LAT2
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Protein-coding gene in the species Homo sapiens
| LAT2 | |||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | LAT2 , LAB, NTAL, WBSCR15, WBSCR5, WSCR5, HSPC046, linker for activation of T-cells family member 2, linker for activation of T cells family member 2 | ||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605719; MGI: 1926479; HomoloGene: 11297; GeneCards: LAT2; OMA:LAT2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||
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Linker for activation of T-cells family member 2 is a protein that in humans is encoded by the LAT2 gene.[5] [6] [7]
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.[7]
References
[edit ]- ^ a b c GRCh38: Ensembl release 89: ENSG00000086730 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040751 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ 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. S2CID 23727758.
- ^ a b "Entrez Gene: LAT2 linker for activation of T cells family, member 2".
Further reading
[edit ]- Rivera J (2005). "NTAL/LAB and LAT: a balancing act in mast-cell activation and function". Trends Immunol. 26 (3): 119–22. doi:10.1016/j.it.200501001. 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. doi:10.1016/0378-1119(94)90802-8. 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. PMC 1914804 . PMID 8808592.
- 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. doi:10.1016/S0378-1119(97)00411-3. 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. doi:10.1007/s003350010166. PMID 11003705. S2CID 8575994.
- 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. doi:10.1101/gr.140200. PMC 310934 . 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. doi:10.1159/000056790. PMID 11124535. S2CID 34058309.
- 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899 . PMC 139241 . 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. doi:10.1084/jem.20021405. PMC 2196071 . PMID 12486104.
- Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. Bibcode:2003Natur.424..157H. doi:10.1038/nature01782 . 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:10.1038/ng1285 . 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:10.1074/jbc.M311394200 . 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:10.1182/blood-2003年08月27日69 . 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. doi:10.4049/jimmunol.172.11.6810 . 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:10.1101/gr.2596504. PMC 528928 . 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:10.1182/blood-2005年06月22日73 . PMID 16160011. S2CID 340034.
- 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
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