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

    Gene ID: 7462, updated on 26-Aug-2016
    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 HPRD:09304; MIM:605719; Vega:OTTHUMG00000130151
    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]
    Orthologs
    Location:
    7q11.23
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (74209757..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 LIM domain kinase 1 Neighboring gene eukaryotic translation initiation factor 4H Neighboring gene microRNA 590 Neighboring gene replication factor C subunit 2 Neighboring gene uncharacterized LOC107986742

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      B Cell Receptor Signaling Pathway, organism-specific biosystemThe B cell receptor includes membrane ?? heavy chain molecules bound to a light chain and an Ig alpha (CD79A)/Ig beta (CD79B) heterodimer. Activation of the B cell receptor involves phosphorylation o...
    • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
      Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
    • Fc-epsilon receptor I signaling in mast cells, organism-specific biosystem (from Pathway Interaction Database)
      Fc-epsilon receptor I signaling in mast cells, organism-specific biosystem
      Fc-epsilon receptor I signaling in mast cells
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystem (from REACTOME)
      Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystemThe lipid raft resident adaptor molecules LAT1 and Non-T cell activation linker (NTAL), also known as linker for activation of B cells (LAB)/LAT2 are known participants in the regulation of mast cell...
    Products Interactant Other Gene Complex Source Pubs Description

    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 IDA
    Inferred from Direct Assay
    more info
    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 TAS
    Traceable Author Statement
    more info
     
    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

    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
      5001..25078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014146.3NP_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, OTTHUMP00000160648, ENST00000344995, OTTHUMT00000252461
      Conserved Domains (1) summary
      pfam15703
      Location:28238
      LAT2; Linker for activation of T-cells family member 2
    2. NM_032463.2NP_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, OTTHUMP00000212052, ENST00000275635, OTTHUMT00000348624
      Conserved Domains (1) summary
      pfam15703
      Location:28238
      LAT2; Linker for activation of T-cells family member 2
    3. NM_032464.2NP_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, OTTHUMP00000179118, ENST00000460943, OTTHUMT00000277062
      Conserved Domains (1) summary
      pfam15703
      Location:28238
      LAT2; Linker for activation of T-cells family member 2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      74209757..74229834
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516558.2XP_011514860.1  

      See identical proteins and their annotated locations for XP_011514860.1

      UniProtKB/Swiss-Prot
      Q9GZY6
      Conserved Domains (1) summary
      pfam15703
      Location:28238
      LAT2; Linker for activation of T-cells family member 2

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      73769175..73789226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)