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

    Gene ID: 7462, updated on 2-Nov-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
    mouse all
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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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    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 Variation Viewer (GRCh37.p13)

    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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    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

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

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