PJA2: Praja Ring Finger Ubiquitin Ligase 2
Comprehensive genomic and proteomic overview of PJA2, a RING finger E3 ubiquitin ligase involved in protein degradation and signaling.
Gene Information Card
| Symbol | PJA2 |
|---|---|
| Full Name | Praja Ring Finger Ubiquitin Ligase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q21.1 |
| NCBI Gene ID | 9867 ncbi.nlm.nih.gov/gene/9867 |
| Ensembl ID | ENSG00000113520 |
| UniProt ID | O43164 |
| OMIM ID | 610224 |
| HGNC ID | HGNC:9013 |
| Aliases | Praja2, RNF131, KIAA0438 |
Description
PJA2 (Praja Ring Finger Ubiquitin Ligase 2) encodes a RING finger domain-containing E3 ubiquitin ligase. The protein mediates ubiquitination and subsequent proteasomal degradation of target proteins, playing roles in cell cycle regulation, signal transduction, and neuronal development. Alternative splicing generates multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of ubiquitin-mediated degradation of tumor suppressors or oncogenes | COSMIC: mutations and copy number alterations observed in multiple cancer types |
| Neurodevelopmental disorders | Potential role in ubiquitination of synaptic proteins; variants reported in ClinVar | ClinVar: uncertain significance variants in individuals with developmental delay |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Lung | 8.5 | Low |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | Embryonic kidney; high expression |
| HeLa | 14.7 | Cervical carcinoma; moderate expression |
| K562 | 9.2 | Leukemia; low expression |
| HepG2 | 7.8 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.1% | Unknown; reported in ClinVar as uncertain significance |
| c.1243G>A (p.Glu415Lys) | Missense | <0.1% | Unknown; reported in COSMIC in colorectal cancer |
| c.1576_1577insA (p.Thr526AsnfsTer2) | Frameshift | <0.1% | Predicted loss of function; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the RING domain, impairing ubiquitin ligase activity.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
PJA2 is a 748-amino acid RING finger E3 ubiquitin ligase. It contains a RING-H2 domain (residues 580-620) essential for ubiquitin transfer. The protein localizes to both cytoplasm and nucleus, and ubiquitinates substrates such as DVL2 and TRAF6, modulating Wnt and NF-kB signaling pathways. Post-translational modifications include phosphorylation and ubiquitination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PJA2 Knockout HEK293 Cell Line | EDJ-KQ6792 | Human | 9867 | Details Get a Quote |
| PJA2 Knockout A-549 Cell Line | EDJ-KQ31270 | Human | 9867 | Details Get a Quote |
| PJA2 Knockout HCT 116 Cell Line | EDJ-KQ31271 | Human | 9867 | Details Get a Quote |
| PJA2 Knockout HeLa Cell Line | EDJ-KQ31272 | Human | 9867 | Details Get a Quote |
