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] See more...

Aliases for LAT2 Gene

Aliases for LAT2 Gene

  • Linker For Activation Of T Cells Family Member 2 2 3 5
  • Linker For Activation Of T-Cells Family Member 2 2 3 4
  • NTAL 2 3 4
  • LAB 2 3 4
  • Linker For Activation Of T Cells, Transmembrane Adaptor 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
  • HSPC046 2 3
  • WBSCR15 3 4
  • WBSCR5 3 4
  • WSCR5 2 3
  • Linker For Activation Of T Cells Family, Member 2 2
  • Williams-Beuren Syndrome Chromosome Region 5 2
  • Linker For Activation Of B Cells 2
  • Non-T Cell Activation Linker 2
  • WBS15 4
  • LAT2 5

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 Hernia, Hiatus and Williams-Beuren Syndrome. Among its related pathways are B Cell Receptor Signaling Pathway (sino) and NF-kappaB Signaling. Gene Ontology (GO) annotations related to this gene include SH2 domain binding.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LAT2 Gene

Genomics for LAT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LAT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LAT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LAT2

Top Transcription factor binding sites by QIAGEN in the LAT2 gene promoter:
  • AhR
  • c-Myc
  • Max1
  • STAT5A

Genomic Locations for LAT2 Gene

Latest Assembly
chr7:74,199,652-74,229,834
(GRCh38/hg38)
Size:
30,183 bases
Orientation:
Plus strand

Previous Assembly
chr7:73,624,336-73,644,164
(GRCh37/hg19 by Entrez Gene)
Size:
19,829 bases
Orientation:
Plus strand

chr7:73,613,982-73,644,161
(GRCh37/hg19 by Ensembl)
Size:
30,180 bases
Orientation:
Plus strand

Genomic View for LAT2 Gene

Genes around LAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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; 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

Post-translational modifications for LAT2 Gene

  • 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.
  • May be polyubiquitinated.
  • Ubiquitination at Lys77 and Lys79
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for LAT2

No data available for DME Specific Peptides for LAT2 Gene

Domains & Families for LAT2 Gene

Gene Families for LAT2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for LAT2 Gene

InterPro:

Suggested Antigen Peptide Sequences for LAT2 Gene

GenScript: Design optimal peptide antigens:
  • Williams-Beuren syndrome chromosomal region 5 protein (NTAL_HUMAN)
genes like me logo Genes that share domains with LAT2: view

No data available for Graphical View of Domain Structure 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.

Phenotypes From GWAS Catalog for LAT2 Gene

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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAT2

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LAT2 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0045121 membrane raft IDA 12486104
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with LAT2: view

Pathways & Interactions for LAT2 Gene

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

Pathways by source 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:0002376 immune system process IEA --
GO:0002764 immune response-regulating signaling pathway IEA --
GO:0019722 calcium-mediated signaling IGI 14722116
GO:0035556 intracellular signal transduction IGI 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

mRNA/cDNA for LAT2 Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LAT2

Clone products for research

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

No ASD Table

Relevant External Links for LAT2 Gene

GeneLoc Exon Structure for
LAT2

Expression for LAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for LAT2 Gene



Protein tissue co-expression partners for LAT2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LAT2

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).

Evidence on tissue expression from TISSUES for LAT2 Gene

  • Nervous system(4.8)
  • Blood(4.6)
  • Spleen(4.5)
  • Bone marrow(2.4)
  • Lymph node(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with LAT2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LAT2 Gene

Orthologs for LAT2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LAT2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LAT2 29 30
  • 99.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LAT2 29 30
  • 80.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LAT2 29 30
  • 79.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lat2 29
  • 72.62 (n)
Mouse
(Mus musculus)
Mammalia Lat2 29 16 30
  • 72.62 (n)
OneToOne
Chicken
(Gallus gallus)
Aves LOC100857708 29
  • 53.45 (n)
LAT2 30 30 30
  • 35 (a)
OneToMany
-- 30
  • 30 (a)
OneToMany
Species where no ortholog for LAT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for LAT2: view image
Alliance of Genome Resources:
Additional Orthologs for LAT2

Paralogs for LAT2 Gene

No data available for Paralogs for LAT2 Gene

Variants for LAT2 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LAT2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv3613698 CNV loss 21293372
esv3613704 CNV loss 21293372
esv3613705 CNV loss 21293372
nsv1076924 CNV deletion 25765185
nsv464563 CNV gain 19166990
nsv607480 CNV gain 21841781
nsv607481 CNV loss 21841781
nsv824163 CNV loss 20364138
nsv831030 CNV gain 17160897

Variation tolerance for LAT2 Gene

Residual Variation Intolerance Score: 52.5% 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)

Additional Variant Information for LAT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAT2
Leiden Open Variation Database (LOVD)
LAT2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LAT2 Gene

Disorders for LAT2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for LAT2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hernia, hiatus
  • hiatal hernia
williams-beuren syndrome
  • wbs
mastocytosis, cutaneous
  • mastc
peptic esophagitis
  • peptic reflux disease
periodic fever, familial, autosomal dominant
  • fpf
- elite association - COSMIC cancer census association via MalaCards
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}.

Additional Disease Information for LAT2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LAT2: view

No data available for Genatlas for LAT2 Gene

Publications for LAT2 Gene

  1. LAB: a new membrane-associated adaptor molecule in B cell activation. (PMID: 12514734) Janssen E … Zhang W (Nature immunology 2003) 2 3 4
  2. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 40
  3. 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 AM (Cellular signalling 2008) 3 22
  4. Transmembrane adaptor molecules: a new category of lymphoid-cell markers. (PMID: 16160011) Tedoldi S … Horejsí V (Blood 2006) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for LAT2 Gene

Sources for LAT2 Gene