C20orf144 Gene: Function, Expression, and Clinical Significance
Comprehensive resource for chromosome 20 open reading frame 144 (C20orf144) including genomic context, expression, and potential disease associations.
Gene Information Card
| Symbol | C20orf144 |
|---|---|
| Full Name | chromosome 20 open reading frame 144 |
| Gene Type | gene with protein product |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 128864 ncbi.nlm.nih.gov/gene/128864 |
| Ensembl ID | ENSG00000149609 |
| UniProt ID | Q9BQM9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:16137 |
| Aliases | dJ63M2.6, bclt |
Description
C20orf144 (chromosome 20 open reading frame 144) is a protein-coding gene located on chromosome 20 at 20q11.22. The gene is also known by the aliases dJ63M2.6 and bclt. The protein product is predicted to be involved in cellular processes, though its exact function remains to be fully characterized. Expression data suggest it is present in various tissues, with potential roles in normal physiology and disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not established | No specific disease association has been confirmed for C20orf144. Further research is needed to determine its role in pathology. | No direct evidence from ClinVar or OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Low expression |
| Brain | Not available | Low expression |
| Kidney | Not available | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | Low expression |
| A549 | Not available | Low expression |
| HepG2 | Not available | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No known pathogenic variants | Not applicable | Not available | No clinical significance reported. |
Mutation functional classification
Loss of Function (LOF)
No evidence for loss-of-function mutations in C20orf144.
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 yet annotated | • Biological process: Not yet annotated |
| • Cellular component: Not yet annotated |
Pathways
• No known pathways associated with C20orf144.
Protein Summary
The C20orf144 gene encodes a protein of unknown function. Based on sequence analysis, it may contain transmembrane domains or signal peptides, suggesting a possible role in membrane-associated processes. However, experimental validation is lacking. Further studies are required to elucidate its cellular function and potential involvement in disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C20orf144 Knockout HEK293 Cell Line | EDJ-KQ9202 | Human | 128864 | Details Get a Quote |
| C20orf144 Knockout HeLa Cell Line | EDJ-KQ58255 | Human | 128864 | Details Get a Quote |
| C20orf144 Knockout A-549 Cell Line | EDJ-KQ66743 | Human | 128864 | Details Get a Quote |
| C20orf144 Knockout HCT 116 Cell Line | EDJ-KQ75154 | Human | 128864 | Details Get a Quote |
