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

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
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

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