BTLA Gene Summary [Human]
This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | BTLA |
| Official Name | B and T lymphocyte associated [Source:HGNC Symbol;Acc:HGNC:21087] |
| Ensembl ID | ENSG00000186265 |
| Bio databases IDs | |
| Aliases | B and T lymphocyte associated |
| Synonyms | A630002H24, B and T lymphocyte associated, BTLA1, CD272 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BTLA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- signaling receptor activity
- immunoreceptor tyrosine-based inhibition motif
- immunoglobulin domain
- Immunoglobulin like
- protein binding
- cytosolic tail domain
- Immunoglobulin V-set domain
- immunoreceptor tyrosine switch motif
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- experimental autoimmune encephalomyelitis
- experimentally induced inflammation
- dermatitis
- cutaneous melanoma
- cutaneous melanoma cancer
- experimental hepatitis
- endotoxin shock response
- diabetes mellitus
role in cell
- production in
- activation
- proliferation
- expression in
- quantity
- accumulation in
- survival
- maturation
- function
- recruitment
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell surface
- cellular membrane
- plasma membrane extracellular face
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BTLA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- immune response-regulating cell surface receptor signaling pathway
- adaptive immune response
Cellular Component
Where in the cell the gene product is active
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- signaling receptor activity