C8orf44-SGK3
C8orf44-SGK3 readthrough transcript
Gene Information Card
| Symbol | C8orf44-SGK3 |
|---|---|
| Full Name | C8orf44-SGK3 readthrough |
| Gene Type | readthrough transcript (protein-coding) |
| Chromosomal Location | 8q22.2 |
| NCBI Gene ID | 100506142 ncbi.nlm.nih.gov/gene/100506142 |
| Ensembl ID | ENSG00000269335 |
| UniProt ID | Q96BR1 |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:40079 |
| Aliases | C8orf44-SGK3 fusion, SGK3-C8orf44 |
Description
C8orf44-SGK3 is a readthrough transcript resulting from the fusion of the C8orf44 and SGK3 genes on chromosome 8. This transcript produces a protein that combines sequences from both upstream (C8orf44) and downstream (SGK3) loci. The SGK3 portion encodes a serine/threonine protein kinase involved in cell survival and proliferation. The readthrough event may generate a chimeric protein with altered regulation or function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Potential oncogenic kinase activation via SGK3 domain | Limited evidence; inferred from SGK3 role in cancer |
| Hepatocellular carcinoma | Overexpression of SGK3 pathway components | Indirect; based on SGK3 literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 1.2 nTPM | Low |
| Liver | 0.8 nTPM | Low |
| Testis | 0.5 nTPM | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 0.9 nTPM | Low expression |
| HepG2 (liver cancer) | 0.6 nTPM | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • protein kinase activity | • ATP binding |
| • signal transduction |
Pathways
• PI3K/AKT signaling (via SGK3 domain)
Protein Summary
The C8orf44-SGK3 readthrough protein contains an N-terminal region derived from C8orf44 and a C-terminal serine/threonine kinase domain from SGK3. The SGK3 kinase domain is predicted to phosphorylate downstream targets involved in cell growth and survival. The functional impact of the C8orf44 portion remains unclear.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C8orf44-SGK3 Knockout HEK293 Cell Line | EDJ-KQ1525 | Human | 100533105 | Details Get a Quote |
| C8orf44-SGK3 Knockout HeLa Cell Line | EDJ-KQ60967 | Human | 100533105 | Details Get a Quote |
| C8orf44-SGK3 Knockout A-549 Cell Line | EDJ-KQ69442 | Human | 100533105 | Details Get a Quote |
| C8orf44-SGK3 Knockout HCT 116 Cell Line | EDJ-KQ77793 | Human | 100533105 | Details Get a Quote |
