C3orf38
Chromosome 3 Open Reading Frame 38
Gene Information Card
| Symbol | C3orf38 |
|---|---|
| Full Name | Chromosome 3 Open Reading Frame 38 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 285205 ncbi.nlm.nih.gov/gene/285205 |
| Ensembl ID | ENSG00000188313 |
| UniProt ID | Q5JPI3 |
| OMIM ID | 617442 |
| HGNC ID | 26778 |
| Aliases | FLJ25333, MGC16384 |
Description
C3orf38 is a protein-coding gene located on the long arm of chromosome 3 (3q29). The encoded protein has no well-characterized function but is predicted to be involved in cellular processes. Limited expression data suggest low to moderate levels in certain tissues. No strong disease associations have been established to date.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Unknown | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Brain | 1.5 | Low |
| Lung | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.2 | Low expression |
| HeLa | 0.9 | Low expression |
| K562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Protein Summary
The C3orf38 protein (UniProt Q5JPI3) is 244 amino acids long with no known domains or functional motifs. Its biological role remains uncharacterized, and no structural or functional studies have been published.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C3orf38 Knockout HEK293 Cell Line | EDJ-KQ11902 | Human | 285237 | Details Get a Quote |
| C3orf38 Knockout A-549 Cell Line | EDJ-KQ41661 | Human | 285237 | Details Get a Quote |
| C3orf38 Knockout HCT 116 Cell Line | EDJ-KQ41663 | Human | 285237 | Details Get a Quote |
| C3orf38 Knockout HeLa Cell Line | EDJ-KQ41664 | Human | 285237 | Details Get a Quote |
