LAT2

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Linker for activation of T cells family, member 2
Identifiers
Symbols LAT2; LAB; NTAL; WBSCR15; WBSCR5; WSCR5
External IDs OMIM605719 MGI1926479 HomoloGene11297 GeneCards: LAT2 Gene
RNA expression pattern
PBB GE LAT2 221581 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 7462 56743
Ensembl ENSG00000086730 ENSMUSG00000040751
UniProt Q9GZY6 Q9JHL0
RefSeq (mRNA) NM_014146.3 NM_020044
RefSeq (protein) NP_054865.2 NP_064428
Location (UCSC) Chr 7:
73.61 – 73.64 Mb
Chr 5:
135.08 – 135.09 Mb
PubMed search [1] [2]

Linker for activation of T-cells family member 2 is a protein that in humans is encoded by the LAT2 gene.[1][2][3]

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.[3]

[edit] References

  1. ^ Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HH, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC (Jan 1997). "Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients". Genomics 36 (2): 328–36. doi:10.1006/geno.1996.0469. PMID 8812460. 
  2. ^ Janssen E, Zhu M, Zhang W, Koonpaew S, Zhang W (Jan 2003). "LAB: a new membrane-associated adaptor molecule in B cell activation". Nat Immunol 4 (2): 117–23. doi:10.1038/ni882. PMID 12514734. 
  3. ^ a b "Entrez Gene: LAT2 linker for activation of T cells family, member 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7462. 

[edit] Further reading



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