LAT2

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

LAT2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3MAZ
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
Gene location (Human) Chr. Chromosome 7 (human) Band 7q11.23 Start 74,199,652 bp End 74,229,834 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 G2 Start 134,628,876 bp End 134,643,879 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte blood bone marrow spleen appendix bone marrow cells lymph node trabecular bone superficial temporal artery Top expressed in spleen granulocyte ankle joint mesenteric lymph nodes blood spermatocyte morula lip stroma of bone marrow embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding SH2 domain binding Cellular component integral component of membrane membrane raft mast cell granule plasma membrane extracellular exosome membrane intracellular anatomical structure Biological process B cell receptor signaling pathway Fc-epsilon receptor signaling pathway B cell activation immune response-regulating signaling pathway intracellular signal transduction mast cell degranulation adaptive immune response calcium-mediated signaling immune system process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7462 56743 Ensembl ENSG00000086730 ENSMUSG00000040751 UniProt Q9GZY6 Q9JHL0 RefSeq (mRNA) NM_014146 NM_032463 NM_032464 NM_020044 NM_022964 RefSeq (protein) NP_054865 NP_115852 NP_115853 NP_064428 NP_075253 Location (UCSC) Chr 7: 74.2 – 74.23 Mb Chr 5: 134.63 – 134.64 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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.

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:10.1016/j.it.2005.01.001. 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-2003-08-2769. 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-2005-06-2273. 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.