TMEM119: Transmembrane Protein 119
A microglia-specific marker and potential regulator of immune signaling
Gene Information Card
| Symbol | TMEM119 |
|---|---|
| Full Name | Transmembrane Protein 119 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.11 |
| NCBI Gene ID | 338773 ncbi.nlm.nih.gov/gene/338773 |
| Ensembl ID | ENSG00000166479 |
| UniProt ID | Q4V9L6 |
| OMIM ID | 617467 |
| HGNC ID | 28784 |
| Aliases | FLJ10769, MGC119751 |
Description
TMEM119 encodes a transmembrane protein that is highly and selectively expressed in microglia, the resident immune cells of the central nervous system. It is involved in immune signaling and may play a role in microglial function and neuroinflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | Altered microglial activation; TMEM119 expression changes observed in disease states | NCBI Gene, PubMed |
| Multiple sclerosis | TMEM119-positive microglia are implicated in demyelination and neuroinflammation | NCBI Gene, PubMed |
| Brain tumors (glioma) | TMEM119 expression used to identify tumor-associated microglia | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Spinal cord | 8.2 | Medium |
| Lung | 0.3 | Low |
| Spleen | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Microglia (primary) | 15.0 | High expression; specific marker |
| Monocytes | 0.5 | Low expression |
| HEK293 | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown functional effect |
| c.340G>A (p.Gly114Arg) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • immune response (GO:0006955) |
Pathways
• Microglia pathogen phagocytosis pathway (Reactome)
• Innate immune system (Reactome)
Protein Summary
TMEM119 is a 281-amino-acid transmembrane protein with a single transmembrane domain. It is localized to the plasma membrane and is a well-established marker for microglia. Its function is not fully characterized but is thought to involve immune signaling and cell-cell interactions in the brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM119 Knockout HEK293 Cell Line | EDJ-KQ15791 | Human | 338773 | Details Get a Quote |
| TMEM119 Knockout HeLa Cell Line | EDJ-KQ59624 | Human | 338773 | Details Get a Quote |
| TMEM119 Knockout A-549 Cell Line | EDJ-KQ68089 | Human | 338773 | Details Get a Quote |
| TMEM119 Knockout HCT 116 Cell Line | EDJ-KQ76464 | Human | 338773 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
