LAT2
entrez
7462
canonical
uniprot
Q9GZY6
canonical
ensembl
ENSG00000086730
resolver
ensp
ENSP00000275635
resolver
ensp
ENSP00000344881
resolver
ensp
ENSP00000420494
resolver
ensp
ENSP00000528561
resolver
genesymbol
LAT2
resolver
genesymbol_syn
LAB
resolver
genesymbol_syn
NTAL
resolver
genesymbol_syn
WBS15
resolver
genesymbol_syn
WBSCR15
resolver
genesymbol_syn
WBSCR5
resolver
hgnc
HGNC:12749
resolver
uniprot
A6NFK6
resolver
uniprot
A8K209
resolver
uniprot
A8K4F1
resolver
uniprot
D3DXF9
resolver
uniprot
Q9BXX8
resolver
uniprot
Q9NZY9
resolver
uniprot_entry
NTAL_HUMAN
resolver
uniprot_sec
A6NFK6
resolver
uniprot_sec
A8K209
resolver
uniprot_sec
A8K4F1
resolver
uniprot_sec
D3DXF9
resolver
uniprot_sec
Q9BXX8
resolver
uniprot_sec
Q9NZY9
resolver
amino_acid_sequence
MSSGTELLWPGAALLVLLGVAASLCVRCSRPGAKRSEKIYQQRSLREDQQSFTGSRTYSLVGQAWPGPLADMAPTRKDKLLQFYPSLEDPASSRYQNFSKGSRHGSEEAYIDPIAMEYYNWGRFSKPPEDDDANSYENVLICKQKTTETGAQQEGIGGLCRGDLSLSLALKTGPTSGLCPSASPEEDEESEDYQNSASIHQWRESRKVMGQLQREASPGPVGSPDEEDGEPDYVNGEVAATEA
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:11003705, ECO:0000269|PubMed:11124535, ECO:0000269|Ref.5}.
uniprot
proteins
function
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:0000269|PubMed:12486104, ECO:0000269|PubMed:12514734, ECO:0000269|PubMed:15010370}.
uniprot
proteins
mass_dalton
26550
uniprot
proteins
mutagenesis
MUTAGEN 58; /note="Y->F: No change in phosphorylation upon BCR activation."; /evidence="ECO:0000269|PubMed:14722116"; MUTAGEN 84; /note="Y->F: No change in phosphorylation upon BCR activation."; /evidence="ECO:0000269|PubMed:14722116"; MUTAGEN 95; /note="Y->F: Slightly reduces phosphorylation upon BCR activation."; /evidence="ECO:0000269|PubMed:14722116"; MUTAGEN 110; /note="Y->F: No change in phosphorylation upon BCR activation."; /evidence="ECO:0000269|PubMed:14722116"; MUTAGEN 118; /note="Y->F: No change in phosphorylation upon BCR activation."; /evidence="ECO:0000269|PubMed:14722116"; MUTAGEN 136; /note="Y->F: Slightly reduces phosphorylation upon BCR activation."; /evidence="ECO:0000269|PubMed:14722116"; MUTAGEN 193; /note="Y->F: Reduces phosphorylation upon BCR activation."; /evidence="ECO:0000269|PubMed:14722116"; MUTAGEN 233; /note="Y->F: Strongly reduces phosphorylation upon BCR activation."; /evidence="ECO:0000269|PubMed:14722116
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on tyrosines following cross-linking of BCR in B-cells, FCGR1 in myeloid cells, or FCER1 in mast cells; which induces the recruitment of GRB2. {ECO:0000269|PubMed:12486104, ECO:0000269|PubMed:12514734, ECO:0000269|PubMed:14722116}.; PTM: May be polyubiquitinated. {ECO:0000269|PubMed:12486104}.
uniprot
proteins
pubmed
11003705
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
11124535
uniprot
proteins
pubmed
12486104
uniprot
proteins
pubmed
12514734
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14722116
uniprot
proteins
pubmed
15010370
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16160011
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
243
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12486104, ECO:0000269|PubMed:12514734}; Single-pass type III membrane protein {ECO:0000269|PubMed:12486104, ECO:0000269|PubMed:12514734}. Note=Present in lipid rafts.
uniprot
proteins
transmembrane_region
TRANSMEM 6..26; /note="Helical; Signal-anchor for type III membrane protein"; /evidence="ECO:0000255
uniprot
proteins