RELT (RELT TNF Receptor)
RELT (RELT TNF Receptor) is a protein-coding gene belonging to the tumor necrosis factor receptor superfamily, involved in immune signaling and apoptosis.
Gene Information Card
| Symbol | RELT |
|---|---|
| Full Name | RELT TNF receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 84957 ncbi.nlm.nih.gov/gene/84957 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q969Z4 |
| OMIM ID | 611209 |
| HGNC ID | 13764 |
| Aliases | FLJ14981, TNFRSF19L, MGC129935 |
Description
RELT (RELT TNF receptor) is a protein-coding gene located on chromosome 11q13.4. It encodes a member of the tumor necrosis factor receptor superfamily (TNFRSF). The protein is a type I transmembrane receptor involved in immune regulation, cell survival, and apoptosis. RELT is expressed predominantly in hematopoietic tissues and is implicated in immune responses and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lymphoma | RELT may modulate apoptosis and immune evasion in lymphoid malignancies. | COSMIC, ClinVar |
| Colorectal cancer | Altered RELT expression associated with tumor progression. | COSMIC |
| Breast cancer | RELT expression changes observed in breast cancer tissues. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 8.9 | Medium |
| Lung | 3.1 | Low |
| Colon | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.3 | Leukemia cell line |
| HEK 293 | 1.2 | Low expression |
| HeLa | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T | Missense | <0.1% | p.Arg163Trp; potential impact on receptor function |
| c.1022A>G | Missense | <0.1% | p.Asn341Ser; uncertain significance |
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 confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • tumor necrosis factor-activated receptor activity (GO:0005031) | • signal transduction (GO:0007165) |
| • apoptotic process (GO:0006915) | • plasma membrane (GO:0005886) |
Pathways
• TNF receptor signaling pathway (Reactome: R-HSA-5673001)
• Apoptosis (KEGG: hsa04210)
Protein Summary
The RELT protein (UniProt Q969Z4) is a 430-amino acid type I transmembrane receptor with an extracellular domain containing cysteine-rich repeats characteristic of the TNF receptor superfamily. It is involved in activating NF-kappaB and MAPK pathways, modulating immune cell survival and apoptosis. RELT is predominantly expressed in hematopoietic tissues and may play a role in tumor immunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RELT Knockout HEK293 Cell Line | EDJ-KQ10284 | Human | 84957 | Details Get a Quote |
| RELT Knockout A-549 Cell Line | EDJ-KQ37541 | Human | 84957 | Details Get a Quote |
| RELT Knockout HCT 116 Cell Line | EDJ-KQ37542 | Human | 84957 | Details Get a Quote |
| RELT Knockout HeLa Cell Line | EDJ-KQ37543 | Human | 84957 | Details Get a Quote |
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