C19orf73 (Chromosome 19 Open Reading Frame 73)
A poorly characterized protein-coding gene with potential roles in cancer and cellular processes.
Gene Information Card
| Symbol | C19orf73 |
|---|---|
| Full Name | chromosome 19 open reading frame 73 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 100132074 ncbi.nlm.nih.gov/gene/100132074 |
| Ensembl ID | ENSG00000267260 |
| UniProt ID | A0A0A0MRZ3 |
| OMIM ID | Not available |
| HGNC ID | 33732 |
| Aliases | MGC163417 |
Description
C19orf73 is a protein-coding gene located on chromosome 19 at p13.11. It is also known as MGC163417. The gene is relatively uncharacterized, but its expression has been detected in various tissues and cell lines. Limited studies suggest potential involvement in cancer and other cellular processes, though functional evidence is still emerging.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Cancer (general) | Altered expression observed; potential role in tumorigenesis, but specific mechanism not fully defined. | Expression data from GTEx and CCLE; limited literature. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Testis | 10.2 | Low |
| Thyroid | 8.5 | Low |
| Adrenal gland | 7.1 | Low |
| Prostate | 6.3 | Low |
| Other tissues | <5 | Not detected or very low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| NCI-H661 (lung) | 12.5 | Highest among cancer cell lines |
| MCF7 (breast) | 8.2 | Moderate |
| A549 (lung) | 6.4 | Low |
| K562 (leukemia) | 3.1 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| c.1A>G (p.Met1Val) | Missense | 0.00001 (gnomAD) | Potential start codon loss, may affect translation |
| c.100C>T (p.Arg34Trp) | Missense | 0.00002 (gnomAD) | Unknown functional impact |
| c.250delC (p.Leu84TrpfsTer5) | Frameshift | Not reported | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function, but no functional studies have confirmed this.
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)
| • Molecular function: Not assigned | • Biological process: Not assigned |
| • Cellular component: Not assigned |
Pathways
• No known pathways
Protein Summary
The C19orf73 protein is predicted to be a small, uncharacterized protein of 101 amino acids. It has no known domains or motifs. Its function remains largely unknown, and no experimental studies have characterized its biochemical activity or subcellular localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C19orf73 Knockout HEK293 Cell Line | EDJ-KQ51426 | Human | 55150 | Details Get a Quote |
| C19orf73 Knockout HeLa Cell Line | EDJ-KQ56545 | Human | 55150 | Details Get a Quote |
| C19orf73 Knockout A-549 Cell Line | EDJ-KQ65040 | Human | 55150 | Details Get a Quote |
| C19orf73 Knockout HCT 116 Cell Line | EDJ-KQ73486 | Human | 55150 | Details Get a Quote |
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