PACRG Gene - Parkin Coregulated Gene
A gene involved in ciliary function, spermatogenesis, and potential tumor suppression, linked to Parkinson's disease and cancer.
Gene Information Card
| Symbol | PACRG |
|---|---|
| Full Name | Parkin Coregulated Gene |
| Gene Type | Protein coding |
| Chromosomal Location | 6q26 |
| NCBI Gene ID | 135138 ncbi.nlm.nih.gov/gene/135138 |
| Ensembl ID | ENSG00000112531 |
| UniProt ID | Q96M98 |
| OMIM ID | 608427 |
| HGNC ID | 20799 |
| Aliases | GLUP, PARK2CR, RP33, C6orf37, FKSG16, HAK005771 |
Description
PACRG (Parkin Coregulated Gene) encodes a protein that shares a bidirectional promoter with the parkin gene (PRKN). It is involved in ciliary assembly, spermatogenesis, and microtubule dynamics. The gene is widely expressed, with highest levels in testis and ciliated tissues. PACRG has been implicated in Parkinson's disease susceptibility and various cancers, where it may act as a tumor suppressor.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease | Shared bidirectional promoter with PRKN; altered expression may affect parkin regulation and mitochondrial quality control. | OMIM 608427; NCBI Gene |
| Spermatogenic failure | Required for flagellar and ciliary assembly; mutations or dysregulation impair sperm motility. | UniProt Q96M98; OMIM 608427 |
| Cancer (multiple types) | Downregulated in tumors; potential tumor suppressor via regulation of cell cycle and apoptosis. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Brain (cerebellum) | 12.1 | Medium |
| Lung | 8.5 | Medium |
| Kidney | 6.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Cervical cancer; moderate expression |
| A549 | 10.2 | Lung cancer; moderate expression |
| HEK293 | 8.7 | Embryonic kidney; low-moderate expression |
| K562 | 3.1 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.214C>T (p.Arg72Trp) | Missense | 0.02% | May affect protein stability; reported in cancer samples |
| c.487_489del (p.Lys163del) | In-frame deletion | <0.01% | Alters ciliary protein interaction; associated with spermatogenic failure |
Mutation functional classification
Loss of Function (LOF)
Missense or truncating variants that disrupt ciliary assembly or protein stability, leading to impaired spermatogenesis or increased cancer risk.
Gain of Function (GOF)
Not well documented; no known activating mutations reported.
Dominant Negative (DN)
Not established; potential if mutant protein interferes with wild-type PACRG in ciliary complexes.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • cilium (GO:0005929) |
| • cell projection organization (GO:0030030) | • spermatid development (GO:0007286) |
| • protein binding (GO:0005515) |
Pathways
• Ciliary assembly and transport
• Spermatogenesis
• Parkin-mediated mitophagy (indirect)
Protein Summary
The PACRG protein is a 244-amino acid polypeptide localized to centrosomes and cilia. It interacts with parkin and is essential for ciliogenesis and flagellar motility. The protein contains coiled-coil domains that mediate protein-protein interactions. Its expression is regulated by a bidirectional promoter shared with PRKN, linking it to mitochondrial and proteasomal pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PACRGL Knockout HEK293 Cell Line | EDJ-KQ8542 | Human | 133015 | Details Get a Quote |
| PACRG Knockout HEK293 Cell Line | EDJ-KQ9355 | Human | 135138 | Details Get a Quote |
| PACRGL Knockout A-549 Cell Line | EDJ-KQ35929 | Human | 133015 | Details Get a Quote |
| PACRGL Knockout HCT 116 Cell Line | EDJ-KQ35931 | Human | 133015 | Details Get a Quote |
| PACRGL Knockout HeLa Cell Line | EDJ-KQ35932 | Human | 133015 | Details Get a Quote |
| PACRG Knockout HeLa Cell Line | EDJ-KQ58347 | Human | 135138 | Details Get a Quote |
| PACRG Knockout A-549 Cell Line | EDJ-KQ66836 | Human | 135138 | Details Get a Quote |
| PACRG Knockout HCT 116 Cell Line | EDJ-KQ75239 | Human | 135138 | Details Get a Quote |
