C3orf52
Chromosome 3 Open Reading Frame 52
Gene Information Card
| Symbol | C3orf52 |
|---|---|
| Full Name | Chromosome 3 Open Reading Frame 52 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q13.13 |
| NCBI Gene ID | 79669 ncbi.nlm.nih.gov/gene/79669 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 617445 |
| HGNC ID | 25673 |
| Aliases | FLJ22170, MGC13170 |
Description
C3orf52 is a protein-coding gene located on chromosome 3q13.13. The encoded protein is of unknown function, but transcript expression has been detected in various tissues. Limited functional data are available; no established disease association has been confirmed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease association | Unknown | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 3.1 | Low |
| Lung | 2.8 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Low expression |
| HeLa | 3.5 | Low expression |
| K562 | 2.0 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Protein Summary
The C3orf52 protein (UniProt Q8N6T3) is 152 amino acids long with no characterized domains or known function. No structural or functional studies have been published.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C3orf52 Knockout HEK293 Cell Line | EDJ-KQ12612 | Human | 79669 | Details Get a Quote |
| C3orf52 Knockout A-549 Cell Line | EDJ-KQ41665 | Human | 79669 | Details Get a Quote |
| C3orf52 Knockout HCT 116 Cell Line | EDJ-KQ41666 | Human | 79669 | Details Get a Quote |
| C3orf52 Knockout HeLa Cell Line | EDJ-KQ41667 | Human | 79669 | Details Get a Quote |
