CEP295NL
Centrosomal Protein 295 N-Terminal Like
Gene Information Card
| Symbol | CEP295NL |
|---|---|
| Full Name | Centrosomal Protein 295 N-Terminal Like |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 100506142 ncbi.nlm.nih.gov/gene/100506142 |
| Ensembl ID | ENSG00000267673 |
| UniProt ID | A0A1B0GTV6 |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:52789 |
| Aliases | KIAA1731NL, C17orf104 |
Description
CEP295NL (Centrosomal Protein 295 N-Terminal Like) is a protein-coding gene located on chromosome 17q21.31. It is predicted to be involved in centrosome organization and cell cycle regulation, based on homology to CEP295. Limited functional characterization is available.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.3 | Low |
| Brain | 1.1 | Low |
| Lung | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.5 | Low expression |
| HeLa | 0.9 | Not detected |
| K562 | 0.6 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported 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 CEP295NL protein is a predicted centrosomal component with an N-terminal domain similar to CEP295. Its exact function remains largely uncharacterized, but it may play a role in centrosome duplication or microtubule organization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP295NL Knockout HEK293 Cell Line | EDJ-KQ12873 | Human | 100653515 | Details Get a Quote |
| CEP295NL Knockout HeLa Cell Line | EDJ-KQ60981 | Human | 100653515 | Details Get a Quote |
| CEP295NL Knockout A-549 Cell Line | EDJ-KQ69456 | Human | 100653515 | Details Get a Quote |
| CEP295NL Knockout HCT 116 Cell Line | EDJ-KQ77807 | Human | 100653515 | Details Get a Quote |
