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

Gene ID: 7462, updated on 28-Oct-2024

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; AllianceGenome:HGNC:12749
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
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Genomic context

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See LAT2 in Genome Data Viewer
Location:
7q11.23
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (74210006..74229834)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75412292..75432128)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (73624336..73644164)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73497513-73498191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18271 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73499459-73500058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73500059-73500656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73504464-73504964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73504965-73505465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73507121-73507662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26138 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73508745-73509285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26139 Neighboring gene LIM domain kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73519804-73520304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73529551-73530186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73530187-73530821 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73547393-73548180 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73553155-73553684 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:73576750-73576945 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73588725-73589238 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73589239-73589751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73593778-73594278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73594279-73594779 Neighboring gene eukaryotic translation initiation factor 4H Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73610469-73610970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26140 Neighboring gene microRNA 590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73630833-73631789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73634419-73635267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26146 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73667761-73668363 Neighboring gene replication factor C subunit 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73668364-73668966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:73668967-73669569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73676953-73677454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73677455-73677954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26157 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73693216-73693846 Neighboring gene uncharacterized LOC107986742 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73696998-73697628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26158

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 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. Expression of Non-T Cell Activation Linker (NTAL) in Jurkat Cells Negatively Regulates TCR Signaling: Potential Role in Rheumatoid Arthritis. Narbona-Sánchez I, et al. Int J Mol Sci, 2023 Feb 26. PMID 36902005, Free PMC Article
  2. 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
  3. Adaptor molecules expression in normal lymphopoiesis and in childhood leukemia. Svojgr K, et al. Immunol Lett, 2009 Feb 21. PMID 19183565
  4. NTAL is associated with treatment outcome, cell proliferation and differentiation in acute promyelocytic leukemia. Thomé CH, et al. Sci Rep, 2020 Jun 25. PMID 32587277, Free PMC Article
  5. 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

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Expression of Non-T Cell Activation Linker (NTAL) in Jurkat Cells Negatively Regulates TCR Signaling: Potential Role in Rheumatoid Arthritis.
    Title: Expression of Non-T Cell Activation Linker (NTAL) in Jurkat Cells Negatively Regulates TCR Signaling: Potential Role in Rheumatoid Arthritis.
  2. NTAL is associated with treatment outcome, cell proliferation and differentiation in acute promyelocytic leukemia.
    Title: NTAL is associated with treatment outcome, cell proliferation and differentiation in acute promyelocytic leukemia.
  3. The lipid raft protein NTAL participates in AKT signaling in mantle cell lymphoma.
    Title: The lipid raft protein NTAL participates in AKT signaling in mantle cell lymphoma.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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?
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (19)

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
enables SH2 domain binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables SH2 domain binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in B cell activation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in B cell activation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in B cell activation TAS
Traceable Author Statement
more info
 PubMed 
involved_in B cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in B cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in calcium-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in calcium-mediated signaling IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in intracellular signal transduction IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in mast cell degranulation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in membrane raft IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in 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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NEW Try the new Transcript table

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

    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
    A6NFK6, A8K209, A8K4F1, D3DXF9, Q9BXX8, Q9GZY6, Q9NZY9
    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

    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
    A6NFK6, A8K209, A8K4F1, D3DXF9, Q9BXX8, Q9GZY6, Q9NZY9
    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

    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
    A6NFK6, A8K209, A8K4F1, D3DXF9, Q9BXX8, Q9GZY6, Q9NZY9
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047420801.1 → XP_047276757.1  linker for activation of T-cells family member 2 isoform X1

  2. XM_011516558.2 → XP_011514860.1  linker for activation of T-cells family member 2 isoform X2

    See identical proteins and their annotated locations for XP_011514860.1

    UniProtKB/Swiss-Prot
    A6NFK6, A8K209, A8K4F1, D3DXF9, Q9BXX8, Q9GZY6, Q9NZY9
    Conserved Domains (1) summary
    pfam15703
    Location:28 → 238
    LAT2; Linker for activation of T-cells family member 2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    75412292..75432128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358939.1 → XP_054214914.1  linker for activation of T-cells family member 2 isoform X1

  2. XM_054358940.1 → XP_054214915.1  linker for activation of T-cells family member 2 isoform X2

    UniProtKB/Swiss-Prot
    A6NFK6, A8K209, A8K4F1, D3DXF9, Q9BXX8, Q9GZY6, Q9NZY9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9GZY6.1 GenPept UniProtKB/Swiss-Prot:Q9GZY6

Gene LinkOut

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