PACRGL: Parkin Coregulated Gene Like
A gene encoding a protein with potential roles in cellular stress responses and mitochondrial function.
Gene Information Card
| Symbol | PACRGL |
|---|---|
| Full Name | Parkin Coregulated Gene Like |
| Gene Type | protein-coding |
| Chromosomal Location | 4q21.21 |
| NCBI Gene ID | 148137 ncbi.nlm.nih.gov/gene/148137 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q8N6T3 |
| OMIM ID | - |
| HGNC ID | 28759 |
| Aliases | C4orf21, FLJ13236 |
Description
PACRGL (Parkin Coregulated Gene Like) is a protein-coding gene located on chromosome 4q21.21. The encoded protein shares similarity with Parkin coregulated gene (PACRG) and is thought to be involved in cellular stress responses, mitochondrial function, and ciliary biology. Expression data suggest broad tissue distribution with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may influence tumor progression; limited direct evidence. | COSMIC; literature |
| Neurodegenerative disorders | Potential link via mitochondrial stress pathways; not yet validated in large cohorts. | Literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Heart | 5.1 | Low |
| Liver | 3.4 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | RNA-seq |
| HeLa | 7.8 | RNA-seq |
| K562 | 6.1 | RNA-seq |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215C>T (p.Pro72Leu) | missense | <0.01% | Unknown |
| c.487G>A (p.Gly163Arg) | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cytoplasm (GO:0005737) | • mitochondrion (GO:0005739) |
| • cilium (GO:0005929) | • protein binding (GO:0005515) |
Pathways
• Parkin-mediated mitophagy (indirect)
• Ciliary assembly
Protein Summary
The PACRGL protein (UniProt Q8N6T3) is a 267-amino acid polypeptide with no characterized domains. It is predicted to localize to the cytoplasm and mitochondria, and may interact with Parkin and other proteins involved in mitochondrial quality control. Its precise function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PACRGL Knockout HEK293 Cell Line | EDJ-KQ8542 | Human | 133015 | 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 |
