C8orf74 (Chromosome 8 Open Reading Frame 74)
A poorly characterized protein-coding gene with potential roles in cancer and neurodevelopment.
Gene Information Card
| Symbol | C8orf74 |
|---|---|
| Full Name | chromosome 8 open reading frame 74 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 285315 ncbi.nlm.nih.gov/gene/285315 |
| Ensembl ID | ENSG00000165029 |
| UniProt ID | Q5VU97 |
| OMIM ID | Not available |
| HGNC ID | 26169 |
| Aliases | FLJ25715, MGC138380 |
Description
C8orf74 is a protein-coding gene located on chromosome 8 at q21.13. It is also known as FLJ25715 and MGC138380. The gene spans approximately 12.5 kb and contains 5 exons. The encoded protein is predicted to be a membrane-associated protein with a conserved domain of unknown function (DUF4602). C8orf74 is expressed in various tissues, with notable expression in the brain and testis. Its function is not fully characterized, but studies suggest potential roles in neurodevelopment and cancer. Altered expression of C8orf74 has been observed in certain tumors, and it may serve as a biomarker or therapeutic target. However, further research is needed to elucidate its precise biological functions and disease associations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression; potential oncogenic or tumor suppressive role | COSMIC database shows mutations and expression changes in multiple cancer types |
| Neurodevelopmental disorders | Possible involvement in brain development; expression in fetal brain | Expression data from GTEx and literature |
| Infertility | High expression in testis; potential role in spermatogenesis | Expression data from GTEx |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | Medium |
| Brain (cerebellum) | 18.7 | Medium |
| Brain (cortex) | 15.2 | Medium |
| Thyroid | 12.4 | Low |
| Adrenal gland | 10.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 8.5 | Low expression |
| HeLa (cervical cancer) | 6.2 | Low expression |
| A549 (lung cancer) | 5.1 | Low expression |
| HepG2 (liver cancer) | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare (MAF <0.01) | Potential loss of start codon; may affect translation |
| c.352C>T (p.Arg118Trp) | Missense | Rare (MAF <0.01) | Unknown; possibly damaging (in silico predictions) |
| c.500_501insA (p.Gly167GlufsTer5) | Frameshift | Rare (MAF <0.01) | Predicted to cause premature stop codon; likely loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to result in loss of function, potentially leading to haploinsufficiency or dominant-negative effects if the mutant protein interferes with normal function.
Gain of Function (GOF)
No evidence for gain-of-function mutations; most variants are predicted to be loss-of-function or neutral.
Dominant Negative (DN)
No evidence for dominant-negative effects; however, if the protein forms dimers, some missense mutations could exert dominant-negative effects, but this is speculative.
View complete mutation data：
Gene Ontology (GO)
| • molecular_function: molecular_function (GO:0003674) | • biological_process: biological_process (GO:0008150) |
| • cellular_component: cellular_component (GO:0005575) |
Protein Summary
The C8orf74 protein is predicted to be a membrane-associated protein with a conserved domain of unknown function (DUF4602). It is 274 amino acids long and has a molecular weight of approximately 30 kDa. The protein is predicted to have one transmembrane helix, suggesting it may be a receptor or transporter. Its function is unknown, but it is expressed in the brain and testis, indicating a possible role in neuronal signaling or reproduction. Further studies are needed to characterize its biochemical function and cellular role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C8orf74 Knockout HEK293 Cell Line | EDJ-KQ5415 | Human | 203076 | Details Get a Quote |
| C8orf74 Knockout HeLa Cell Line | EDJ-KQ59039 | Human | 203076 | Details Get a Quote |
| C8orf74 Knockout A-549 Cell Line | EDJ-KQ67518 | Human | 203076 | Details Get a Quote |
| C8orf74 Knockout HCT 116 Cell Line | EDJ-KQ75916 | Human | 203076 | Details Get a Quote |
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