TMEM204: Transmembrane Protein 204
A claudin-like tight junction protein involved in barrier function and cancer
Gene Information Card
| Symbol | TMEM204 |
|---|---|
| Full Name | Transmembrane Protein 204 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 79652 ncbi.nlm.nih.gov/gene/79652 |
| Ensembl ID | ENSG00000131669 |
| UniProt ID | Q9H9Z2 |
| OMIM ID | 617767 |
| HGNC ID | HGNC:28491 |
| Aliases | C16orf30, CLP24, HSPC236, MGC10986 |
Description
TMEM204 (Transmembrane Protein 204), also known as CLP24, encodes a claudin-like transmembrane protein that localizes to tight junctions. It is involved in cell-cell adhesion and barrier function. The gene is expressed in various tissues and has been implicated in cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may affect tight junction integrity and promote invasion | COSMIC; PubMed studies |
| Colorectal cancer | Downregulation associated with poor prognosis and metastasis | COSMIC; PubMed studies |
| Lung cancer | Differential expression observed in tumor vs normal tissue | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Liver | 8.7 | Low |
| Breast | 7.3 | Low |
| Colon | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 15.3 | High expression |
| MCF7 (breast) | 9.8 | Moderate expression |
| HCT116 (colon) | 5.4 | Low expression |
| HEK293 (embryonic kidney) | 11.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.1% | Unknown functional impact |
| c.341G>A (p.Arg114His) | Missense | <0.1% | Unknown functional impact |
| c.478_480del (p.Glu160del) | In-frame deletion | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Tight junction (KEGG: hsa04530)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
Protein Summary
TMEM204 encodes a 204-amino acid transmembrane protein with four transmembrane domains, characteristic of the claudin family. It localizes to tight junctions and mediates cell-cell adhesion. The protein is expressed in multiple tissues and is implicated in maintaining epithelial barrier integrity. Altered expression is observed in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM204 Knockout HEK293 Cell Line | EDJ-KQ17092 | Human | 79652 | Details Get a Quote |
| TMEM204 Knockout HeLa Cell Line | EDJ-KQ57199 | Human | 79652 | Details Get a Quote |
| TMEM204 Knockout A-549 Cell Line | EDJ-KQ65711 | Human | 79652 | Details Get a Quote |
| TMEM204 Knockout HCT 116 Cell Line | EDJ-KQ74131 | Human | 79652 | Details Get a Quote |
