BTNL3 Gene - Butyrophilin Like 3
A member of the butyrophilin family involved in immune regulation and potential cancer association.
Gene Information Card
| Symbol | BTNL3 |
|---|---|
| Full Name | Butyrophilin Like 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 10907 ncbi.nlm.nih.gov/gene/10907 |
| Ensembl ID | ENSG00000164327 |
| UniProt ID | Q6UXE8 |
| OMIM ID | 606220 |
| HGNC ID | 1142 |
| Aliases | BTN3.3, BTNL3, butyrophilin-like 3 |
Description
BTNL3 (Butyrophilin Like 3) is a protein-coding gene belonging to the butyrophilin family, which is part of the immunoglobulin superfamily. The encoded protein is a transmembrane glycoprotein with extracellular immunoglobulin-like domains, involved in immune modulation, particularly in T-cell regulation. BTNL3 is expressed in various tissues and has been implicated in cancer and immune-related conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect immune surveillance; specific mechanism not fully elucidated | Limited evidence from expression studies and COSMIC mutation data |
| Inflammatory conditions | Potential role in T-cell regulation via butyrophilin family signaling | Inferred from family function; direct evidence lacking |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | Medium |
| Colon | 8.2 | Low |
| Spleen | 6.1 | Low |
| Lung | 4.3 | Low |
| Breast | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in engineered lines |
| K562 | 0.5 | Low expression |
| HeLa | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | 0.01% | Unknown functional impact |
| c.250C>T (p.Arg84Trp) | Missense | 0.005% | Reported in COSMIC; no known pathogenicity |
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 evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • external side of plasma membrane (GO:0009897) |
| • protein binding (GO:0005515) | • signal transduction (GO:0007165) |
Pathways
• Butyrophilin family signaling pathway (inferred)
Protein Summary
The BTNL3 protein is a type I transmembrane glycoprotein with two extracellular immunoglobulin-like domains (IgV and IgC). It is involved in immune regulation, potentially modulating T-cell responses. The protein is expressed in lymphoid tissues and epithelial cells, and its function may be relevant to cancer immune evasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BTNL3 Knockout HEK293 Cell Line | EDJ-KQ7212 | Human | 10917 | Details Get a Quote |
| BTNL3 Knockout HeLa Cell Line | EDJ-KQ55526 | Human | 10917 | Details Get a Quote |
| BTNL3 Knockout A-549 Cell Line | EDJ-KQ64016 | Human | 10917 | Details Get a Quote |
| BTNL3 Knockout HCT 116 Cell Line | EDJ-KQ72467 | Human | 10917 | Details Get a Quote |
