LAT2 Gene Summary [Human]
This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | LAT2 |
| Official Name | linker for activation of T cells family member 2 [Source:HGNC Symbol;Acc:HGNC:12749] |
| Ensembl ID | ENSG00000086730 |
| Bio databases IDs | |
| Aliases | linker for activation of T cells family member 2, linker for activation of B cells, non-T cell activation linker, linker for activation of T cells, transmembrane adaptor 2 |
| Synonyms | HSPC046, LAB, linker for activation of T cells family member 2, linker for activation of T cells family, member 2, Linker for B-cell Activation, NTAL, WBSCR15, WBSCR5, WSCR5 |
| 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 LAT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Linker for activation of T-cells family member 2
- SH2-domain binding
- protein binding
Pathways
Biological processes and signaling networks where the LAT2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- systemic lupus erythematosus
- hyperplasia
- androgenic alopecia
- laser induced choroidal neovascularization
- myasthenia gravis
- Moyamoya disease
- visceromegaly
- complete testicular feminization syndrome
role in cell
- signaling in
- proliferation
- morphology
- activation in
- survival
- formation
- production in
- phosphorylation in
- binding in
- tyrosine phosphorylation in
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
- raft fractions
- membrane fraction
- Cytoplasm
- cellular membrane
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LAT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- adaptive immune response
- B cell activation
- mast cell degranulation
- calcium-mediated signaling
- intracellular signal transduction
- B cell receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- membrane raft
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- SH2 domain binding