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Aliases for LAT2 Gene

Aliases for LAT2 Gene

  • Linker For Activation Of T Cells Family, Member 2 2 3
  • Williams-Beuren Syndrome Chromosomal Region 15 Protein 3 4
  • Williams-Beuren Syndrome Chromosomal Region 5 Protein 3 4
  • Membrane-Associated Adapter Molecule 3 4
  • Linker For Activation Of B-Cells 3 4
  • Non-T-Cell Activation Linker 3 4
  • WBSCR15 3 4
  • WBSCR5 3 4
  • NTAL 3 4
  • LAB 3 4
  • Linker For Activation Of T Cells, Transmembrane Adaptor 2 3
  • Williams-Beuren Syndrome Chromosome Region 5 2
  • Linker For Activation Of T Cells 2
  • Linker For Activation Of B Cells 2
  • Non-T Cell Activation Linker 2
  • Transmembrane Adaptor 2 2
  • HSPC046 3
  • WSCR5 3
  • WBS15 4

External Ids for LAT2 Gene

Previous HGNC Symbols for LAT2 Gene

  • WBSCR15
  • WBSCR5

Previous GeneCards Identifiers for LAT2 Gene

  • GC07P073069
  • GC07P073262
  • GC07P073613
  • GC07P069505

Summaries for LAT2 Gene

Entrez Gene Summary for LAT2 Gene

  • 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]

GeneCards Summary for LAT2 Gene

LAT2 (Linker For Activation Of T Cells Family, Member 2) is a Protein Coding gene. Diseases associated with LAT2 include williams-beuren syndrome. Among its related pathways are PI3K/AKT Signaling in Cancer and Immune System. GO annotations related to this gene include SH2 domain binding.

UniProtKB/Swiss-Prot for LAT2 Gene

  • Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2.

Gene Wiki entry for LAT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAT2 Gene

Genomics for LAT2 Gene

Regulatory Elements for LAT2 Gene

Genomic Location for LAT2 Gene

Chromosome:
7
Start:
74,199,652 bp from pter
End:
74,229,834 bp from pter
Size:
30,183 bases
Orientation:
Plus strand

Genomic View for LAT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAT2 Gene

Proteins for LAT2 Gene

  • Protein details for LAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZY6-NTAL_HUMAN
    Recommended name:
    Linker for activation of T-cells family member 2
    Protein Accession:
    Q9GZY6
    Secondary Accessions:
    • A6NFK6
    • A8K209
    • A8K4F1
    • D3DXF9
    • Q9BXX8
    • Q9NZY9

    Protein attributes for LAT2 Gene

    Size:
    243 amino acids
    Molecular mass:
    26550 Da
    Quaternary structure:
    • When phosphorylated, interacts with GRB2. May also interact with SOS1, GAB1 and CBL.
    SequenceCaution:
    • Sequence=AAF29018.1; Type=Frameshift; Positions=82, 86, 130, 221; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LAT2 Gene

    Alternative splice isoforms for LAT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAT2 Gene

Proteomics data for LAT2 Gene at MOPED

Post-translational modifications for LAT2 Gene

  • May be polyubiquitinated.
  • Phosphorylated on tyrosines following cross-linking of BCR in B-cells, FCGR1 in myeloid cells, or FCER1 in mast cells; which induces the recruitment of GRB2.
  • Ubiquitination at Lys 79
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for LAT2 (LAB)

No data available for DME Specific Peptides for LAT2 Gene

Domains & Families for LAT2 Gene

Protein Domains for LAT2 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for LAT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LAT2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for LAT2 Gene

Function for LAT2 Gene

Molecular function for LAT2 Gene

UniProtKB/Swiss-Prot Function:
Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2.

Gene Ontology (GO) - Molecular Function for LAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14722116
GO:0042169 SH2 domain binding IPI 20442417
genes like me logo Genes that share ontologies with LAT2: view
genes like me logo Genes that share phenotypes with LAT2: view

Animal Models for LAT2 Gene

MGI Knock Outs for LAT2:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LAT2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LAT2 Gene

Localization for LAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAT2 Gene

Cell membrane; Single-pass type III membrane protein. Note=Present in lipid rafts.

Gene Ontology (GO) - Cellular Components for LAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IGI 14722116
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0042629 mast cell granule IEA --
GO:0045121 membrane raft IDA 12486104
genes like me logo Genes that share ontologies with LAT2: view

No data available for Subcellular locations from COMPARTMENTS for LAT2 Gene

Pathways & Interactions for LAT2 Gene

genes like me logo Genes that share pathways with LAT2: view

Pathways by source for LAT2 Gene

Interacting Proteins for LAT2 Gene

Gene Ontology (GO) - Biological Process for LAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0019722 calcium-mediated signaling IGI 14722116
GO:0035556 intracellular signal transduction IGI 14722116
GO:0038095 Fc-epsilon receptor signaling pathway TAS --
GO:0042113 B cell activation TAS 14722116
genes like me logo Genes that share ontologies with LAT2: view

No data available for SIGNOR curated interactions for LAT2 Gene

Drugs & Compounds for LAT2 Gene

No Compound Related Data Available

Transcripts for LAT2 Gene

Unigene Clusters for LAT2 Gene

Linker for activation of T cells family, member 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LAT2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LAT2 Gene

No ASD Table

Relevant External Links for LAT2 Gene

GeneLoc Exon Structure for
LAT2
ECgene alternative splicing isoforms for
LAT2

Expression for LAT2 Gene

mRNA expression in normal human tissues for LAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LAT2 Gene

This gene is overexpressed in Whole Blood (x24.9).

