LAT2
From Wikipedia, the free encyclopedia
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Linker for activation of T cells family, member 2
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| Identifiers | ||||||||||||||
| Symbol(s) | LAT2; HSPC046; LAB; NTAL; WBSCR15; WBSCR5; WSCR5 | |||||||||||||
| External IDs | OMIM: 605719 MGI: 1926479 HomoloGene: 11297 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 7462 | 56743 | ||||||||||||
| Ensembl | ENSG00000086730 | ENSMUSG00000040751 | ||||||||||||
| Uniprot | Q9GZY6 | Q9JHL0 | ||||||||||||
| Refseq | NM_022040 (mRNA) NP_071323 (protein) |
NM_020044 (mRNA) NP_064428 (protein) |
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| Location | Chr 7: 73.26 - 73.28 Mb | Chr 5: 134.88 - 134.9 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Linker for activation of T cells family, member 2, also known as LAT2, is a human gene.[1]
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.[1]
[edit] References
[edit] Further reading
- Rivera J (2005). "NTAL/LAB and LAT: a balancing act in mast-cell activation and function.". Trends Immunol. 26 (3): 119–22. doi:. PMID 15745852.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298.
- Pérez Jurado LA, Peoples R, Kaplan P, et al. (1996). "Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.". Am. J. Hum. Genet. 59 (4): 781–92. PMID 8808592.
- Osborne LR, Martindale D, Scherer SW, et al. (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:. PMID 8812460.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149.
- Martindale DW, Wilson MD, Wang D, et al. (2000). "Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23.". Mamm. Genome 11 (10): 890–8. PMID 11003705.
- Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.". Genome Res. 10 (10): 1546–60. PMID 11042152.
- Doyle JL, DeSilva U, Miller W, Green ED (2001). "Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome.". Cytogenet. Cell Genet. 90 (3-4): 285–90. PMID 11124535.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:. PMID 12477932.
- Brdicka T, Imrich M, Angelisová P, et al. (2003). "Non-T cell activation linker (NTAL): a transmembrane adaptor protein involved in immunoreceptor signaling.". J. Exp. Med. 196 (12): 1617–26. PMID 12486104.
- Janssen E, Zhu M, Zhang W, et al. (2003). "LAB: a new membrane-associated adaptor molecule in B cell activation.". Nat. Immunol. 4 (2): 117–23. doi:. PMID 12514734.
- Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:. PMID 12853948.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:. PMID 14702039.
- Koonpaew S, Janssen E, Zhu M, Zhang W (2004). "The importance of three membrane-distal tyrosines in the adaptor protein NTAL/LAB.". J. Biol. Chem. 279 (12): 11229–35. doi:. PMID 14722116.
- Tkaczyk C, Horejsi V, Iwaki S, et al. (2004). "NTAL phosphorylation is a pivotal link between the signaling cascades leading to human mast cell degranulation following Kit activation and Fc epsilon RI aggregation.". Blood 104 (1): 207–14. doi:. PMID 15010370.
- Janssen E, Zhu M, Craven B, Zhang W (2004). "Linker for activation of B cells: a functional equivalent of a mutant linker for activation of T cells deficient in phospholipase C-gamma1 binding.". J. Immunol. 172 (11): 6810–9. PMID 15153499.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:. PMID 15489334.
- Tedoldi S, Paterson JC, Hansmann ML, et al. (2006). "Transmembrane adaptor molecules: a new category of lymphoid-cell markers.". Blood 107 (1): 213–21. doi:. PMID 16160011.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:. PMID 16189514.

