PCNT: Pericentrin Gene – Centrosomal Protein in Microcephalic Osteodysplastic Primordial Dwarfism
Comprehensive biomedical SEO content for the PCNT gene, encoding pericentrin, a key centrosomal scaffold protein.
Gene Information Card
| Symbol | PCNT |
|---|---|
| Full Name | Pericentrin |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 5116 ncbi.nlm.nih.gov/gene/5116 |
| Ensembl ID | ENSG00000160218 |
| UniProt ID | O95613 |
| OMIM ID | 605925 |
| HGNC ID | 8736 |
| Aliases | KEND, PCNT2, PCN, SCKL4, MOPD2 |
Description
The PCNT gene encodes pericentrin, a large coiled-coil protein that serves as a scaffold for the centrosome, anchoring microtubule nucleation complexes and regulating cell division. Mutations in PCNT cause microcephalic osteodysplastic primordial dwarfism type II (MOPD2) and Seckel syndrome, characterized by severe growth retardation, microcephaly, and skeletal abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephalic osteodysplastic primordial dwarfism type II (MOPD2) | Loss-of-function mutations in PCNT disrupt centrosome integrity, impairing mitotic spindle organization and cell proliferation, leading to severe growth deficits. | ClinVar, OMIM |
| Seckel syndrome 4 (SCKL4) | Biallelic PCNT mutations cause defective centrosome function, resulting in reduced cell division and microcephaly. | OMIM, NCBI |
| Primary microcephaly | PCNT mutations impair neurogenesis by disrupting centrosome duplication and mitotic fidelity. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 15.2 | Medium |
| Brain | 10.8 | Medium |
| Lung | 7.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.0 | High expression in cervical cancer cell line |
| HEK293 | 18.5 | High expression in embryonic kidney cells |
| K562 | 12.3 | Medium expression in leukemia cell line |
| HepG2 | 9.8 | Medium expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2440C>T (p.Arg814*) | Nonsense | Rare | Premature stop, loss of function |
| c.6478delC (p.Leu2160Trpfs*5) | Frameshift | Rare | Truncated protein, loss of function |
| c.10333C>T (p.Arg3445*) | Nonsense | Rare | Loss of function, associated with MOPD2 |
Mutation functional classification
Loss of Function (LOF)
Most PCNT mutations are loss-of-function, leading to truncated or absent pericentrin, disrupting centrosome assembly and mitotic progression.
Gain of Function (GOF)
No gain-of-function mutations reported for PCNT.
Dominant Negative (DN)
No dominant-negative mutations reported; PCNT-associated disorders are autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Centrosome | • Microtubule organizing center |
| • Centrosome cycle | • Mitotic spindle organization |
| • Protein binding | • Microtubule binding |
Pathways
• Centrosome maturation
• Microtubule nucleation
• Cell cycle
• mitotic
Protein Summary
Pericentrin is a large (360 kDa) coiled-coil protein localized to the centrosome, where it anchors gamma-tubulin ring complexes and pericentriolar material. It is essential for microtubule nucleation, centrosome duplication, and spindle assembly during mitosis. Defects in pericentrin cause severe growth disorders due to impaired cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCNT Knockout HEK293 Cell Line | EDJ-KQ50503 | Human | 5116 | Details Get a Quote |
| PCNT Knockout HeLa Cell Line | EDJ-KQ54093 | Human | 5116 | Details Get a Quote |
| PCNT Knockout A-549 Cell Line | EDJ-KQ62581 | Human | 5116 | Details Get a Quote |
| PCNT Knockout HCT 116 Cell Line | EDJ-KQ71050 | Human | 5116 | Details Get a Quote |
