LAT2 - linker for activation of T cells family member 2 Gene

Homo sapiens

Also known as LAB; NTAL; WSCR5; WBSCR5; HSPC046; WBSCR15

Gene ID: 7462 | Gene type: protein coding

About LAT2

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:74,210,006-74,229,834 (from NCBI)

This gene has 11 transcripts (splice variants) and 79 orthologues. Broad expression in lymph node (RPKM 22.9), appendix (RPKM 20.3) and 16 other tissues.

Summary

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 protein. [provided by RefSeq, Jul 2008]

LAT2 Products(3)

mRNA	Protein	Name
NM_014146.4	NP_054865.2	linker for activation of T-cells family member 2 precursor
NM_032463.3	NP_115852.1	linker for activation of T-cells family member 2 precursor
NM_032464.3	NP_115853.2	linker for activation of T-cells family member 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables SH2 domain binding	IMP IMP: Inferred from mutant phenotype	14722116	GOA
enables SH2 domain binding	IPI IPI: Inferred from physical interaction	20442417	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14722116	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in B cell activation	IDA IDA: Inferred from direct assay	12514734	GOA
involved in B cell receptor signaling pathway	IDA IDA: Inferred from direct assay	12514734	GOA
involved in calcium-mediated signaling	IGI IGI: Inferred from genetic interaction	14722116	GOA
involved in intracellular signal transduction	IGI IGI: Inferred from genetic interaction	14722116	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in membrane raft	IDA IDA: Inferred from direct assay	12486104	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

linker for activation of T-cells family member 2

Williams-Beuren syndrome chromosomal region 15 protein

Recombinant LAT2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71173	NTAL Protein, Human (HEK293, His)	Q9GZY6 (R27-A243)	≥95%

Related Diseases

Diseases

Alias

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Hernia, Hiatus

Hiatal Hernia	Hiatus Hernia
Diaphragmatic - Hiatus -Hernia	Hernia, Hiatal

Peptic Esophagitis

Reflux Esophagitis	Peptic Reflux Disease
Reflux Oesophagitis	Esophagitis, Peptic
Gastro-Esophageal Reflux Disease With Esophagitis

Bile Reflux

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-138489	TRULI	Modulator	99.98%	Unkown
HY-147082	GA-017	Activator	98.95%	Unkown
HY-147165	VT02956	Inhibitor	99.58%	Unkown
HY-130504	Propargyl-PEG1-acid		≥97.0%	Unkown
HY-RS07537	LAT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS07539	LATS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-147165A	VT02956 hydrochloride	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	LAT2	VGNC	VGNC:74040
Mus musculus	LAT2	MGD	MGI:1926479
Felis catus	LAT2	VGNC	VGNC:63200
Rattus norvegicus	LAT2	RGD	RGD:631397
Canis familiaris	LAT2	VGNC	VGNC:42597
Bos taurus	LAT2	VGNC	VGNC:30799

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