TMEM174: Transmembrane Protein 174
A kidney-enriched transmembrane protein with potential roles in phosphate homeostasis and renal function
Gene Information Card
| Symbol | TMEM174 |
|---|---|
| Full Name | Transmembrane Protein 174 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 134549 ncbi.nlm.nih.gov/gene/134549 |
| Ensembl ID | ENSG00000164172 |
| UniProt ID | Q8NBN3 |
| OMIM ID | 616447 |
| HGNC ID | 28463 |
| Aliases | MGC33887 |
Description
TMEM174 encodes a transmembrane protein predominantly expressed in the kidney. It is localized to the plasma membrane and may function in phosphate transport or renal ion homeostasis. The protein contains two predicted transmembrane domains and is conserved across vertebrates. Limited functional studies suggest a role in kidney physiology, but detailed mechanisms remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypophosphatemia (suspected) | Potential involvement in renal phosphate reabsorption; TMEM174 variants may disrupt phosphate transport | In silico predictions; no direct clinical evidence in ClinVar or OMIM |
| Renal cell carcinoma | Altered TMEM174 expression observed in kidney cancer tissues | COSMIC database; expression changes noted in tumor samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 2.1 | Low |
| Testis | 1.8 | Low |
| Lung | 0.9 | Not detected |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.3 | Embryonic kidney cell line; moderate expression |
| HK-2 | 15.1 | Proximal tubule cell line; high expression |
| A549 | 0.4 | Lung carcinoma; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67Gln) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
| c.341T>C (p.Leu114Pro) | Missense | <0.01% | Unknown; predicted possibly damaging |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
| • phosphate ion transport (GO:0006817) |
Pathways
• Phosphate homeostasis (inferred from expression and localization)
Protein Summary
TMEM174 is a small transmembrane protein (approximately 20 kDa) with two predicted alpha-helical transmembrane domains. It is localized to the plasma membrane and is highly expressed in kidney proximal tubules. The protein may participate in phosphate transport or cellular signaling related to mineral ion balance. Structural predictions indicate a short extracellular loop and intracellular termini. No crystal structure is available; functional characterization is limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM174 Knockout HEK293 Cell Line | EDJ-KQ9337 | Human | 134288 | Details Get a Quote |
| TMEM174 Knockout HeLa Cell Line | EDJ-KQ58338 | Human | 134288 | Details Get a Quote |
| TMEM174 Knockout A-549 Cell Line | EDJ-KQ66827 | Human | 134288 | Details Get a Quote |
| TMEM174 Knockout HCT 116 Cell Line | EDJ-KQ75230 | Human | 134288 | Details Get a Quote |
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