214 encodes a transmembrane protein localized to the endoplasmic reticulum (ER). It plays a critical role in ER stress-induced apoptosis by mediating the recruitment of caspase-4 to the ER membrane. Additionally, TMEM214 is involved in innate immune signaling through the regulation of the STING pathway, influencing type I interferon production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression may promote apoptosis resistance | COSMIC, NCBI Gene |
| Colorectal cancer | Altered expression linked to tumor progression | COSMIC |
| Viral infections | Modulation of STING-dependent antiviral responses | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.2 | Medium expression |
| MCF7 | 11.0 | Medium expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | 0.01% | Unknown functional impact |
| c.1024G>A (p.Val342Met) | Missense | 0.005% | Potential loss of function |
| c.1366_1368del (p.Lys456del) | In-frame deletion | 0.002% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair ER membrane recruitment of caspase-4, reducing apoptosis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • integral component of membrane (GO:0016021) |
| • positive regulation of apoptotic process (GO:0043065) | • innate immune response (GO:0045087) |
| • activation of innate immune response (GO:0002218) |
Pathways
• ER stress-induced apoptosis (caspase-4 recruitment)
• STING-mediated innate immune signaling
Protein Summary
TMEM214 is a 456-amino acid transmembrane protein with multiple membrane-spanning domains. It localizes to the ER membrane and acts as a scaffold for caspase-4 during ER stress, promoting apoptosis. It also interacts with STING to modulate type I interferon responses. The protein is broadly expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Tmem214 Knockout RAW 264.7 Cell Line | EDJ-KQ63 | Mouse | 68796 | Details Get a Quote |
| TMEM214 Knockout HEK293 Cell Line | EDJ-KQ3629 | Human | 54867 | Details Get a Quote |
| TMEM214 Knockout A-549 Cell Line | EDJ-KQ24195 | Human | 54867 | Details Get a Quote |
| TMEM214 Knockout HCT 116 Cell Line | EDJ-KQ25570 | Human | 54867 | Details Get a Quote |
| TMEM214 Knockout HeLa Cell Line | EDJ-KQ25571 | Human | 54867 | Details Get a Quote |
| TMEM214 Knockout ARPE-19 Cell Line | EDJ-KZ513 | Human | 54867 | Details Get a Quote |
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