PELI2
Pellino E3 Ubiquitin Protein Ligase 2
Gene Information Card
| Symbol | PELI2 |
|---|---|
| Full Name | Pellino E3 Ubiquitin Protein Ligase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q21.3 |
| NCBI Gene ID | 57161 ncbi.nlm.nih.gov/gene/57161 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9HAT8 |
| OMIM ID | 614798 |
| HGNC ID | 8828 |
| Aliases | Pellino 2, Pellino homolog 2 |
Description
PELI2 encodes a member of the Pellino family of E3 ubiquitin ligases. The protein plays a key role in innate immune signaling by mediating the ubiquitination of IRAK1 and other components of the Toll-like receptor (TLR) and interleukin-1 receptor (IL-1R) pathways, thereby regulating NF-κB activation. PELI2 is involved in inflammatory responses and has been implicated in cancer and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered PELI2 expression may modulate NF-κB signaling, promoting tumorigenesis | COSMIC, PubMed |
| Inflammatory Bowel Disease | PELI2 variants associated with dysregulated immune response | ClinVar, PubMed |
| Gastric Cancer | Upregulation of PELI2 linked to enhanced cell proliferation via NF-κB | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 9.2 | Medium |
| Lung | 6.1 | Low |
| Colon | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.7 | Embryonic kidney, moderate expression |
| HeLa | 6.3 | Cervical cancer, low expression |
| THP-1 | 11.2 | Monocytic leukemia, high 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 functional impact; reported in ClinVar |
| c.1246G>A (p.Glu416Lys) | Missense | <0.1% | Reported in COSMIC; potential gain-of-function in cancer |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted loss-of-function variants may impair ubiquitin ligase activity and NF-κB signaling.
Gain of Function (GOF)
Rare missense mutations (e.g., p.Glu416Lys) may enhance IRAK1 ubiquitination and NF-κB activation.
Dominant Negative (DN)
No dominant-negative mutations reported for PELI2.
View complete mutation data：
Gene Ontology (GO)
| • E3 ubiquitin ligase activity | • protein ubiquitination |
| • innate immune response | • NF-κB signaling |
| • IRAK1 binding |
Pathways
• Toll-like receptor signaling pathway
• IL-1 receptor signaling pathway
• NF-κB signaling
• Ubiquitin-mediated proteolysis
Protein Summary
PELI2 is a 420-amino acid E3 ubiquitin ligase containing a RING-like domain. It interacts with IRAK1 and TRAF6 to promote K63-linked polyubiquitination, leading to activation of the IKK complex and NF-κB. The protein is predominantly expressed in immune tissues and is critical for inflammatory cytokine production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PELI2 Knockout HEK293 Cell Line | EDJ-KQ14728 | Human | 57161 | Details Get a Quote |
| PELI2 Knockout A-549 Cell Line | EDJ-KQ45068 | Human | 57161 | Details Get a Quote |
| PELI2 Knockout HeLa Cell Line | EDJ-KQ45069 | Human | 57161 | Details Get a Quote |
| PELI2 Knockout HCT 116 Cell Line | EDJ-KQ73763 | Human | 57161 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
