RTL8C
Retrotransposon Gag Like 8C
Gene Information Card
| Symbol | RTL8C |
|---|---|
| Full Name | Retrotransposon Gag Like 8C |
| Gene Type | Protein coding |
| Chromosomal Location | Xq26.3 |
| NCBI Gene ID | 29920 ncbi.nlm.nih.gov/gene/29920 |
| Ensembl ID | ENSG00000169919 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 300831 |
| HGNC ID | HGNC:24242 |
| Aliases | SIRH8C, MART8C, Mar8C, RTL8C |
Description
RTL8C (Retrotransposon Gag Like 8C) is a protein-coding gene located on chromosome Xq26.3. It belongs to the retrotransposon Gag-like (RTL) family, which originated from ancient Ty3/Gypsy retrotransposons. The gene is predominantly expressed in testis and placenta, and its protein product is involved in cellular processes related to retrotransposon-derived functions. RTL8C is also known as SIRH8C (Sushi-Ichi Retrotransposon Homolog 8C) and MART8C.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Placenta | 8.2 | Low |
| Brain | 1.0 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Moderate expression |
| HeLa | 2.1 | Low expression |
| K562 | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • molecular_function (GO:0003674) | • cellular_component (GO:0005575) |
| • biological_process (GO:0008150) |
Protein Summary
The RTL8C protein (UniProt Q8N6T3) is a 244-amino acid protein with a predicted molecular mass of 27.5 kDa. It contains a retrotransposon Gag-like domain and is localized to the cytoplasm. The protein is thought to be involved in cellular processes derived from ancestral retrotransposon activity, though its precise function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RTL8C Knockout HEK293 Cell Line | EDJ-KQ6404 | Human | 8933 | Details Get a Quote |
| RTL8C Knockout HCT 116 Cell Line | EDJ-KQ29109 | Human | 8933 | Details Get a Quote |
| RTL8C Knockout A-549 Cell Line | EDJ-KQ30433 | Human | 8933 | Details Get a Quote |
| RTL8C Knockout HeLa Cell Line | EDJ-KQ30435 | Human | 8933 | Details Get a Quote |
