RELL2 Gene - RELT-Like 2
Comprehensive genomic and functional overview of RELL2, a member of the TNF receptor superfamily modulator family.
Gene Information Card
| Symbol | RELL2 |
|---|---|
| Full Name | RELT-Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 285096 ncbi.nlm.nih.gov/gene/285096 |
| Ensembl ID | ENSG00000164305 |
| UniProt ID | Q8N7M0 |
| OMIM ID | 611206 |
| HGNC ID | 30426 |
| Aliases | RELT-like 2, FLJ44313 |
Description
RELL2 (RELT-Like 2) is a protein-coding gene located on chromosome 5q31.2. It encodes a member of the tumor necrosis factor receptor (TNFR) superfamily modulator family. RELL2 is involved in the regulation of immune responses and cell survival signaling, particularly through interaction with RELT (RELT-like protein). The gene is expressed in various tissues and has been implicated in cancer and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | RELL2 expression is altered, potentially affecting TNF receptor signaling and apoptosis | NCBI Gene, COSMIC |
| Breast Cancer | Mutations and expression changes observed; may influence tumor microenvironment | COSMIC, ClinVar |
| Inflammatory Disorders | Modulation of NF-kB pathway via RELT interaction | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Testis | 6.7 | Low |
| Kidney | 5.1 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in recombinant systems |
| HeLa | 7.8 | Moderate expression |
| A549 | 4.5 | Low expression |
| MCF7 | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116His) | Missense | 0.02% | Unknown functional impact |
| c.523C>T (p.Arg175Trp) | Missense | 0.01% | Reported in COSMIC for colorectal cancer |
| c.789_790insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.789_790insA) likely result in truncated protein and loss of function.
Gain of Function (GOF)
No gain-of-function mutations currently documented in ClinVar or COSMIC.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TNF receptor signaling pathway (Reactome: R-HSA-5668541)
• NF-kappa B signaling pathway (KEGG: hsa04064)
Protein Summary
RELL2 is a 248-amino acid protein with a single transmembrane domain and a cytoplasmic tail that interacts with RELT. It functions as a modulator of TNF receptor signaling, influencing NF-kB activation and apoptosis. The protein is localized to the plasma membrane and is expressed in immune and epithelial tissues. Structural predictions suggest a role in receptor complex assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RELL2 Knockout HEK293 Cell Line | EDJ-KQ15032 | Human | 285613 | Details Get a Quote |
| RELL2 Knockout HCT 116 Cell Line | EDJ-KQ44315 | Human | 285613 | Details Get a Quote |
| RELL2 Knockout A-549 Cell Line | EDJ-KQ45569 | Human | 285613 | Details Get a Quote |
| RELL2 Knockout HeLa Cell Line | EDJ-KQ45570 | Human | 285613 | Details Get a Quote |
