C6orf47: Chromosome 6 Open Reading Frame 47 – A Little-Known Gene with Potential Links to Immune and Inflammatory Conditions
Explore the genomic context, expression patterns, and clinical relevance of C6orf47, a gene of uncertain function located in the MHC region on chromosome 6.
Gene Information Card
| Symbol | C6orf47 |
|---|---|
| Full Name | Chromosome 6 Open Reading Frame 47 |
| Gene Type | Protein-coding |
| Chromosomal Location | 6p21.33 (within the MHC class III region) |
| NCBI Gene ID | 57824 ncbi.nlm.nih.gov/gene/57824 |
| Ensembl ID | ENSG00000204394 |
| UniProt ID | Q5T6F2 |
| OMIM ID | Not assigned (no OMIM entry found) |
| HGNC ID | HGNC:21058 |
| Aliases | C6orf47, bA350J14.1, FLJ20580 |
Description
C6orf47 is a protein-coding gene located on the short arm of chromosome 6 (6p21.33), within the major histocompatibility complex (MHC) class III region. This region is gene-dense and contains many genes involved in immune function. The function of the C6orf47 protein is not well characterized, but its location suggests potential involvement in immune-related processes. Expression data indicate low to moderate expression in various tissues, with notable presence in immune cells. No disease associations have been firmly established, but its genomic context makes it a candidate for studies on inflammatory and autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 3.2 | Low |
| Spleen | 2.8 | Low |
| Bone marrow | 2.5 | Low |
| Blood | 2.1 | Low |
| Other tissues | Below 1.0 | Not detected or very low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 1.5 | Low expression |
| HeLa (cervical cancer) | 0.8 | Very low |
| A549 (lung cancer) | 0.5 | Very low |
| GM12878 (lymphoblastoid) | 3.0 | Moderate for cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No clinically significant variants reported | N/A | N/A | No known effect |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations or their effects.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • No GO terms assigned (based on UniProt and Ensembl) |
Pathways
• No known pathways associated with C6orf47
Protein Summary
The C6orf47 protein is predicted to be a small, possibly transmembrane protein, but its function is unknown. It has no characterized domains or motifs. Based on its location in the MHC region, it may play a role in immune regulation, but experimental evidence is lacking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C6orf47 Knockout HEK293 Cell Line | EDJ-KQ12627 | Human | 57827 | Details Get a Quote |
| C6orf47 Knockout A-549 Cell Line | EDJ-KQ40393 | Human | 57827 | Details Get a Quote |
| C6orf47 Knockout HCT 116 Cell Line | EDJ-KQ41688 | Human | 57827 | Details Get a Quote |
| C6orf47 Knockout HeLa Cell Line | EDJ-KQ41689 | Human | 57827 | Details Get a Quote |
