CEP170B
Centrosomal Protein 170B
Gene Information Card
| Symbol | CEP170B |
|---|---|
| Full Name | Centrosomal Protein 170B |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 283899 ncbi.nlm.nih.gov/gene/283899 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9H6S3 |
| OMIM ID | 617793 |
| HGNC ID | 28472 |
| Aliases | CEP170L, FAM82A2, C14orf133 |
Description
CEP170B encodes a centrosomal protein that localizes to the centrosome and is involved in microtubule organization and cell cycle progression. It is a paralog of CEP170 and plays a role in maintaining centrosome integrity and ciliary function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | CEP170B mutations disrupt centrosome and cilia formation, impairing mucociliary clearance | ClinVar, OMIM |
| Cancer (various) | Altered CEP170B expression may contribute to centrosome amplification and genomic instability | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Moderate expression |
| HeLa | 7.8 | Low expression |
| A549 | 6.5 | Low expression |
| K562 | 4.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function, associated with ciliopathy |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function, potential disease variant |
| c.890A>G (p.Gln297Arg) | Missense | 0.02% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein and loss of centrosomal function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Centrosome | • Microtubule organizing center |
| • Cell cycle | • Cilium assembly |
| • Protein binding |
Pathways
• Centrosome maturation
• Cilium assembly
• Cell cycle
Protein Summary
CEP170B is a 170 kDa centrosomal protein that localizes to the pericentriolar material. It interacts with microtubules and is essential for centrosome duplication and ciliogenesis. Loss-of-function mutations are linked to ciliary defects and potentially cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEP170B Knockout HEK293 Cell Line | EDJ-KQ12872 | Human | 283638 | Details Get a Quote |
| CEP170B Knockout A-549 Cell Line | EDJ-KQ42048 | Human | 283638 | Details Get a Quote |
| CEP170B Knockout HCT 116 Cell Line | EDJ-KQ42049 | Human | 283638 | Details Get a Quote |
| CEP170B Knockout HeLa Cell Line | EDJ-KQ40800 | Human | 283638 | Details Get a Quote |
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