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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7462

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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%, as determined by reducing SDS-PAGE.

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

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
Others LAT2 NCBI