LAT2 - linker for activation of T cells family member 2 Gene
Also Known as LAB; NTAL; WSCR5; WBSCR5; HSPC046; WBSCR15
Species: Homo sapiens
About LAT2
This gene has 11 transcripts (splice variants) and 79 orthologues. Broad expression in lymph node (RPKM 22.9), appendix (RPKM 20.3) and 16 other tissues.
Summary
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]
LAT2 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_014146.4 | NP_054865.2 | linker for activation of T-cells family member 2 precursor |
| NM_032463.3 | NP_115852.1 | linker for activation of T-cells family member 2 precursor |
| NM_032464.3 | NP_115853.2 | linker for activation of T-cells family member 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables SH2 domain binding |
IMP
IMP: Inferred from mutant phenotype
|
14722116 | GOA |
| enables SH2 domain binding |
IPI
IPI: Inferred from physical interaction
|
20442417 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
14722116 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in B cell activation |
IDA
IDA: Inferred from direct assay
|
12514734 | GOA |
| involved in B cell receptor signaling pathway |
IDA
IDA: Inferred from direct assay
|
12514734 | GOA |
| involved in calcium-mediated signaling |
IGI
IGI: Inferred from genetic interaction
|
14722116 | GOA |
| involved in intracellular signal transduction |
IGI
IGI: Inferred from genetic interaction
|
14722116 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in membrane raft |
IDA
IDA: Inferred from direct assay
|
12486104 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
linker for activation of T-cells family member 2 |
|
Recombinant LAT2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71173 | NTAL Protein, Human (HEK293, His) | Q9GZY6 (R27-A243) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Williams-Beuren Syndrome |
|
|
| Hernia, Hiatus |
|
|
| Peptic Esophagitis |
|
|
| Bile Reflux |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | LAT2 | VGNC | VGNC:74040 |
| Mus musculus | LAT2 | MGD | MGI:1926479 |
| Felis catus | LAT2 | VGNC | VGNC:63200 |
| Rattus norvegicus | LAT2 | RGD | RGD:631397 |
| Canis familiaris | LAT2 | VGNC | VGNC:42597 |
| Bos taurus | LAT2 | VGNC | VGNC:30799 |
| Others | LAT2 | NCBI |