C20orf173 Gene - Chromosome 20 Open Reading Frame 173
Comprehensive resource for C20orf173 (chromosome 20 open reading frame 173), including gene function, expression, mutations, and related diseases.
Gene Information Card
| Symbol | C20orf173 |
|---|---|
| Full Name | chromosome 20 open reading frame 173 |
| Gene Type | gene with protein product |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 140873 ncbi.nlm.nih.gov/gene/140873 |
| Ensembl ID | ENSG00000125975 |
| UniProt ID | Q96LM9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:16166 |
| Aliases | dJ477O4.4 |
Description
C20orf173 (chromosome 20 open reading frame 173) is a protein-coding gene located on chromosome 20 at 20q11.22. The gene is also known by the alias dJ477O4.4. The protein product is annotated in UniProt as Q96LM9. Currently, the function of the protein is not well characterized, and no associated diseases have been reported. The gene is expressed in various tissues, suggesting a potential role in normal cellular processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not available | Not available | No disease associations have been reported for C20orf173. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.9 | Low |
| Thyroid | 6.2 | Low |
| Adrenal gland | 5.1 | Low |
| Small intestine | 4.8 | Low |
| Colon | 4.5 | Low |
| Kidney | 4.3 | Low |
| Liver | 3.9 | Low |
| Lung | 3.7 | Low |
| Spleen | 3.5 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 4.2 | Hepatocellular carcinoma |
| A549 | 3.8 | Lung carcinoma |
| MCF7 | 3.5 | Breast adenocarcinoma |
| HEK293 | 3.1 | Embryonic kidney |
| K562 | 2.9 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Not available | Potential start codon loss, may affect translation |
| c.100C>T (p.Arg34*) | Nonsense | Not available | Premature stop codon, likely loss of function |
| c.200_201insA (p.Asn67Lysfs*2) | Frameshift | Not available | Frameshift, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Variants that introduce premature stop codons or frameshifts are predicted to result in loss of function due to truncated or absent protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations in C20orf173.
Dominant Negative (DN)
No evidence for dominant-negative mutations in C20orf173.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: Not available | • Biological process: Not available |
| • Cellular component: Not available |
Protein Summary
The protein encoded by C20orf173 is predicted to be a small, uncharacterized protein. Its function is not yet known, and no structural or functional domains have been identified. Further research is needed to elucidate its role in cellular processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C20orf173 Knockout HEK293 Cell Line | EDJ-KQ9828 | Human | 140873 | Details Get a Quote |
| C20orf173 Knockout HeLa Cell Line | EDJ-KQ58467 | Human | 140873 | Details Get a Quote |
| C20orf173 Knockout A-549 Cell Line | EDJ-KQ66954 | Human | 140873 | Details Get a Quote |
| C20orf173 Knockout HCT 116 Cell Line | EDJ-KQ75355 | Human | 140873 | Details Get a Quote |
