SMIM45 Gene: Function, Expression, and Clinical Significance
Comprehensive resource for small integral membrane protein 45 (SMIM45) on chromosome 22q13.2.
Gene Information Card
| Symbol | SMIM45 |
|---|---|
| Full Name | small integral membrane protein 45 |
| Gene Type | gene with protein product |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 339674 ncbi.nlm.nih.gov/gene/339674 |
| Ensembl ID | ENSG00000205704 |
| UniProt ID | A0A590UK83 |
| OMIM ID | Not available |
| HGNC ID | HGNC:27930 |
| Aliases | LINC00634 |
Description
SMIM45 (small integral membrane protein 45) is a protein-coding gene located on chromosome 22 at q13.2. It was previously known as LINC00634. The gene is predicted to encode a small integral membrane protein, but its exact function remains largely uncharacterized. SMIM45 is expressed in various tissues, with notable expression in the testis and some other tissues. Further research is needed to elucidate its biological roles and potential implications in disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not established | No known disease association | No curated evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 8.1 | Low |
| Adrenal gland | 6.5 | Low |
| Prostate | 5.9 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 3.5 | Low expression |
| K562 | 2.1 | Low expression |
| MCF7 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | Not available | Not determined |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data：
Protein Summary
The SMIM45 protein is a small integral membrane protein predicted to be localized to cellular membranes. Its exact function is unknown, but it may play a role in cellular signaling or transport. The protein sequence is available from UniProt (A0A590UK83).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMIM45 Knockout HEK293 Cell Line | EDJ-KQ15399 | Human | 339674 | Details Get a Quote |
| SMIM45 Knockout A-549 Cell Line | EDJ-KQ46155 | Human | 339674 | Details Get a Quote |
| SMIM45 Knockout HCT 116 Cell Line | EDJ-KQ46156 | Human | 339674 | Details Get a Quote |
| SMIM45 Knockout HeLa Cell Line | EDJ-KQ46157 | Human | 339674 | Details Get a Quote |
