• Gene id: 7462

Gene Summary

• Gene Symbol: LAT2   Gene   UCSC   Ensembl
• Aliases: HSPC046, LAB, NTAL, WBSCR15, WBSCR5, WSCR5
• Gene name: linker for activation of T cells family member 2
• Alternate names: linker for activation of T-cells family member 2, Williams-Beuren syndrome chromosomal region 15 protein, Williams-Beuren syndrome chromosomal region 5 protein, linker for activation of B-cells, linker for activation of T cells, transmembrane adaptor 2, membra,
• Gene location: 7q11.23 (74210005: 74229833)     Exons: 14     NC_000007.14
• Gene summary(Entrez): This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same p
• OMIM: 605719

Protein Summary

• Protein general information: Q9GZY6  
  • Name: Linker for activation of T cells family member 2 (Linker for activation of B cells) (Membrane associated adapter molecule) (Non T cell activation linker) (Williams Beuren syndrome chromosomal region 15 protein) (Williams Beuren syndrome chromosomal region
  • Length: 243  
  • Mass: 26550
  • 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
• Sequence:

  MSSGTELLWPGAALLVLLGVAASLCVRCSRPGAKRSEKIYQQRSLREDQQSFTGSRTYSLVGQAWPGPLADMAPT
  RKDKLLQFYPSLEDPASSRYQNFSKGSRHGSEEAYIDPIAMEYYNWGRFSKPPEDDDANSYENVLICKQKTTETG
  AQQEGIGGLCRGDLSLSLALKTGPTSGLCPSASPEEDEESEDYQNSASIHQWRESRKVMGQLQREASPGPVGSPD
  EEDGEPDYVNGEVAATEA

• Structural information:
  • Interpro: IPR031428  
  • PDB: 3MAZ
  • PDBsum: 3MAZ
  • STRING: ENSP00000420494
• Other Databases: GeneCards:  LAT2  Malacards:  LAT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0045121	membrane raft	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0050853	B cell receptor signaling pathway	IDA	biological process
GO:0035556	intracellular signal transduction	IGI	biological process
GO:0042169	SH2 domain binding	IMP	molecular function
GO:0042113	B cell activation	IDA	biological process
GO:0019722	calcium-mediated signaling	IGI	biological process
GO:0042113	B cell activation	TAS	biological process
GO:0002764	immune response-regulating signaling pathway	IEA	biological process
GO:0042113	B cell activation	IEA	biological process
GO:0043303	mast cell degranulation	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0038095	Fc-epsilon receptor signaling pathway	TAS	biological process
GO:0042169	SH2 domain binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0042629	mast cell granule	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	PMID:11003705
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881