POC5
Centriolar protein involved in ciliogenesis and skeletal development
Gene Information Card
| Symbol | POC5 |
|---|---|
| Full Name | POC5 centriolar protein |
| Gene Type | protein-coding |
| Chromosomal Location | 5q13.3 |
| NCBI Gene ID | 79959 ncbi.nlm.nih.gov/gene/79959 |
| Ensembl ID | ENSG00000152359 |
| UniProt ID | Q8NA72 |
| OMIM ID | 618889 |
| HGNC ID | 26259 |
| Aliases | FLJ12649, MGC138499, MGC138500 |
Description
POC5 encodes a centriolar protein essential for centriole duplication and ciliogenesis. It localizes to the centriole lumen and is required for proper formation of primary cilia. Mutations in POC5 have been associated with adolescent idiopathic scoliosis and other skeletal abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Adolescent idiopathic scoliosis | Missense mutations impair centriole function and cilia-mediated signaling, leading to spinal curvature | PMID: 29961567 |
| Skeletal dysplasia | Loss-of-function variants disrupt ciliogenesis, affecting bone development | PMID: 29961567 |
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 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cell line |
| HeLa | 7.5 | Cervical cancer cell line |
| U2OS | 6.8 | Osteosarcoma cell line |
| HepG2 | 4.1 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1019C>T (p.Thr340Met) | Missense | Rare | Impaired centriole duplication |
| c.1243G>A (p.Gly415Arg) | Missense | Rare | Disrupted ciliogenesis |
| c.1462C>T (p.Arg488Trp) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reduce centriole duplication efficiency and cilia formation.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Heterozygous mutations may exert dominant-negative effects on centriole assembly.
View complete mutation data：
Gene Ontology (GO)
| • centriole (GO:0005813) | • cilium (GO:0005929) |
| • cilium assembly (GO:0060271) | • centriole replication (GO:0007099) |
| • protein binding (GO:0005515) |
Pathways
• Cilium assembly (Reactome: R-HSA-5620912)
• Centriole duplication (Reactome: R-HSA-380259)
Protein Summary
POC5 is a 648-amino-acid centriolar protein containing multiple coiled-coil domains. It localizes to the centriole lumen and interacts with other centriole components to regulate centriole length and duplication. The protein is highly conserved in vertebrates and is essential for primary cilium formation, which mediates key signaling pathways during development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POC5 Knockout HEK293 Cell Line | EDJ-KQ9338 | Human | 134359 | Details Get a Quote |
| POC5 Knockout A-549 Cell Line | EDJ-KQ35969 | Human | 134359 | Details Get a Quote |
| POC5 Knockout HeLa Cell Line | EDJ-KQ35971 | Human | 134359 | Details Get a Quote |
| POC5 Knockout HCT 116 Cell Line | EDJ-KQ34729 | Human | 134359 | Details Get a Quote |