Protein differential expression in normal tissues from HIPED for LAT2 Gene

This gene is overexpressed in Pancreas (63.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LAT2 Gene



SOURCE GeneReport for Unigene cluster for LAT2 Gene Hs.741249

mRNA Expression by UniProt/SwissProt for LAT2 Gene

Q9GZY6-NTAL_HUMAN
Tissue specificity: Highly expressed in spleen, peripheral blood lymphocytes, and germinal centers of lymph nodes. Also expressed in placenta, lung, pancreas and small intestine. Present in B-cells, NK cells and monocytes. Absent from T-cells (at protein level).
genes like me logo Genes that share expression patterns with LAT2: view

Protein tissue co-expression partners for LAT2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for LAT2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LAT2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LAT2 35
  • 79.13 (n)
  • 72.82 (a)
LAT2 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LAT2 35
  • 80.03 (n)
  • 72.46 (a)
LAT2 36
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lat2 35
  • 72.62 (n)
  • 62.24 (a)
Lat2 16
Lat2 36
  • 60 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LAT2 35
  • 99.18 (n)
  • 98.35 (a)
LAT2 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lat2 35
  • 72.62 (n)
  • 62.76 (a)
chicken
(Gallus gallus)
Aves LOC100857800 35
  • 53.45 (n)
  • 41.9 (a)
-- 36
  • 30 (a)
OneToMany
LAT2 36
  • 35 (a)
OneToMany
LAT2 36
  • 30 (a)
OneToMany
LAT2 36
  • 30 (a)
OneToMany
Species with no ortholog for LAT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for LAT2 Gene

ENSEMBL:
Gene Tree for LAT2 (if available)
TreeFam:
Gene Tree for LAT2 (if available)

Paralogs for LAT2 Gene

No data available for Paralogs for LAT2 Gene

Variants for LAT2 Gene

Sequence variations from dbSNP and Humsavar for LAT2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs2074766 -- 74,221,225(-) TTGGC(C/G)AGGCT intron-variant
rs2293757 -- 74,215,825(+) GGAGC(A/G/T)GGGAG intron-variant
rs2293758 -- 74,216,076(+) TAAGC(A/G)GGGGT intron-variant
rs3779412 -- 74,210,798(+) AAAAA(C/T)AAAAA intron-variant
rs3817648 -- 74,215,718(+) CCAGA(A/G)CCTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LAT2 Gene

Variant ID Type Subtype PubMed ID
nsv464563 CNV Gain 19166990
nsv831030 CNV Gain 17160897
nsv824163 CNV Loss 20364138

Variation tolerance for LAT2 Gene

Residual Variation Intolerance Score: 52.53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.74; 33.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAT2 Gene

HapMap Linkage Disequilibrium report
LAT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAT2 Gene

Disorders for LAT2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LAT2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association
Search LAT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NTAL_HUMAN
  • Note=LAT2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of LAT2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000269 PubMed:11003705, ECO:0000269 PubMed:11124535, ECO:0000269 Ref.5}.

Relevant External Links for LAT2

Genetic Association Database (GAD)
LAT2
Human Genome Epidemiology (HuGE) Navigator
LAT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAT2
genes like me logo Genes that share disorders with LAT2: view

No data available for Genatlas for LAT2 Gene

Publications for LAT2 Gene

  1. Kit- and Fc epsilonRI-induced differential phosphorylation of the transmembrane adaptor molecule NTAL/LAB/LAT2 allows flexibility in its scaffolding function in mast cells. (PMID: 17993265) Iwaki S. … Gilfillan A.M. (Cell. Signal. 2008) 23 67
  2. Negative signaling in Fc receptor complexes. (PMID: 16682272) DaAron M. … Lesourne R. (Adv. Immunol. 2006) 23 67
  3. Grb2 and the non-T cell activation linker NTAL constitute a Ca(2+)-regulating signal circuit in B lymphocytes. (PMID: 15539154) Stork B. … Wienands J. (Immunity 2004) 23 67
  4. LAB: a new membrane-associated adaptor molecule in B cell activation. (PMID: 12514734) Janssen E. … Zhang W. (Nat. Immunol. 2003) 2 67
  5. Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. (PMID: 8812460) Osborne L.R. … Tsui L.-C. (Genomics 1996) 2 67

Products for LAT2 Gene

Sources for LAT2 Gene

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