PDZRN3
PDZ Domain Containing RING Finger 3
Gene Information Card
| Symbol | PDZRN3 |
|---|---|
| Full Name | PDZ domain containing RING finger 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p13 |
| NCBI Gene ID | 23024 ncbi.nlm.nih.gov/gene/23024 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q9H0M0 |
| OMIM ID | 617657 |
| HGNC ID | 26239 |
| Aliases | KIAA1095, LNX3, PDZK4, SEMACAP3 |
Description
PDZRN3 (PDZ domain containing RING finger 3) is a protein-coding gene that encodes a member of the LNX (ligand of Numb protein X) family. The protein contains a RING-type zinc finger domain, which is characteristic of E3 ubiquitin ligases, and multiple PDZ domains that mediate protein-protein interactions. PDZRN3 is involved in ubiquitination and proteasomal degradation of target proteins, playing roles in cell signaling, neuronal development, and muscle differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | PDZRN3 may act as a tumor suppressor or oncogene depending on context; altered expression linked to tumorigenesis | COSMIC; literature |
| Neurodevelopmental disorders | Potential role in neuronal differentiation and synapse formation; mutations may contribute to autism spectrum disorders | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Skeletal Muscle | 15.2 | Medium |
| Testis | 20.1 | High |
| Kidney | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | Embryonic kidney cells |
| SH-SY5Y | 22.1 | Neuroblastoma cells |
| HeLa | 9.8 | Cervical cancer cells |
| HepG2 | 5.3 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Arg412Cys; potential loss of function |
| c.567_568insA | Frameshift | 0.01% | p.Glu190Argfs*12; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, disrupting E3 ligase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein binding |
| • zinc ion binding | • PDZ domain binding |
| • ubiquitin ligase complex | • cytoplasm |
| • nucleus | • synapse |
Pathways
• Ubiquitin mediated proteolysis
• Notch signaling pathway
• Wnt signaling pathway
Protein Summary
The PDZRN3 protein is a 1047-amino acid E3 ubiquitin ligase containing a RING finger domain and four PDZ domains. It localizes to the cytoplasm and nucleus, and is involved in the ubiquitination of target proteins such as NUMB and PTPN14, thereby regulating cell fate decisions, neuronal differentiation, and muscle development. The protein is highly expressed in testis, brain, and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDZRN3 Knockout HEK293 Cell Line | EDJ-KQ7778 | Human | 23024 | Details Get a Quote |
| PDZRN3 Knockout HeLa Cell Line | EDJ-KQ55675 | Human | 23024 | Details Get a Quote |
| PDZRN3 Knockout A-549 Cell Line | EDJ-KQ64173 | Human | 23024 | Details Get a Quote |
| PDZRN3 Knockout HCT 116 Cell Line | EDJ-KQ72616 | Human | 23024 | Details Get a Quote |
