LAT2

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LAT2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesLAT2, LAB, NTAL, WBSCR15, WBSCR5, WSCR5, HSPC046, linker for activation of T-cells family member 2, linker for activation of T cells family member 2
External IDsOMIM: 605719 MGI: 1926479 HomoloGene: 11297 GeneCards: LAT2
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for LAT2
Genomic location for LAT2
Band7q11.23Start74,199,652 bp[1]
End74,229,834 bp[1]
RNA expression pattern
PBB GE LAT2 221581 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014146
NM_032463
NM_032464

NM_020044
NM_022964

RefSeq (protein)

NP_054865
NP_115852
NP_115853

NP_064428
NP_075253

Location (UCSC)Chr 7: 74.2 – 74.23 MbChr 5: 134.6 – 134.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Linker for activation of T-cells family member 2 is a protein that in humans is encoded by the LAT2 gene.[5][6][7]

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.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000086730 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040751 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HH, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC (Jan 1997). "Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients". Genomics. 36 (2): 328–36. doi:10.1006/geno.1996.0469. PMID 8812460.
  6. ^ Janssen E, Zhu M, Zhang W, Koonpaew S, Zhang W (Jan 2003). "LAB: a new membrane-associated adaptor molecule in B cell activation". Nat Immunol. 4 (2): 117–23. doi:10.1038/ni882. PMID 12514734.
  7. ^ a b "Entrez Gene: LAT2 linker for activation of T cells family, member 2".

Further reading[edit]