| InnateDB Protein | IDBP-21071.6 | 
                            
                                | Last Modified | 2014-10-13  [Report errors or provide feedback] | 
  
                            
                                | Gene Symbol | LAT2 | 
                            
                                | Protein Name | linker for activation of T cells family, member 2 | 
                            
                                | Synonyms | LAB; NTAL; WBSCR15; WBSCR5; WSCR5; | 
                            
                                | Species | Homo sapiens | 
                            
                                | Ensembl Protein | ENSP00000275635 | 
                            
                                | InnateDB Gene | IDBG-21069 (LAT2) | 
                            
                                | Protein Structure |   | 
                            
                                
                            
   
                            
                                | Function | Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2. {ECO:0000269PubMed:12486104, ECO:0000269PubMed:12514734, ECO:0000269PubMed:15010370}. | 
                            
                                | Subcellular Localization | Cell membrane {ECO:0000269PubMed:12486104, ECO:0000269PubMed:12514734}; Single-pass type III membrane protein {ECO:0000269PubMed:12486104, ECO:0000269PubMed:12514734}. Note=Present in lipid rafts. | 
                            
                                | Disease Associations | Note=LAT2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of LAT2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000269PubMed:11003705, ECO:0000269PubMed:11124535, ECO:0000269Ref.5}. | 
                            
                                | Tissue Specificity | Highly expressed in spleen, peripheral blood lymphocytes, and germinal centers of lymph nodes. Also expressed in placenta, lung, pancreas and small intestine. Present in B- cells, NK cells and monocytes. Absent from T-cells (at protein level). {ECO:0000269PubMed:11124535, ECO:0000269PubMed:12486104, ECO:0000269PubMed:12514734, ECO:0000269PubMed:16160011}. | 
                            
                                | Comments |  | 
                            
                                
                            
                            
                                | Number of Interactions | This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database. 
                                        
                                            | 
                                                    | Experimentally validated |  
                                                        | Total | 8
                                                            
                                                            [view] |  
                                                        | Protein-Protein | 8
                                                            
                                                            [view] |  
                                                        | Protein-DNA | 0 |  
                                                        | Protein-RNA | 0 |  
                                                        | DNA-DNA | 0 |  
                                                        | RNA-RNA | 0 |  
                                                        | DNA-RNA | 0 |  |  |  | 
                            
                             
                            
                            
                                | Molecular Function
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                                | Biological Process |  | 
                            
                                | Cellular Component |  | 
                            
                            
                                
                            
                            | PDB ID |  | 
                            | InterPro |  | 
                            | PFAM |  | 
                            | PRINTS |  | 
                            | PIRSF |  | 
                            | SMART |  | 
                            | TIGRFAMs |  | 
                            
                                
                            
   
                            
                                | Modification |  | 
                            
                                
                            
    
                            | SwissProt | Q9GZY6 | 
                            | PhosphoSite | PhosphoSite-Q9GZY6 | 
                            | TrEMBL | F8W947 | 
                            | UniProt Splice Variant |  | 
                            | Entrez Gene | 7462 | 
                            | UniGene |  | 
                            | RefSeq | NP_115852 | 
            
                            
                            | HUGO | HGNC:12749 | 
                            
                            | OMIM | 605719 | 
                            | CCDS | CCDS5566 | 
           
                            | HPRD | 09304 | 
            
                            | IMGT |  | 
            
                            | EMBL | AC005081
                                     
                                     
                                    
                                        AF045555
                                     
                                     
                                    
                                        AF161531
                                     
                                     
                                    
                                        AF252611
                                     
                                     
                                    
                                        AF252612
                                     
                                     
                                    
                                        AF252613
                                     
                                     
                                    
                                        AF252614
                                     
                                     
                                    
                                        AF257135
                                     
                                     
                                    
                                        AK002099
                                     
                                     
                                    
                                        AK092904
                                     
                                     
                                    
                                        AK290074
                                     
                                     
                                    
                                        AK290916
                                     
                                     
                                    
                                        AY190023
                                     
                                     
                                    
                                        BC001609
                                     
                                     
                                    
                                        BC009204
                                     
                                     
                                    
                                        CH471200 | 
                            | GenPept | AAF29018
                                     
                                     
                                    
                                        AAF74978
                                     
                                     
                                    
                                        AAF91352
                                     
                                     
                                    
                                        AAH01609
                                     
                                     
                                    
                                        AAH09204
                                     
                                     
                                    
                                        AAK37429
                                     
                                     
                                    
                                        AAK37430
                                     
                                     
                                    
                                        AAK37431
                                     
                                     
                                    
                                        AAK37633
                                     
                                     
                                    
                                        AAO63155
                                     
                                     
                                    
                                        AAS07404
                                     
                                     
                                    
                                        AAS07405
                                     
                                     
                                    
                                        BAA92084
                                     
                                     
                                    
                                        BAF82763
                                     
                                     
                                    
                                        BAF83605
                                     
                                     
                                    
                                        BAG52627
                                     
                                     
                                    
                                        EAW69610
                                     
                                     
                                    
                                        EAW69611
                                     
                                     
                                    
                                        EAW69612
                                     
                                     
                                    
                                        EAW69613 | 
                            
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