Homo sapiens Protein: LAT2
Summary
InnateDB Protein IDBP-480778.3
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 ENSP00000420494
InnateDB Gene IDBG-21069 (LAT2)
Protein Structure
UniProt Annotation
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
Interactions
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
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0042169 SH2 domain binding
Biological Process
GO:0019722 calcium-mediated signaling
GO:0035556 intracellular signal transduction
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0042113 B cell activation
GO:0043303 mast cell degranulation
GO:0045087 innate immune response
GO:0050853 B cell receptor signaling pathway
Cellular Component
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0042629 mast cell granule
GO:0045121 membrane raft
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9GZY6
PhosphoSite PhosphoSite-Q9GZY6
TrEMBL F8W947
UniProt Splice Variant
Entrez Gene 7462
UniGene
RefSeq NP_115853
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