TMEM45B
Transmembrane Protein 45B: A hypoxia-regulated gene with potential roles in cancer and development
Gene Information Card
| Symbol | TMEM45B |
|---|---|
| Full Name | Transmembrane Protein 45B |
| Gene Type | Protein coding |
| Chromosomal Location | 11q24.3 |
| NCBI Gene ID | 120224 ncbi.nlm.nih.gov/gene/120224 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q6UWV2 |
| OMIM ID | Not available |
| HGNC ID | HGNC:26249 |
| Aliases | FLJ32942, MGC131891 |
Description
TMEM45B (Transmembrane Protein 45B) is a protein-coding gene located on chromosome 11q24.3. It encodes a transmembrane protein of unknown function, but expression studies suggest it is upregulated under hypoxic conditions and may be involved in cancer progression, particularly in breast and liver cancers. The gene is conserved in mammals and is expressed in various tissues, with highest levels in the placenta and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Upregulated under hypoxia; may promote tumor growth and metastasis | Expression profiling studies (PMID: 23455478) |
| Hepatocellular carcinoma | Overexpressed in tumor tissues; associated with poor prognosis | Immunohistochemistry and qPCR (PMID: 25634227) |
| Cervical cancer | Hypoxia-induced expression; potential role in radioresistance | In vitro studies (PMID: 24657932) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.3 | Medium |
| Testis | 8.7 | Low |
| Kidney | 6.2 | Low |
| Liver | 4.5 | Low |
| Breast | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | Hypoxia-induced |
| HepG2 (liver cancer) | 10.8 | Overexpressed |
| HeLa (cervical cancer) | 9.5 | Hypoxia-responsive |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T (p.Pro116Leu) | Missense | <0.01% | Unknown significance |
| c.523G>A (p.Val175Ile) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
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)
| • integral component of membrane | • cellular response to hypoxia |
Pathways
• Hypoxia-inducible factor (HIF) signaling
Protein Summary
TMEM45B is a 245-amino acid transmembrane protein with a single predicted transmembrane domain. Its exact function is unknown, but it is localized to the endoplasmic reticulum and plasma membrane. The protein is induced by hypoxia via HIF-1α and may modulate cell survival and proliferation under low oxygen conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM45B Knockout HEK293 Cell Line | EDJ-KQ7659 | Human | 120224 | Details Get a Quote |
| TMEM45B Knockout HeLa Cell Line | EDJ-KQ33017 | Human | 120224 | Details Get a Quote |
| TMEM45B Knockout A-549 Cell Line | EDJ-KQ66548 | Human | 120224 | Details Get a Quote |
| TMEM45B Knockout HCT 116 Cell Line | EDJ-KQ74964 | Human | 120224 | Details Get a Quote |
