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LAT2 linker for activation of T cells family member 2 [ Homo sapiens (human) ]

Gene ID: 7462, updated on 13-Mar-2020

Summary

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Official Symbol
LAT2provided by HGNC
Official Full Name
linker for activation of T cells family member 2provided by HGNC
Primary source
HGNC:HGNC:12749
See related
Ensembl:ENSG00000086730 MIM:605719
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LAB; NTAL; WSCR5; WBSCR5; HSPC046; WBSCR15
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]
Annotation information
Note: LAT2 (Gene ID: 7462) and SLC7A8 (Gene ID: 23428) share the LAT2 symbol/alias in common. LAT2 is sometimes used as an alternative name for solute carrier family 7 member 8 (SLC7A8), which can be confused with the official symbol for linker for activation of T cells family member 2 (LAT2). [05 Jul 2018]
Expression
Broad expression in lymph node (RPKM 22.9), appendix (RPKM 20.3) and 16 other tissues See more
Orthologs
mouse all

Genomic context

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See LAT2 in Genome Data Viewer
Location:
7q11.23
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (74210006..74229834)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73624087..73644164)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11846 Neighboring gene eukaryotic translation initiation factor 4H Neighboring gene microRNA 590 Neighboring gene replication factor C subunit 2 Neighboring gene uncharacterized LOC107986742

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Linker for activation of T-cell family member2 (LAT2) a lipid raft adaptor protein for AKT signaling, is an early mediator of alkylphospholipid anti-leukemic activity. Thomé CH, et al. Mol Cell Proteomics, 2012 Dec. PMID 23001822, Free PMC Article
  2. The adaptor protein NTAL enhances proximal signaling and potentiates corticosteroid-induced apoptosis in T-ALL. Svojgr K, et al. Exp Hematol, 2012 May. PMID 22269118
  3. LAB/NTAL/Lat2: a force to be reckoned with in all leukocytes? Orr SJ, et al. J Leukoc Biol, 2011 Jan. PMID 20643813, Free PMC Article
  4. Adaptor molecules expression in normal lymphopoiesis and in childhood leukemia. Svojgr K, et al. Immunol Lett, 2009 Feb 21. PMID 19183565
  5. NTAL phosphorylation is a pivotal link between the signaling cascades leading to human mast cell degranulation following Kit activation and Fc epsilon RI aggregation. Tkaczyk C, et al. Blood, 2004 Jul 1. PMID 15010370

See all (34) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Its overexpression represents a negative prognostic marker that has been linked to tumor grade, proliferating potential and angiogenesis and mediates intracellular transport of anticancer agents.
    Title: Expression of large neutral amino acid transporters LAT1 and LAT2 in medulloblastoma.
  2. The AML1/ETO target gene LAT2 interferes with differentiation of normal hematopoietic precursor cells.
    Title: The AML1/ETO target gene LAT2 interferes with differentiation of normal hematopoietic precursor cells.
  3. LAT2 is an early mediator of the anti-leukemic activity of alkylphospholipids and arsenic trioxide. Thus, LAT2 may be used as a target for the design of drugs for cancer therapy.
    Title: Linker for activation of T-cell family member2 (LAT2) a lipid raft adaptor protein for AKT signaling, is an early mediator of alkylphospholipid anti-leukemic activity.
  4. NTAL acts as a tumor suppressor that enhances the proximal signaling of leukemic blasts. The key downstream molecule responsible for the biological effect of TCR signaling is ERK.
    Title: The adaptor protein NTAL enhances proximal signaling and potentiates corticosteroid-induced apoptosis in T-ALL.
  5. LAB has the ability to modulate signaling in virtually every type of leukocyte.
    Title: LAB/NTAL/Lat2: a force to be reckoned with in all leukocytes?
  6. LAT2 protein (NTAL) participates in the activation of the c-Met-Grb2-ERK-cPLA2 signalling cascade at early stages of H. pylori infection.
    Title: Non-T cell activation linker regulates ERK activation in Helicobacter pylori-infected epithelial cells.
  7. expression separates T lineage leukemias into two subgroups with good and poor prognostic outcome to prednisone therapy in acute lymphoblastic leukemia in children
    Title: Adaptor molecules expression in normal lymphopoiesis and in childhood leukemia.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
  9. These data show that natural killer cell immunoreceptor tyrosine-based activation motifs preferentially use a signaling cassette regulated by interplay between LAT and LAB.
    Title: Analysis of the linker for activation of T cells and the linker for activation of B cells in natural killer cells reveals a novel signaling cassette, dual usage in ITAM signaling, and influence on development of the Ly49 repertoire.
  10. observations reported herein support the conclusion that NTAL may be differentially utilized by specific receptors for relaying alternative signals and this suggests a flexibility in the function of TRAPs not previously appreciated.
    Title: Kit- and Fc epsilonRI-induced differential phosphorylation of the transmembrane adaptor molecule NTAL/LAB/LAT2 allows flexibility in its scaffolding function in mast cells.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr upregulates the gene expression of LAT2 in human monocyte-derived dendritic cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH2 domain binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
SH2 domain binding IPI
Inferred from Physical Interaction
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
B cell activation IDA
Inferred from Direct Assay
more info
 PubMed 
B cell activation TAS
Traceable Author Statement
more info
 PubMed 
B cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
  
adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
calcium-mediated signaling IGI
Inferred from Genetic Interaction
more info
 PubMed 
intracellular signal transduction IGI
Inferred from Genetic Interaction
more info
 PubMed 
mast cell degranulation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
mast cell granule IEA
Inferred from Electronic Annotation
more info
  
membrane raft IDA
Inferred from Direct Assay
more info
 PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
  
plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
linker for activation of T-cells family member 2
Names
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
membrane-associated adapter molecule
non-T-cell activation linker

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023256.1 RefSeqGene

    Range
    5250..25078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014146.4 → NP_054865.2  linker for activation of T-cells family member 2 precursor

    See identical proteins and their annotated locations for NP_054865.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AF252613, AI492348, BM468969
    Consensus CDS
    CCDS5566.2
    UniProtKB/Swiss-Prot
    Q9GZY6
    Related
    ENSP00000344881.5, ENST00000344995.9
    Conserved Domains (1) summary
    pfam15703
    Location:28 → 238
    LAT2; Linker for activation of T-cells family member 2

  2. NM_032463.3 → NP_115852.1  linker for activation of T-cells family member 2 precursor

    See identical proteins and their annotated locations for NP_115852.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AF252614, AI492348, BM468969
    Consensus CDS
    CCDS5566.2
    UniProtKB/Swiss-Prot
    Q9GZY6
    Related
    ENSP00000275635.7, ENST00000275635.11
    Conserved Domains (1) summary
    pfam15703
    Location:28 → 238
    LAT2; Linker for activation of T-cells family member 2

  3. NM_032464.3 → NP_115853.2  linker for activation of T-cells family member 2 precursor

    See identical proteins and their annotated locations for NP_115853.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AI492348, BC001609, BM468969
    Consensus CDS
    CCDS5566.2
    UniProtKB/Swiss-Prot
    Q9GZY6
    Related
    ENSP00000420494.1, ENST00000460943.6
    Conserved Domains (1) summary
    pfam15703
    Location:28 → 238
    LAT2; Linker for activation of T-cells family member 2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    74210006..74229834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516558.2 → XP_011514860.1  linker for activation of T-cells family member 2 isoform X1

    See identical proteins and their annotated locations for XP_011514860.1

    UniProtKB/Swiss-Prot
    Q9GZY6
    Conserved Domains (1) summary
    pfam15703
    Location:28 → 238
    LAT2; Linker for activation of T-cells family member 2
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9GZY6.1 GenPept UniProtKB/Swiss-Prot:Q9GZY6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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