PRRC2C
Proline Rich Coiled-Coil 2C
Gene Information Card
| Symbol | PRRC2C |
|---|---|
| Full Name | Proline Rich Coiled-Coil 2C |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.3 |
| NCBI Gene ID | 23215 ncbi.nlm.nih.gov/gene/23215 |
| Ensembl ID | ENSG00000134262 |
| UniProt ID | Q9Y520 |
| OMIM ID | 618203 |
| HGNC ID | 25225 |
| Aliases | BAT2-iso, BAT2L, KIAA0329, MGC117188 |
Description
PRRC2C (Proline Rich Coiled-Coil 2C) is a protein-coding gene located on chromosome 1q24.3. It encodes a protein containing proline-rich regions and coiled-coil domains, which are often involved in protein-protein interactions and cellular signaling. The gene is widely expressed in various tissues and has been implicated in RNA processing and regulation of gene expression. PRRC2C is also known as BAT2-iso and BAT2L, and its orthologs are found in many eukaryotic species.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may contribute to tumorigenesis through dysregulation of RNA metabolism | COSMIC database reports somatic mutations in multiple cancer types |
| Neurodevelopmental disorders | Potential role in neuronal RNA processing; rare variants reported in patients with intellectual disability | ClinVar and literature (limited evidence) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Brain | 15.8 | Medium |
| Lung | 12.1 | Medium |
| Liver | 10.5 | Medium |
| Heart | 9.2 | Medium |
| Kidney | 8.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression |
| HeLa | 14.2 | Moderate expression |
| K562 | 11.0 | Moderate expression |
| HepG2 | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.5678A>G (p.Gln1893Arg) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • protein binding |
| • cytoplasm | • nucleus |
| • regulation of gene expression |
Pathways
• RNA processing
• mRNA surveillance pathway
Protein Summary
The PRRC2C protein is a proline-rich coiled-coil protein of 2,045 amino acids (UniProt Q9Y520). It localizes to both the cytoplasm and nucleus and is involved in RNA binding and processing. The protein contains multiple coiled-coil domains that facilitate interactions with other proteins, potentially playing a role in post-transcriptional regulation. Its exact molecular function remains under investigation, but it is thought to contribute to cellular homeostasis and may be dysregulated in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRRC2C Knockout HEK293 Cell Line | EDJ-KQ7886 | Human | 23215 | Details Get a Quote |
| PRRC2C Knockout HCT 116 Cell Line | EDJ-KQ32150 | Human | 23215 | Details Get a Quote |
| PRRC2C Knockout A-549 Cell Line | EDJ-KQ33481 | Human | 23215 | Details Get a Quote |
| PRRC2C Knockout HeLa Cell Line | EDJ-KQ33482 | Human | 23215 | Details Get a Quote |
