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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

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

Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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)

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_014146.4NP_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:28238
    LAT2; Linker for activation of T-cells family member 2
  2. NM_032463.3NP_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:28238
    LAT2; Linker for activation of T-cells family member 2
  3. NM_032464.3NP_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:28238
    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_011516558.2XP_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:28238
    LAT2; Linker for activation of T-cells family member 2
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