InnateDB Protein
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IDBP-480778.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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LAT2
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Protein Name
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linker for activation of T cells family, member 2
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Synonyms
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LAB; NTAL; WBSCR15; WBSCR5; WSCR5;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000420494
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InnateDB Gene
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IDBG-21069 (LAT2)
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Protein Structure
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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}.
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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.
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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}.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
8
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9GZY6
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PhosphoSite |
PhosphoSite-Q9GZY6
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TrEMBL |
F8W947
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UniProt Splice Variant |
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Entrez Gene |
7462
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UniGene |
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RefSeq |
NP_115853
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HUGO |
HGNC:12749
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OMIM |
605719
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CCDS |
CCDS5566
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HPRD |
09304
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IMGT |
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EMBL |
AC005081
AF045555
AF161531
AF252611
AF252612
AF252613
AF252614
AF257135
AK002099
AK092904
AK290074
AK290916
AY190023
BC001609
BC009204
CH471200
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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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