BTN2A1 Gene Summary [Human]
This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | BTN2A1 |
| Official Name | butyrophilin subfamily 2 member A1 [Source:HGNC Symbol;Acc:HGNC:1136] |
| Ensembl ID | ENSG00000112763 |
| Bio databases IDs | |
| Aliases | butyrophilin subfamily 2 member A1 |
| Synonyms | BK14H9.1, BT2.1, BTF1, butyrophilin subfamily 2 member A1, DJ3E1.1 |
| Species | Human, Homo sapiens |
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 BTN2A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- SPRY domain
- high-mannose moiety
- Immunoglobulin V-Type
- immunoglobulin domain
- Immunoglobulin like
- protein binding
- associated with SPRY domains
- SPRY-associated domain
- Immunoglobulin V-set domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast carcinoma
- chronic obstructive pulmonary disease
- inguinal hernia
- pervasive developmental disorder
- tropical spastic paraparesis
- post-traumatic stress disorder
- estrogen receptor positive breast cancer
- neuroticism
- insulin-dependent diabetes mellitus
- inflammatory bowel disease
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BTN2A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid metabolic process
- regulation of cytokine production
- T cell receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- external side of plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- receptor binding