C6orf120 Gene: Function, Expression, and Clinical Significance
Comprehensive resource for C6orf120 (chromosome 6 open reading frame 120) including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | C6orf120 |
|---|---|
| Full Name | chromosome 6 open reading frame 120 |
| Gene Type | gene with protein product |
| Chromosomal Location | 6q27 |
| NCBI Gene ID | 387263 ncbi.nlm.nih.gov/gene/387263 |
| Ensembl ID | ENSG00000185127 |
| UniProt ID | Q7Z4R8 |
| OMIM ID | 616987 |
| HGNC ID | HGNC:21247 |
| Aliases | bA160E12.4 |
Description
C6orf120 is a protein-coding gene located on chromosome 6 at band q27. It is also known by the alias bA160E12.4. The gene is annotated in major databases including NCBI Gene (ID: 387263), Ensembl (ENSG00000185127), UniProt (Q7Z4R8), and OMIM (616987). The function of the encoded protein is not fully characterized, but it is predicted to be involved in cellular processes. Expression data from the Human Protein Atlas indicate low to moderate expression in various tissues, with highest levels in the thyroid and adrenal glands. The gene has been implicated in certain cancers and autoimmune conditions, though the mechanisms are not fully understood.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Potential involvement in tumor progression; altered expression observed in cancer tissues. | Expression data from Human Protein Atlas and literature reports. |
| Autoimmune thyroid disease | Possible association based on genetic linkage studies; exact mechanism unclear. | OMIM entry and genetic association studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 8.2 | Low |
| Adrenal gland | 7.5 | Low |
| Testis | 6.1 | Low |
| Lung | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Hep G2 | 5.0 | Hepatocellular carcinoma cell line |
| A549 | 4.2 | Lung carcinoma cell line |
| MCF7 | 3.8 | Breast adenocarcinoma cell line |
| K-562 | 3.5 | Chronic myelogenous leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of protein function due to start codon alteration. |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown effect; may affect protein stability. |
| c.250delA (p.Ser84ValfsTer19) | Frameshift | Very rare | Predicted to result in truncated protein, likely loss of function. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start codon mutations are predicted to lead to loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • biological_process: not yet annotated | • cellular_component: not yet annotated |
| • molecular_function: not yet annotated |
Protein Summary
The C6orf120 protein is predicted to be a small, uncharacterized protein. Based on sequence analysis, it may contain transmembrane domains, suggesting it could be a membrane-associated protein. However, its exact function remains unknown. Further studies are needed to elucidate its role in cellular processes and disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C6orf120 Knockout HEK293 Cell Line | EDJ-KQ11917 | Human | 387263 | Details Get a Quote |
| C6orf120 Knockout A-549 Cell Line | EDJ-KQ41692 | Human | 387263 | Details Get a Quote |
| C6orf120 Knockout HCT 116 Cell Line | EDJ-KQ41693 | Human | 387263 | Details Get a Quote |
| C6orf120 Knockout HeLa Cell Line | EDJ-KQ41694 | Human | 387263 | Details Get a Quote |
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