Reactome | UniProt:Q9GZY6 LAT2

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UniProt:Q9GZY6 LAT2 Show undefined attributes

chain	chain:1-243
checksum	222D2CCF3C71C503
comment	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.SUBUNIT When phosphorylated, interacts with GRB2. May also interact with SOS1, GAB1 and CBL.SUBCELLULAR LOCATION Present in lipid rafts.ALTERNATIVE PRODUCTS 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).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.PTM May be polyubiquitinated.DISEASE 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.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference	[DatabaseIdentifier:11522558] ENSEMBL:ENSG00000086730 [DatabaseIdentifier:11642650] ENSEMBL:ENSP00000420494 [DatabaseIdentifier:11642649] ENSEMBL:ENSP00000344881 [DatabaseIdentifier:11642648] ENSEMBL:ENSP00000275635 [DatabaseIdentifier:11642647] ENSEMBL:ENSP00000381492 [DatabaseIdentifier:11642646] ENSEMBL:ENSP00000433807 [DatabaseIdentifier:11765348] ENSEMBL:ENST00000460943 [DatabaseIdentifier:11765346] ENSEMBL:ENST00000275635 [DatabaseIdentifier:11765345] ENSEMBL:ENST00000488266 [DatabaseIdentifier:11765349] ENSEMBL:ENST00000344995 [DatabaseIdentifier:11765347] ENSEMBL:ENST00000398475 [DatabaseIdentifier:11792849] GeneCards:LAT2 [DatabaseIdentifier:11845838] HPA:ENSG00000086730-LAT2 [DatabaseIdentifier:12130489] OpenTargets:ENSG00000086730 [DatabaseIdentifier:12166278] PDB:3MAZ [DatabaseIdentifier:12273443] PRO:Q9GZY6 [DatabaseIdentifier:12290692] Pharos - Targets:Q9GZY6 [DatabaseIdentifier:12474884] RefSeq:NP_115852.1 [DatabaseIdentifier:12474886] RefSeq:XP_011514860.1 [DatabaseIdentifier:12474888] RefSeq:NP_054865.2 [DatabaseIdentifier:12474887] RefSeq:XP_054214915.1 [DatabaseIdentifier:12474885] RefSeq:NP_115853.2
databaseName	UniProt
dbId	240614
description	recommendedName: Linker for activation of T-cells family member 2 alternativeName: Linker for activation of B-cells alternativeName: Membrane-associated adapter molecule alternativeName: Non-T-cell activation linker alternativeName: Williams-Beuren syndrome chromosomal region 15 protein alternativeName: Williams-Beuren syndrome chromosomal region 5 protein
displayName	UniProt:Q9GZY6 LAT2
geneName	LAT2 LAB NTAL WBS15 WBSCR15 WBSCR5 HSPC046
identifier	Q9GZY6
isSequenceChanged	false
keyword	3D-structure Adaptive immunity Alternative splicing Cell membrane Immunity Lipoprotein Mast cell degranulation Membrane Palmitate Phosphoprotein Proteomics identification Reference proteome Signal-anchor Transmembrane Transmembrane helix Ubl conjugation Williams-Beuren syndrome
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	LAT2
otherIdentifier	11724237_a_at 11726346_a_at 11726347_x_at 11737890_x_at 17047088 211768_PM_at 211768_at 221581_PM_s_at 221581_s_at 3008168 3008169 3008170 3008171 3008172 3008173 3008174 3008175 3008176 3008177 3008178 3008179 3008180 3008181 3008182 3008183 3008184 3008185 3008186 3008187 3008188 3008189 3008190 3008191 3008192 3008193 3008195 3008196 53137_at 7462 8133442 87684_at A_23_P259621 A_24_P351852 A_24_P940327 A_33_P3294961 GE56019 GO:0002250 GO:0002376 GO:0002764 GO:0005515 GO:0005886 GO:0016020 GO:0016192 GO:0019722 GO:0035556 GO:0042113 GO:0042169 GO:0043303 GO:0045121 GO:0050853 GO:0070062 HMNXSV003001683 HMNXSV003051866 ILMN_1803560 ILMN_2249720 ILMN_2326953 PH_hs_0003673 TC07000453.hg g13543865_3p_at g9651998_3p_s_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-2685597] p-10Y-LAT2 [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2685635] LAT2 [plasma membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000086730] ENSEMBL:ENSG00000086730 LAT2 [ReferenceDNASequence:12716652] UCSC:Q9GZY6 LAT2 [ReferenceDNASequence:11386423] BioGPS Gene:7462 LAT2 [ReferenceDNASequence:11396536] COSMIC - genes:LAT2 LAT2 [ReferenceDNASequence:11421145] CTD Gene:7462 LAT2 [ReferenceDNASequence:11433006] dbSNP Gene:7462 LAT2 [ReferenceDNASequence:11824534] HGNC:12749 LAT2 [ReferenceDNASequence:11922922] KEGG:hsa:7462 LAT2 [ReferenceDNASequence:12016212] Monarch:7462 LAT2 [ReferenceDNASequence:12100305] NCBI Gene:7462 LAT2 [ReferenceDNASequence:12115043] OMIM:605719 LAT2
referenceTranscript	[ReferenceRNASequence:12656350] RefSeq:XM_011516558.2 LAT2 [ReferenceRNASequence:12656352] RefSeq:NM_032463.3 LAT2 [ReferenceRNASequence:12656348] RefSeq:NM_032464.3 LAT2 [ReferenceRNASequence:12656351] RefSeq:NM_014146.3 LAT2 [ReferenceRNASequence:12656349] RefSeq:XM_054358940.1 LAT2
schemaClass	ReferenceGeneProduct
secondaryIdentifier	NTAL_HUMAN A6NFK6 A8K209 A8K4F1 D3DXF9 Q9BXX8 Q9NZY9
sequenceLength	243
species	[Species:48887] Homo sapiens
stId	uniprot:Q9GZY6
url	http://purl.uniprot.org/uniprot/Q9GZY6

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