BTLA Gene (B and T Lymphocyte Associated)
Immune checkpoint receptor gene with roles in cancer and autoimmune disease
Gene Information Card
| Symbol | BTLA |
|---|---|
| Full Name | B and T lymphocyte associated |
| Gene Type | protein-coding |
| Chromosomal Location | 3q13.2 |
| NCBI Gene ID | 151888 ncbi.nlm.nih.gov/gene/151888 |
| Ensembl ID | ENSG00000186265 |
| UniProt ID | Q7Z6A9 |
| OMIM ID | 607929 |
| HGNC ID | 1142 |
| Aliases | CD272, BTLA1 |
Description
BTLA (B and T lymphocyte associated) encodes a member of the immunoglobulin superfamily. The protein is an immune checkpoint receptor expressed on activated T and B cells, as well as other immune cells. It binds to the ligand HVEM (TNFRSF14) and delivers inhibitory signals that modulate lymphocyte activation and homeostasis. BTLA plays a critical role in regulating immune responses and is implicated in cancer, autoimmune diseases, and transplant rejection.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diffuse large B-cell lymphoma | BTLA expression on tumor cells may inhibit anti-tumor T cell responses | PMID: 23233788 |
| Systemic lupus erythematosus | Polymorphisms in BTLA associated with altered immune regulation | PMID: 19838197 |
| Rheumatoid arthritis | Reduced BTLA expression on T cells correlates with disease activity | PMID: 21575862 |
| Graft-versus-host disease | BTLA signaling modulates alloreactive T cell responses | PMID: 20628145 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 6.2 | Low |
| Thymus | 8.9 | Medium |
| Blood | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T cell leukemia) | 15.2 | High expression |
| Raji (Burkitt lymphoma) | 9.8 | Medium expression |
| K562 (chronic myeloid leukemia) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.590C>T (p.Thr197Ile) | missense | <0.01% | Unknown functional effect |
| c.1A>G (p.Met1Val) | start loss | <0.01% | Likely loss of function |
| c.832_834del (p.Lys278del) | in-frame deletion | <0.01% | Altered ligand binding |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) likely abolish protein expression.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Immune checkpoint signaling (BTLA-HVEM pathway)
• T cell receptor signaling pathway
Protein Summary
BTLA is a type I transmembrane glycoprotein of 289 amino acids. It contains an extracellular Ig-like V-type domain, a transmembrane region, and a cytoplasmic tail with two immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Upon binding HVEM, BTLA recruits phosphatases SHP-1 and SHP-2, leading to attenuation of T cell receptor signaling and inhibition of lymphocyte activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BTLA Knockout HEK293 Cell Line | EDJ-KQ17732 | Human | 151888 | Details Get a Quote |
| BTLA Knockout HeLa Cell Line | EDJ-KQ58697 | Human | 151888 | Details Get a Quote |
| BTLA Knockout A-549 Cell Line | EDJ-KQ67181 | Human | 151888 | Details Get a Quote |
| BTLA Knockout HCT 116 Cell Line | EDJ-KQ75584 | Human | 151888 | Details Get a Quote |
